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Abnormality of metabolism/homeostasis

MedGen UID:
867398
Concept ID:
C4021768
Finding
Synonyms: Laboratory abnormality; Metabolism abnormality
 
HPO: HP:0001939

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of metabolism/homeostasis

Conditions with this feature

Autoimmune hemolytic anemia
MedGen UID:
1918
Concept ID:
C0002880
Disease or Syndrome
An autoimmune form of hemolytic anemia.
Polycystic ovaries
MedGen UID:
10836
Concept ID:
C0032460
Disease or Syndrome
Polycystic ovary syndrome is a condition that affects women in their child-bearing years and alters the levels of multiple hormones, resulting in problems affecting many body systems.\n\nMost women with polycystic ovary syndrome produce excess male sex hormones (androgens), a condition called hyperandrogenism. Having too much of these hormones typically leads to excessive body hair growth (hirsutism), acne, and male pattern baldness.\n\nHyperandrogenism and abnormal levels of other sex hormones prevent normal release of egg cells from the ovaries (ovulation) and regular menstrual periods, leading to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). For those who achieve pregnancy, there is an increased risk of complications and pregnancy loss. Due to irregular and infrequent menstruation and hormone abnormalities, affected women have an increased risk of cancer of the uterine lining (endometrial cancer).\n\nIn polycystic ovary syndrome, one or both ovaries can contain multiple small, immature ovarian follicles that can appear as cysts on medical imaging. Normally, ovarian follicles contain egg cells, which are released during ovulation. In polycystic ovary syndrome, abnormal hormone levels prevent follicles from growing and maturing to release egg cells. Instead, these immature follicles accumulate in the ovaries. Affected women can have 12 or more of these follicles. The number of these follicles usually decreases with age.\n\nAbout half of all women with polycystic ovary syndrome are overweight or have obesity and are at increased risk of a fatty liver. Additionally, many women with polycystic ovary syndrome have elevated levels of insulin, which is a hormone that helps control levels of blood glucose, also called blood sugar. By age 40, about 10 percent of overweight women with polycystic ovary syndrome develop abnormally high blood glucose levels (type 2 diabetes), and up to 35 percent develop prediabetes (higher-than-normal blood glucose levels that do not reach the cutoff for diabetes). Obesity and increased insulin levels (hyperinsulinemia) further increase the production of androgens in polycystic ovary syndrome.\n\nWomen with polycystic ovary syndrome are also at increased risk for developing metabolic syndrome, which is a group of conditions that include high blood pressure (hypertension), increased belly fat, high levels of unhealthy fats and low levels of healthy fats in the blood, and high blood glucose levels. About 20 percent of affected adults experience pauses in breathing during sleep (sleep apnea). Women with polycystic ovary syndrome are more likely than women in the general popluation to have mood disorders such as depression.
Scurvy
MedGen UID:
20684
Concept ID:
C0036474
Disease or Syndrome
Abnormally low concentrations of vitamin C in the blood.
Gonadoblastoma
MedGen UID:
104912
Concept ID:
C0206661
Neoplastic Process
The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
Desquamative interstitial pneumonia
MedGen UID:
65962
Concept ID:
C0238378
Disease or Syndrome
Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases (Visscher and Myers, 2006). See also interstitial lung disease-1 (ILD1; 619611). Desquamative interstitial pneumonitis (DIP) was originally described as a pathologic entity by Liebow et al. (1965). Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which Liebow et al. (1965) speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts (Visscher and Myers, 2006). Although DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking (Carrington et al., 1978), reports of a familial form with onset in infancy and early death suggest a genetic basis (Sharief et al., 1994). Cases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults (Nogee et al., 2001).
Cardiac valvular dysplasia, X-linked
MedGen UID:
78083
Concept ID:
C0262436
Disease or Syndrome
FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilation and rupture of the thoracic aortic, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.
Miller Dieker syndrome
MedGen UID:
78538
Concept ID:
C0265219
Disease or Syndrome
PAFAH1B1-related lissencephaly/subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.
Aspartylglucosaminuria
MedGen UID:
78649
Concept ID:
C0268225
Disease or Syndrome
Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).
Dysmorphic sialidosis with renal involvement
MedGen UID:
82778
Concept ID:
C0268232
Congenital Abnormality
Testosterone 17-beta-dehydrogenase deficiency
MedGen UID:
120626
Concept ID:
C0268296
Disease or Syndrome
HSD17B3 deficiency is an autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization (summary by Lindqvist et al., 2001).
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
MedGen UID:
75667
Concept ID:
C0268297
Disease or Syndrome
Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.
Ethanolaminosis
MedGen UID:
120637
Concept ID:
C0268423
Disease or Syndrome
Hooft disease
MedGen UID:
75686
Concept ID:
C0268479
Disease or Syndrome
Hyperleucine-isoleucinemia
MedGen UID:
82821
Concept ID:
C0268574
Disease or Syndrome
Tinea kerion
MedGen UID:
124446
Concept ID:
C0276742
Disease or Syndrome
A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by <i>Trichophyton</i> or <i>Microsporum</i> fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.
Rutland ciliary disorientation syndrome
MedGen UID:
83299
Concept ID:
C0340038
Disease or Syndrome
Thyroglobulin synthesis defect
MedGen UID:
87430
Concept ID:
C0342196
Disease or Syndrome
Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.
Fetal iodine deficiency disorder
MedGen UID:
83336
Concept ID:
C0342200
Disease or Syndrome
Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency.
Transcobalamin I deficiency
MedGen UID:
90993
Concept ID:
C0342700
Disease or Syndrome
A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.
Thiopurine S-methyltransferase deficiency
MedGen UID:
83352
Concept ID:
C0342801
Disease or Syndrome
The thiopurines include azathioprine (a pro-drug for mercaptopurine), mercaptopurine and thioguanine. They are used to treat a variety of immunological disorders such as rheumatoid arthritis, non- Hodgkin lymphoma and ulcerative colitis. Both mercaptopurine and thioguanine can exert cytotoxic effects through the formation of thioguanine nucleotides (TGNs), active metabolites that incorporate into DNA. Mercaptopurine and thioguanine are directly inactivated by thiopurine S-methyltransferase (TPMT). Individuals with two nonfunctional TPMT alleles are at 100% risk of potentially fatal myelosuppression, due to an increased buildup of toxic TGNs. Alternative agents or a drastically reduced dose are recommended for patients with this genotype. Patients heterozygous for a nonfunctional TPMT allele are at increased risk of myelosuppression, and reduced dosing is recommended for these individuals. These dosing guidelines have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.
Carbohydrate-deficient glycoprotein syndrome type III
MedGen UID:
91162
Concept ID:
C0349655
Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are divided into 2 main groups: type I CDGs (see, e.g., 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs (see, e.g., 212066) refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. Conventionally, untyped and unclassified cases are labeled 'CDG-x' (Orlean, 2000; Marquardt and Denecke, 2003). The phenotypes described in this entry most likely do not represent a single disorder, but have been referred by the authors as CDG-x and are included here pending further molecular characterization. In a review of CDGs, Marquardt and Denecke (2003) stated that more than 20% of CDG patients identified still cannot be ascribed to a known enzyme defect and are thus named CDG-x.
Myeloperoxidase deficiency
MedGen UID:
96015
Concept ID:
C0398595
Disease or Syndrome
A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.
Leukocyte adhesion deficiency type II
MedGen UID:
96022
Concept ID:
C0398739
Disease or Syndrome
Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (212065) and CDG2A (212066). Frydman (1996) contended that the neutrophil defect in CDG2C, which has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), is a manifestation of the disorder and that there are no cases of 'primary' LAD II. Etzioni and Harlan (1999) provided a comprehensive review of both leukocyte adhesion deficiency-1 (LAD1; 116920) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1. For a discussion of genetic heterogeneity of LAD, see 116920.
Slow acetylator due to N-acetyltransferase enzyme variant
MedGen UID:
164207
Concept ID:
C0878587
Finding
Salla disease
MedGen UID:
203368
Concept ID:
C1096903
Disease or Syndrome
Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood.
Sjogren syndrome
MedGen UID:
282890
Concept ID:
C1527336
Disease or Syndrome
Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia (Goransson et al., 2006). See 200400 for association of Sjogren syndrome with achalasia in sisters.
Macular corneal dystrophy
MedGen UID:
351514
Concept ID:
C1636149
Disease or Syndrome
Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000).
Spinal arachnoiditis
MedGen UID:
318191
Concept ID:
C1710146
Disease or Syndrome
A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.
Neuronal intestinal dysplasia, type B
MedGen UID:
318658
Concept ID:
C1832589
Disease or Syndrome
Disorder due cytochrome p450 CYP2D6 variant
MedGen UID:
323088
Concept ID:
C1837154
Disease or Syndrome
Macrocytosis, familial
MedGen UID:
333150
Concept ID:
C1838656
Disease or Syndrome
Properdin deficiency, X-linked
MedGen UID:
333322
Concept ID:
C1839454
Disease or Syndrome
Properdin (factor P) is a plasma protein that is active in the alternative complement pathway of the innate immune system. It is a positive regulatory factor that binds to many microbial surfaces to stabilize the C3b,Bb convertase. Deficiency of properdin is associated in particular with a heightened susceptibility to Neisseria species (Janeway et al., 2001).
Coronary artery disease, susceptibility to
MedGen UID:
333498
Concept ID:
C1840169
Finding
Glomuvenous malformation
MedGen UID:
374834
Concept ID:
C1841984
Disease or Syndrome
Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations (VMCM; 600195), but clinically are distinguishable: they have a cobble-stone appearance, have a consistency harder than that of venous malformations, and are painful on palpation. Histologically, GVMs are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels. The term glomus (Latin for ball) stems from the morphologically similar contractile cells of the Sucquet-Hoyer arteriovenous anastomoses in glomus bodies that are involved in cutaneous thermoregulation. Glomus cells in GVMs appear to be incompletely or improperly differentiated vascular smooth muscle cells, since they stain positively with smooth muscle cell alpha-actin (102620) and vimentin (193060) (summary by Brouillard et al., 2002). The genetic distinctness of glomuvenous malformations from mucocutaneous venous malformations is indicated by the fact that mutations have been found in the TIE2/TEK gene (600221) in mucocutaneous venous malformations and not in glomuvenous malformations.
Granulomas, congenital cerebral
MedGen UID:
336683
Concept ID:
C1844406
Disease or Syndrome
Membranoproliferative glomerulonephritis, X-linked
MedGen UID:
336706
Concept ID:
C1844501
Disease or Syndrome
Habib et al. (1973) recognized 2 morphologic classes for the glomerular changes seen in patients with mesangiocapillary (membranoproliferative) glomerulonephritis (MPGN). Type I is characterized by double contour appearance of the capillary walls due to mesangial cell interposition, with nonargyrophilic subendothelial deposits which are finely granular on electron microscopy. Type II is characterized by linear dense deposits within the basement membrane and only rare double contours. These 2 types appear to be distinct with no conversion of one type to another on serial biopsy. Strife et al. (1977) described a third variety in which there are not only subendothelial deposits but also numerous subepithelial and intramembranous deposits, associated with replication of the lamina densa and frequently disruption of the whole basement membrane.
Fingerprint body myopathy
MedGen UID:
337026
Concept ID:
C1844560
Disease or Syndrome
Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.
Infantile-onset X-linked spinal muscular atrophy
MedGen UID:
337123
Concept ID:
C1844934
Disease or Syndrome
X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Often congenital contractures and/or fractures are present. Intellect is normal. Life span is significantly shortened because of progressive ventilatory insufficiency resulting from chest muscle involvement.
Oculogastrointestinal muscular dystrophy
MedGen UID:
336376
Concept ID:
C1848586
Disease or Syndrome
An extremely rare autosomal recessively inherited neuromuscular disease characterised by ocular manifestations such as ptosis and diplopia followed by chronic diarrhoea, malnutrition and intestinal pseudo-obstruction.
T-substance anomaly
MedGen UID:
338528
Concept ID:
C1848724
Finding
Thymic-renal-anal-lung dysplasia
MedGen UID:
336425
Concept ID:
C1848812
Congenital Abnormality
This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple.
Thanatophoric dysplasia, Glasgow variant
MedGen UID:
376457
Concept ID:
C1848865
Disease or Syndrome
Sucrosuria, hiatus hernia and intellectual disability
MedGen UID:
338583
Concept ID:
C1848963
Disease or Syndrome
Sodium-potassium-ATPase activity of red cell
MedGen UID:
376532
Concept ID:
C1849169
Cell Function
Pygmy
MedGen UID:
376605
Concept ID:
C1849524
Disease or Syndrome
Pseudouridinuria and mental defect
MedGen UID:
376629
Concept ID:
C1849648
Disease or Syndrome
Progesterone resistance
MedGen UID:
337889
Concept ID:
C1849699
Disease or Syndrome
Progesterone prepares the endometrium for blastocyst implantation and allows maintenance of pregnancy. The major sources of progesterone are the corpus luteum during the second half of the menstrual cycle and at the beginning of pregnancy, and the placenta. The main hormones responsible for stimulation of progesterone secretion are luteinizing hormone (LH) for the corpus luteum of the menstrual cycle and chorionic gonadotropin for the corpus luteum of pregnancy. Complete end-organ resistance to progesterone would be incompatible with reproductive competence in females. Males would not be expected to be affected since progesterone has no known function in men. Failure of the uterus to respond to progesterone would lead to the development of a 'constantly proliferative' endometrium incompatible with blastocyst implantation. Partial resistance to progesterone, on the other hand, would be expected to be associated with various degrees of incomplete maturation of the endometrium, perhaps expressed clinically as infertility or early abortions. The syndrome would present with the clinical and histologic picture of a luteal phase defect in which the life span of the corpus luteum and the plasma progesterone concentrations would be normal or elevated.
Platelet prostacyclin receptor defect
MedGen UID:
337912
Concept ID:
C1849774
Disease or Syndrome
Short stature due to growth hormone qualitative anomaly
MedGen UID:
340412
Concept ID:
C1849779
Disease or Syndrome
Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal or slightly increased GH secretion, pathologically low IGF1 (147440) levels, and normal catch-up growth on GH replacement therapy (Besson et al., 2005).
Oculorenocerebellar syndrome
MedGen UID:
340516
Concept ID:
C1850331
Disease or Syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported.
Neutrophil actin dysfunction
MedGen UID:
338036
Concept ID:
C1850380
Disease or Syndrome
Neutrophil actin dysfunction (NAD) is an immunologic disorder characterized by early onset of recurrent infections, including oral, skin, and respiratory. Organisms are mainly bacterial and fungal. Patients tend to develop fever and hepatosplenomegaly with continued infection; bone marrow transplant is an effective treatment. The disorder results from impaired neutrophil mobility and chemotaxis associated with abnormal actin dynamics. Although a causative mutation has not been identified, studies have shown an association between the disorder and increased levels of a 47-kD F-actin-binding protein known as LSP1 (153432) and decreased levels of an unknown 89-kD protein (summary by Coates et al., 1991 and Howard et al., 1998).
Neuronal ceroid lipofuscinosis 1
MedGen UID:
340540
Concept ID:
C1850451
Disease or Syndrome
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children. Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis See also CLN2 (204500), caused by mutation in the TPP1 gene (607998) on chromosome 11p15; CLN3 (204200), caused by mutation in the CLN3 gene (607042) on 16p12; CLN4 (162350), caused by mutation in the DNAJC5 gene (611203) on 20q13; CLN5 (256731), caused by mutation in the CLN5 gene (608102) on 13q22; CLN6A (601780) and CLN6B (204300), both caused by mutation in the CLN6 gene (606725) on 15q21; CLN7 (610951), caused by mutation in the MFSD8 gene (611124) on 4q28; CLN8 (600143) and the Northern epilepsy variant of CLN8 (610003), both caused by mutation in the CLN8 gene (607837) on 8p23; CLN10 (610127), caused by mutation in the CTSD gene (116840) on 11p15; CLN11 (614706), caused by mutation in the GRN gene (138945) on 17q21; CLN13 (615362), caused by mutation in the CTSF gene (603539) on 11q13; and CLN14 (611726), caused by mutation in the KCTD7 gene (611725) on 7q11. CLN9 (609055) has not been molecularly characterized. A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS; 606693).
Myopathy, granulovacuolar lobular, with electrical myotonia
MedGen UID:
338114
Concept ID:
C1850745
Disease or Syndrome
Myasthenia, congenital, refractory to acetylcholinesterase inhibitors
MedGen UID:
338127
Concept ID:
C1850806
Disease or Syndrome
Chronic mucocutaneous candidiasis due to monocyte chemotactic disorder
MedGen UID:
343238
Concept ID:
C1854982
Disease or Syndrome
Mitochondrial myopathy with a defect in mitochondrial-protein transport
MedGen UID:
381541
Concept ID:
C1855034
Disease or Syndrome
Metaphyseal chondrodysplasia, Pena type
MedGen UID:
343289
Concept ID:
C1855195
Disease or Syndrome
Magnesium, elevated red cell
MedGen UID:
343360
Concept ID:
C1855464
Finding
Chronic mucocutaneous candidiasis due to lymphokine deficiency
MedGen UID:
340878
Concept ID:
C1855471
Disease or Syndrome
Chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation
MedGen UID:
340881
Concept ID:
C1855474
Disease or Syndrome
Chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation
MedGen UID:
344504
Concept ID:
C1855476
Pathologic Function
Lethal Larsen-like syndrome
MedGen UID:
343375
Concept ID:
C1855535
Disease or Syndrome
A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.
Intrinsic factor and r binder, combined congenital deficiency of
MedGen UID:
340942
Concept ID:
C1855721
Disease or Syndrome
Inosine phosphorylase deficiency, immune defect due to
MedGen UID:
344562
Concept ID:
C1855737
Disease or Syndrome
Epilepsy-telangiectasia syndrome
MedGen UID:
384017
Concept ID:
C1856929
Disease or Syndrome
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.
Dermatoleukodystrophy
MedGen UID:
387794
Concept ID:
C1857314
Disease or Syndrome
This syndrome is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.
Conotruncal heart malformations
MedGen UID:
341803
Concept ID:
C1857586
Disease or Syndrome
A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).
Familial reactive perforating collagenosis
MedGen UID:
347504
Concept ID:
C1857624
Disease or Syndrome
Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.
Citrulline transport defect
MedGen UID:
349092
Concept ID:
C1859084
Disease or Syndrome
Infantile choroidocerebral calcification syndrome
MedGen UID:
395174
Concept ID:
C1859092
Disease or Syndrome
This syndrome has characteristics of intellectual deficit, calcification of the choroid plexus and elevated levels of cerebrospinal fluid protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.
Cerebral sclerosis similar to Pelizaeus-Merzbacher disease
MedGen UID:
395210
Concept ID:
C1859258
Disease or Syndrome
Cephalin lipidosis
MedGen UID:
395225
Concept ID:
C1859307
Disease or Syndrome
Premature centromere division
MedGen UID:
349138
Concept ID:
C1859308
Disease or Syndrome
Cardiac lipidosis, familial
MedGen UID:
395234
Concept ID:
C1859332
Disease or Syndrome
Anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane
MedGen UID:
349245
Concept ID:
C1859786
Disease or Syndrome
Amobarbital, deficient N-hydroxylation of
MedGen UID:
347241
Concept ID:
C1859816
Disease or Syndrome
Alpha-2 deficient collagen disease
MedGen UID:
395359
Concept ID:
C1859850
Disease or Syndrome
Zinc, elevated plasma
MedGen UID:
349756
Concept ID:
C1860228
Finding
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
MedGen UID:
348108
Concept ID:
C1860464
Disease or Syndrome
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
Vasculitis, lymphocytic, nodular
MedGen UID:
348635
Concept ID:
C1860519
Disease or Syndrome
Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.
Tremor of intention, ataxia, and lipofuscinosis
MedGen UID:
396002
Concept ID:
C1860872
Disease or Syndrome
Dermatitis, atopic
MedGen UID:
350353
Concept ID:
C1864155
Disease or Syndrome
Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
MedGen UID:
355878
Concept ID:
C1864966
Disease or Syndrome
Neural tube defects, folate-sensitive
MedGen UID:
355746
Concept ID:
C1866558
Disease or Syndrome
Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (206500) (Detrait et al., 2005). Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects. Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects.
Spondyloarthropathy, susceptibility to, 2
MedGen UID:
355791
Concept ID:
C1866738
Disease or Syndrome
Neuropathy, hereditary sensory and autonomic, type 2A
MedGen UID:
416701
Concept ID:
C2752089
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.
Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
MedGen UID:
444003
Concept ID:
C2931214
Disease or Syndrome
Encephalopathy due to GLUT1 deficiency
MedGen UID:
1645412
Concept ID:
C4551966
Disease or Syndrome
The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) is now known to be a continuum that includes the classic phenotype as well as paroxysmal exercise-induced dyskinesia and epilepsy (previously known as dystonia 18 [DYT18]) and paroxysmal choreoathetosis with spasticity (previously known as dystonia 9 [DYT9]), atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic findings including intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia. The classic phenotype is characterized by infantile-onset seizures, delayed neurologic development, acquired microcephaly, and complex movement disorders. Seizures in classic early-onset Glut1 DS begin before age six months. Several seizure types occur: generalized tonic or clonic, focal, myoclonic, atypical absence, atonic, and unclassified. In some infants, apneic episodes and abnormal episodic eye-head movements similar to opsoclonus may precede the onset of seizures. The frequency, severity, and type of seizures vary among affected individuals and are not related to disease severity. Cognitive impairment, ranging from learning disabilities to severe intellectual disability, is typical. The complex movement disorder, characterized by ataxia, dystonia, and chorea, may occur in any combination and may be continuous, paroxysmal, or continual with fluctuations in severity influenced by environmental factors such as fasting or with infectious stress. Symptoms often improve substantially when a ketogenic diet is started.
Epidermodysplasia verruciformis, susceptibility to, 1
MedGen UID:
1648341
Concept ID:
C4722564
Finding
Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer. EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas (summary by Ramoz et al., 2000). Genetic Heterogeneity of Susceptibility to Epidermodysplasia Verruciformis Susceptibility to EV2 (618231) is conferred by mutation in the TMC8 gene (605829) on chromosome 17q25; EV3 (618267) by mutation in the CIB1 gene (602293) on chromosome 15q26; EV4 (618307) by mutation in the RHOH gene (602037) on chromosome 4p13; and EV5 (618309) by mutation in the IL7 gene (146660) on chromosome 8q12.

Professional guidelines

PubMed

Hong S, Wang L, Zhao D, Zhang Y, Chen Y, Tan J, Liang L, Zhu T
Mol Genet Genomic Med 2019 Jun;7(6):e684. Epub 2019 Apr 9 doi: 10.1002/mgg3.684. PMID: 30968598Free PMC Article

Recent clinical studies

Etiology

Wu J, Niu L, Yang K, Xu J, Zhang D, Ling J, Xia P, Wu Y, Liu X, Liu J, Zhang J, Yu P
Ageing Res Rev 2024 Apr;96:102234. Epub 2024 Feb 16 doi: 10.1016/j.arr.2024.102234. PMID: 38367813
Mu L, Ye Z, Hu J, Zhang Y, Chen K, Sun H, Li R, Mao W, Long X, Zhang C, Lai Y, Liu J, Zhao Y, Qiao J
EBioMedicine 2023 Mar;89:104492. Epub 2023 Feb 28 doi: 10.1016/j.ebiom.2023.104492. PMID: 36863088Free PMC Article
Jin L, Sun Y, Li Y, Zhang H, Yu W, Li Y, Xin Y, Alsareii SA, Wang Q, Zhang D
Peptides 2021 Sep;143:170597. Epub 2021 Jun 10 doi: 10.1016/j.peptides.2021.170597. PMID: 34118361
Kocyigit I, Ozturk F, Eroglu E, Karaca Z, Kaynar AS, Cetin M, Tokgoz B, Sipahioglu MH, Bayramov R, Sen A, Oymak O, Ecder T, Axelsson J
Clin Exp Nephrol 2019 Sep;23(9):1130-1140. Epub 2019 May 27 doi: 10.1007/s10157-019-01748-z. PMID: 31134465
Hernández Bautista RJ, Mahmoud AM, Königsberg M, López Díaz Guerrero NE
Biomed Pharmacother 2019 Mar;111:503-516. Epub 2018 Dec 28 doi: 10.1016/j.biopha.2018.12.108. PMID: 30597304

Diagnosis

Jin L, Sun Y, Li Y, Zhang H, Yu W, Li Y, Xin Y, Alsareii SA, Wang Q, Zhang D
Peptides 2021 Sep;143:170597. Epub 2021 Jun 10 doi: 10.1016/j.peptides.2021.170597. PMID: 34118361
Kocyigit I, Ozturk F, Eroglu E, Karaca Z, Kaynar AS, Cetin M, Tokgoz B, Sipahioglu MH, Bayramov R, Sen A, Oymak O, Ecder T, Axelsson J
Clin Exp Nephrol 2019 Sep;23(9):1130-1140. Epub 2019 May 27 doi: 10.1007/s10157-019-01748-z. PMID: 31134465
Hong S, Wang L, Zhao D, Zhang Y, Chen Y, Tan J, Liang L, Zhu T
Mol Genet Genomic Med 2019 Jun;7(6):e684. Epub 2019 Apr 9 doi: 10.1002/mgg3.684. PMID: 30968598Free PMC Article
Hernández Bautista RJ, Mahmoud AM, Königsberg M, López Díaz Guerrero NE
Biomed Pharmacother 2019 Mar;111:503-516. Epub 2018 Dec 28 doi: 10.1016/j.biopha.2018.12.108. PMID: 30597304
Jia X, Pan X, Xie J, Shen P, Wang Z, Li Y, Wang W, Chen N
Clin Nephrol 2016 Jan;85(1):30-7. doi: 10.5414/CN108693. PMID: 26636325

Therapy

Mu L, Ye Z, Hu J, Zhang Y, Chen K, Sun H, Li R, Mao W, Long X, Zhang C, Lai Y, Liu J, Zhao Y, Qiao J
EBioMedicine 2023 Mar;89:104492. Epub 2023 Feb 28 doi: 10.1016/j.ebiom.2023.104492. PMID: 36863088Free PMC Article
Jin L, Sun Y, Li Y, Zhang H, Yu W, Li Y, Xin Y, Alsareii SA, Wang Q, Zhang D
Peptides 2021 Sep;143:170597. Epub 2021 Jun 10 doi: 10.1016/j.peptides.2021.170597. PMID: 34118361
Hernández Bautista RJ, Mahmoud AM, Königsberg M, López Díaz Guerrero NE
Biomed Pharmacother 2019 Mar;111:503-516. Epub 2018 Dec 28 doi: 10.1016/j.biopha.2018.12.108. PMID: 30597304
Pan SJ, Tan YL, Yao SW, Xin Y, Yang X, Liu J, Xiong J
Acta Pharmacol Sin 2018 Sep;39(9):1463-1472. Epub 2018 May 10 doi: 10.1038/aps.2017.207. PMID: 30150788Free PMC Article
Bourre JM
J Nutr Health Aging 2006 Sep-Oct;10(5):377-85. PMID: 17066209

Prognosis

Kocyigit I, Ozturk F, Eroglu E, Karaca Z, Kaynar AS, Cetin M, Tokgoz B, Sipahioglu MH, Bayramov R, Sen A, Oymak O, Ecder T, Axelsson J
Clin Exp Nephrol 2019 Sep;23(9):1130-1140. Epub 2019 May 27 doi: 10.1007/s10157-019-01748-z. PMID: 31134465
Di Bello V, Talini E, Dell'Omo G, Giannini C, Delle Donne MG, Canale ML, Nardi C, Palagi C, Dini FL, Penno G, Del Prato S, Marzilli M, Pedrinelli R
Am J Hypertens 2010 Apr;23(4):405-12. Epub 2009 Dec 31 doi: 10.1038/ajh.2009.258. PMID: 20044741

Clinical prediction guides

Kocyigit I, Ozturk F, Eroglu E, Karaca Z, Kaynar AS, Cetin M, Tokgoz B, Sipahioglu MH, Bayramov R, Sen A, Oymak O, Ecder T, Axelsson J
Clin Exp Nephrol 2019 Sep;23(9):1130-1140. Epub 2019 May 27 doi: 10.1007/s10157-019-01748-z. PMID: 31134465
Hong S, Wang L, Zhao D, Zhang Y, Chen Y, Tan J, Liang L, Zhu T
Mol Genet Genomic Med 2019 Jun;7(6):e684. Epub 2019 Apr 9 doi: 10.1002/mgg3.684. PMID: 30968598Free PMC Article
Shkil F, Siomava N, Voronezhskaya E, Diogo R
Sci Rep 2019 Apr 1;9(1):5413. doi: 10.1038/s41598-019-41912-9. PMID: 30931985Free PMC Article
Hernández Bautista RJ, Mahmoud AM, Königsberg M, López Díaz Guerrero NE
Biomed Pharmacother 2019 Mar;111:503-516. Epub 2018 Dec 28 doi: 10.1016/j.biopha.2018.12.108. PMID: 30597304
Di Bello V, Talini E, Dell'Omo G, Giannini C, Delle Donne MG, Canale ML, Nardi C, Palagi C, Dini FL, Penno G, Del Prato S, Marzilli M, Pedrinelli R
Am J Hypertens 2010 Apr;23(4):405-12. Epub 2009 Dec 31 doi: 10.1038/ajh.2009.258. PMID: 20044741

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