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Intellectual disability, autosomal recessive 56(MRT56)

MedGen UID:: 934670
•Concept ID:: C4310703
•: Disease or Syndrome

Synonyms:	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56; MRT56

Gene (location): Gene(s) directly associated with this condition or phenotype.	ZC3H14 (14q31.3)

Monarch Initiative:	MONDO:0014930
OMIM®:	617125

Definition

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene. [from MONDO]

Clinical features

From HPO

Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

See: Feature record | Search on this feature

Abnormality of the nervous system
- Intellectual disability

Professional guidelines

PubMed

Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study.

Toktaş İ, Sarıbaş S, Canpolat S, Erdem Ö, Özbek MN
Turk J Pediatr 2022;64(6):985-992. doi: 10.24953/turkjped.2022.467. PMID: 36583880

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815 Free PMC Article

See all (2)

Recent clinical studies

Etiology

Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study.

Toktaş İ, Sarıbaş S, Canpolat S, Erdem Ö, Özbek MN
Turk J Pediatr 2022;64(6):985-992. doi: 10.24953/turkjped.2022.467. PMID: 36583880

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815 Free PMC Article

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

Yunisova G, Tufekcioglu Z, Dogu O, Bilgic B, Kaleagasi H, Akca Kalem S, Lohmann E, Gurvit HI, Emre M, Hanagasi HA
Neurodegener Dis 2019;19(5-6):218-224. Epub 2020 Apr 29 doi: 10.1159/000506770. PMID: 32349000

Diagnostic Yield of Intellectual Disability Gene Panels.

Pekeles H, Accogli A, Boudrahem-Addour N, Russell L, Parente F, Srour M
Pediatr Neurol 2019 Mar;92:32-36. Epub 2018 Nov 22 doi: 10.1016/j.pediatrneurol.2018.11.005. PMID: 30581057

Etiology and recurrence risk in Rubinstein-Taybi syndrome.

Hennekam RC, Stevens CA, Van de Kamp JJ
Am J Med Genet Suppl 1990;6:56-64. doi: 10.1002/ajmg.1320370610. PMID: 2118780

See all (11)

Diagnosis

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815 Free PMC Article

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review.

Mir YR, Kuchay RAH
J Med Genet 2019 Sep;56(9):567-573. Epub 2019 Mar 6 doi: 10.1136/jmedgenet-2018-105821. PMID: 30842223

Diagnostic Yield of Intellectual Disability Gene Panels.

Pekeles H, Accogli A, Boudrahem-Addour N, Russell L, Parente F, Srour M
Pediatr Neurol 2019 Mar;92:32-36. Epub 2018 Nov 22 doi: 10.1016/j.pediatrneurol.2018.11.005. PMID: 30581057

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R
JAMA Psychiatry 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. PMID: 28097321

See all (19)

Therapy

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

Court orders on procreation.

Matevosyan NR
Arch Gynecol Obstet 2016 Jan;293(1):87-99. Epub 2015 Jun 11 doi: 10.1007/s00404-015-3770-6. PMID: 26063342

See all (2)

Prognosis

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.

Amin M, Vignal C, Eltaraifee E, Mohammed IN, Hamed AAA, Elseed MA, Babai A, Elbadi I, Mustafa D, Abubaker R, Mustafa M, Drunat S, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I
BMC Med Genomics 2022 Nov 8;15(1):236. doi: 10.1186/s12920-022-01354-1. PMID: 36348459 Free PMC Article

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815 Free PMC Article

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.

Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S
Brain Dev 2018 Jan;40(1):58-64. Epub 2017 Jul 26 doi: 10.1016/j.braindev.2017.07.003. PMID: 28756000

Etiology and recurrence risk in Rubinstein-Taybi syndrome.

Hennekam RC, Stevens CA, Van de Kamp JJ
Am J Med Genet Suppl 1990;6:56-64. doi: 10.1002/ajmg.1320370610. PMID: 2118780

See all (6)

Clinical prediction guides

Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.

Köse E, Kasapkara ÇS, İnci A, Yıldız Y, Sürücü Kara İ, Kahraman AB, Tümer L, Dursun A, Eminoğlu FT
Eur J Med Genet 2024 Apr;68:104927. Epub 2024 Feb 19 doi: 10.1016/j.ejmg.2024.104927. PMID: 38382588

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Alghamdi M, Bashiri FA, Abdelhakim M, Adly N, Jamjoom DZ, Sumaily KM, Alghanem B, Arold ST
Clin Genet 2021 Jan;99(1):99-110. Epub 2020 Sep 16 doi: 10.1111/cge.13843. PMID: 32888189 Free PMC Article

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

Castori M, Valiante M, Pascolini G, Leuzzi V, Pizzuti A, Grammatico P
Eur J Med Genet 2013 Oct;56(10):570-6. Epub 2013 Aug 27 doi: 10.1016/j.ejmg.2013.08.004. PMID: 23994350

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD; HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium
Nat Genet 2002 Nov;32(3):448-52. Epub 2002 Oct 21 doi: 10.1038/ng1012. PMID: 12389028

See all (9)

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Links from Gene

Intellectual disability, autosomal recessive 56(MRT56)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

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