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Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive(IBD31)

MedGen UID:: 1783277
•Concept ID:: C5444224
•: Disease or Syndrome

Synonyms:	IBD31; INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE

Gene (location): Gene(s) directly associated with this condition or phenotype.	IL37 (2q14.1)

Monarch Initiative:	MONDO:0030314
OMIM®:	619398

Definition

Infantile ulcerative colitis (IBD31) is characterized by the presence of ulcers throughout the colon and rectum with normal-appearing ileum. Affected infants present with recurrent bloody diarrhea with anemia and leukocytosis, with extensive lymphoplasmocytic infiltration, cryptitis, and apoptotic crypt abcesses throughout the colon and rectum (Zhang et al., 2021). Infantile bowel disease has also been referred to as very-early-onset IBD (VEOIBD). For a general description and discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis, see IBD1 (266600). [from OMIM]

Clinical features

From HPO

Ulcerative colitis

MedGen UID:: 3532
•Concept ID:: C0009324
•: Disease or Syndrome

A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.

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Bloody diarrhea

MedGen UID:: 56232
•Concept ID:: C0151594
•: Disease or Syndrome

Passage of many stools containing blood.

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Motor delay

MedGen UID:: 381392
•Concept ID:: C1854301
•: Finding

A type of Developmental delay characterized by a delay in acquiring motor skills.

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Anemia

MedGen UID:: 1526
•Concept ID:: C0002871
•: Disease or Syndrome

A reduction in erythrocytes volume or hemoglobin concentration.

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Leukocytosis

MedGen UID:: 9736
•Concept ID:: C0023518
•: Disease or Syndrome

An abnormal increase in the number of leukocytes in the blood.

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Elevated erythrocyte sedimentation rate

MedGen UID:: 57727
•Concept ID:: C0151632
•: Finding

An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.

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Elevated circulating C-reactive protein concentration

MedGen UID:: 892906
•Concept ID:: C4023452
•: Finding

An abnormal elevation of the C-reactive protein level in the blood circulation.

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Abnormality of blood and blood-forming tissues
- Anemia
Abnormality of metabolism/homeostasis
- Elevated circulating C-reactive protein concentration
- Elevated erythrocyte sedimentation rate
Abnormality of the digestive system
- Bloody diarrhea
- Ulcerative colitis
Abnormality of the immune system
- Leukocytosis
Abnormality of the nervous system
- Motor delay

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Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive(IBD31)

Definition

Clinical features

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