ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 600351
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002013) Vomiting 191 / 7739
2
(HPO:0002014) Diarrhea 225 / 7739
3
(HPO:0002242) Abnormality of the intestine 42 / 7739
4
(HPO:0002039) Anorexia 62 / 7739
5
(HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
6
(HPO:0001635) Congestive heart failure 232 / 7739
7
(HPO:0004315) IgG deficiency 38 / 7739
8
(HPO:0004313) Decreased antibody level in blood 47 / 7739
9
(HPO:0001875) Neutropenia 83 / 7739
10
(HPO:0003073) Hypoalbuminemia 40 / 7739
11
(HPO:0003075) Hypoproteinemia 27 / 7739
12
(HPO:0000969) Edema 117 / 7739
13
(OMIM) Recurrent acute, secretory diarrhea 1 / 7739
14
(OMIM) IgG2 subclass deficiency 1 / 7739
15
(OMIM) Familial enteropathy 1 / 7739
16
(OMIM) Jejunal biopsy shows club-shaped jejunal villi broadened by edema and histiocytes with imbibed fluid with normal overlying intestinal epithelium and brush border 1 / 7739
17
(OMIM) Anorexia and vomiting 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a large Mennonite kindred in Alberta, Canada, Smith et al. (1994) described a seemingly 'new' familial enteropathy manifested by recurrent acute, life-threatening secretory diarrhea associated with distinctive jejunal histologic changes and IgG2 subclass deficiency. Symptoms began abruptly ...