ENTEROPATHY, PROTEIN-LOSING

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 226300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001217) Clubbing 39 / 7739
2
 (HPO:0001541) Ascites 94 / 7739
3
 (HPO:0002027) Abdominal pain 184 / 7739
4
 (HPO:0002014) Diarrhea 225 / 7739
5
 (HPO:0002242) Abnormality of the intestine 42 / 7739
6
 (HPO:0001510) Growth delay 295 / 7739
7
 (HPO:0002639) Budd-Chiari syndrome 3 / 7739
8
 (HPO:0001891) Iron deficiency anemia 22 / 7739
9
 (HPO:0003075) Hypoproteinemia 27 / 7739
10
 (HPO:0000969) Edema 117 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (MedDRA:10051734) Hepatic vein stenosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: