Congenital enteropathy due to enteropeptidase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: ENTEROPEPTIDASE DEFICIENCY
Congenital enterokinase deficiency
Number of Symptoms 7
OrphanetNr: 168601
OMIM Id: 226200
ICD-10: K90.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital intestinal disease due to an enzymatic defect
 -Rare gastroenterologic disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002014) Diarrhea 225 / 7739
2
 (HPO:0001508) Failure to thrive 454 / 7739
3
 (HPO:0003075) Hypoproteinemia 27 / 7739
4
 (HPO:0007609) Hypoproteinemic edema 1 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
 (OMIM) Enteropeptidase deficiency 1 / 7739
7
 (OMIM) Enterokinase deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hadorn et al. (1969) described a female infant with diarrhea, failure to thrive, and hypoproteinemic edema who was shown to have deficiency of intestinal enterokinase. The parents were not studied. Haworth et al. (1975) reported the cases of ...
Molecular genetics OMIM In the families with enterokinase deficiency described by Haworth et al. (1971, 1975), Holzinger et al. (2002) identified mutations in PRSS7 gene (606635..0001-606635.0004).