TRYPSINOGEN DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614044
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:0002023) Anal atresia rare [HPO:skoehler] 135 / 7739
2
(HPO:0001508) Failure to thrive 454 / 7739
3
(HPO:0003075) Hypoproteinemia 27 / 7739
4
(OMIM) Normal sweat electrolytes 3 / 7739
5
(OMIM) Nutritional edema 1 / 7739
6
(OMIM) Trypsinogen deficiency 1 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Failure to thrive, nutritional edema, and hypoproteinemia with normal sweat electrolytes were features of 2 affected male infants reported by Townes (1965) and Townes et al. (1967). The infants had deficiency of trypsinogen (276000). A male sib of ...