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Enterokinase Deficiency (ENTKD)

Alias:
Enteropeptidase Deficiency
Congenital Enteropathy Due to Enteropeptidase Deficiency
Congenital Enterokinase Deficiency
Deficiency of Enteropeptidase
Entkd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Enterokinase Deficiency, also known as enteropeptidase deficiency, is related to diarrhea and arrhythmogenic right ventricular cardiomyopathy. An important gene associated with Enterokinase Deficiency is TMPRSS15 (Transmembrane Serine Protease 15), and among its related pathways/superpathways is Cobalamin (Cbl, vitamin B12) transport and metabolism. Affiliated tissues include small intestine, and related phenotypes are failure to thrive and diarrhea
Related ID：
MALACARDS：ENT006
OMIM：226200
MESH：C562649

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
9
59
10
ENT006

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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