Immunodeficiency 31c (IMD31C)

Alias:
Candidiasis, Familial, 7
Imd31c
Candf7
Autoimmune Enteropathy and Endocrinopathy - Susceptibility to Chronic Infections Syndrome
Autoimmune Enteropathy and Endocrinopathy-Susceptibility to Chronic Infections Syndrome
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant
Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant
Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis
Immunodeficiency, Type 31c, Autosomal Dominant
Immunodeficiency 31c, Autosomal Dominant
Autosomal Dominant Immunodeficiency 31c
Chronic Mucocutaneous Candidiasis 7
Familial Candidiasis 7
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 31c, also known as candidiasis, familial, 7, is related to candidiasis, familial, 6 and candidiasis, familial, 1. An important gene associated with Immunodeficiency 31c is STAT1 (Signal Transducer And Activator Of Transcription 1), and among its related pathways/superpathways are Interleukin-2 family signaling and Osteoblast differentiation and related diseases. Affiliated tissues include skin and b cells, and related phenotypes are delayed skeletal maturation and short stature
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
10
88
51

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
Year
IF
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