Gastrointestinal Defects and Immunodeficiency Syndrome 1 (GIDID1)

Alias:
Familial Intestinal Polyatresia Syndrome
Fipa
Gastrointestinal Defects and Immunodeficiency Syndrome
Familial Isolated Pituitary Adenoma
Multiple Gastrointestinal Atresias
Multiple Intestinal Atresia
Intestinal Atresia, Multiple
Multiple Intestinal Atresia and/or Inflammatory Bowel Disease with or Without Immunodeficiency
Gastrointestinal Defect and Immunodeficiency Syndrome
Gidid1
Minat
Gidid
Intestinal Atresia, Multiple and/or Inflammatory Bowel Disease with or Without Immunodeficiency
Combined Immunodeficiency-Enteropathy Spectrum
Pituitary Adenoma, Familial Isolated
Pituitary Adenoma Predisposition
Intestinal Atresia Multiple
Cid-Mia/early-Onset Ibd
Mia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gastrointestinal Defects and Immunodeficiency Syndrome 1, also known as familial intestinal polyatresia syndrome, is related to intestinal atresia and pituitary adenoma 1, multiple types. An important gene associated with Gastrointestinal Defects and Immunodeficiency Syndrome 1 is TTC7A (Tetratricopeptide Repeat Domain 7A), and among its related pathways/superpathways are IL-10 Pathway and Other interleukin signaling. Affiliated tissues include pituitary and thymus, and related phenotypes are intestinal atresia and duodenal stenosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
--
26
278
35

Medical Symptom

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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

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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
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IF
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