Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 (ICF1)

Alias:
Immunodeficiency Syndrome, Variable
Centromeric Instability Immunodeficiency Syndrome
Icf1
Ciid
Immune Deficiency, Variable, with Centromeric Instability of Chromosomes 1, 9, and 16
Variable Immune Deficiency with Centromeric Instability of Chromosomes 1 9 and 16
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 1
Centromeric Instability, Immunodeficiency Syndrome
Variable Immunodeficiency Syndrome
Common Variable Immunodeficiency
Chromosomal Instability
Icf Syndrome 1
Icf Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1, also known as immunodeficiency syndrome, variable, is related to immunodeficiency-centromeric instability-facial anomalies syndrome and immunodeficiency, common variable, 10, and has symptoms including diarrhea An important gene associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 is DNMT3B (DNA Methyltransferase 3 Beta). The drugs Rifaximin and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and t cells.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
9
45
55

Medical Symptom

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

Gene & Mutation

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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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IF
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