Dyskeratosis Congenita, Autosomal Dominant 3 (DKCA3)

Alias:
Dkca3
Dyskeratosis Congenita, Autosomal Dominant, 3
Autosomal Dominant Dyskeratosis Congenita 3
Dyskeratosis Congenita, Autosomal Dominant, Type 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dyskeratosis Congenita, Autosomal Dominant 3, also known as dkca3, is related to dyskeratosis congenita, autosomal dominant 1 and hoyeraal-hreidarsson syndrome, and has symptoms including cerebellar ataxia and dry skin. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 3 is TINF2 (TERF1 Interacting Nuclear Factor 2), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cellular responses to stimuli. Affiliated tissues include bone marrow and skin, and related phenotypes are nail dysplasia and thrombocytopenia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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6
30
10

Medical Symptom

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Categorization
Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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