Details of Disease

General Information of Disease (ID: DISIAV4E)

Disease Name Dyskeratosis congenita, autosomal recessive 3
Synonyms autosomal recessive dyskeratosis congenita 3; dyskeratosis congenita, autosomal recessive 3; DKCB3; dyskeratosis congenita, autosomal recessive type 3
Definition A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISSXV0K: Dyskeratosis congenita
DISIAV4E: Dyskeratosis congenita, autosomal recessive 3
Disease Identifiers
MONDO ID
MONDO_0013520
UMLS CUI
C3151442
OMIM ID
613988
MedGen ID
462792

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WRAP53 OTYJQQSG Definitive Autosomal recessive [1]
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References

1 Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes Dev. 2011 Jan 1;25(1):11-6. doi: 10.1101/gad.2006411.