Details of Disease | DrugMAP

General Information of Disease (ID: DISU5O85)

Disease Name	Dyskeratosis congenita, autosomal dominant 3
Synonyms	autosomal dominant dyskeratosis congenita 3; dyskeratosis congenita, autosomal dominant 3; DKCA3; dyskeratosis congenita, autosomal dominant type 3
Definition	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.
Disease Hierarchy	DISSXV0K: Dyskeratosis congenita DIS3HIWD: Autosomal dominant disease DISU5O85: Dyskeratosis congenita, autosomal dominant 3
Disease Identifiers	MONDO ID MONDO_0013522 UMLS CUI C3151445 OMIM ID 613990 MedGen ID 462795

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
TINF2	OT861N2N	Strong	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.