Details of Disease | DrugMAP

General Information of Disease (ID: DISPG5HC)

Disease Name	Dyskeratosis congenita, autosomal dominant 2
Synonyms	dyskeratosis congenita, autosomal recessive 4; autosomal dominant dyskeratosis congenita 2; dyskeratosis congenita, autosomal dominant 2; DKCA2; dyskeratosis congenita, autosomal dominant type 2
Definition	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.
Disease Hierarchy	DISSXV0K: Dyskeratosis congenita DIS3HIWD: Autosomal dominant disease DISPG5HC: Dyskeratosis congenita, autosomal dominant 2
Disease Identifiers	MONDO ID MONDO_0013521 UMLS CUI C3151443 OMIM ID 613989 MedGen ID 462793

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TERT	TTQY2EJ	Strong	Biomarker	[1]
TERT	TTQY2EJ	Definitive	Semidominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TERT	OT085VVA	Definitive	Semidominant	[2]
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References

1	The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.