Details of Disease | DrugMAP

General Information of Disease (ID: DIS7JDC9)

Disease Name	Dyskeratosis congenita, autosomal dominant 6
Synonyms	dyskeratosis congenita, autosomal recessive 7; autosomal dominant dyskeratosis congenita 6; dyskeratosis congenita, autosomal dominant 6; dyskeratosis congenita, autosomal dominant type 6; DKCA6
Definition	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.
Disease Hierarchy	DISSXV0K: Dyskeratosis congenita DIS9XD9A: Hematologic disease DIS3HIWD: Autosomal dominant disease DIS7JDC9: Dyskeratosis congenita, autosomal dominant 6
Disease Identifiers	MONDO ID MONDO_0014690 UMLS CUI C4225284 OMIM ID 616553 MedGen ID 904824

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
ACD	OTC54EPO	Strong	Autosomal dominant	[1]
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References

1	Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood. 2014 Oct 30;124(18):2767-74. doi: 10.1182/blood-2014-08-596445. Epub 2014 Sep 9.