Details of Disease | DrugMAP

General Information of Disease (ID: DISM1J6X)

Disease Name	Dyskeratosis congenita, autosomal recessive 2
Synonyms	autosomal recessive dyskeratosis congenita 2; dyskeratosis congenita, autosomal recessive type 2; DKCB2; dyskeratosis congenita, autosomal recessive 2
Definition	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISSXV0K: Dyskeratosis congenita DISM1J6X: Dyskeratosis congenita, autosomal recessive 2
Disease Identifiers	MONDO ID MONDO_0013519 UMLS CUI C3151441 OMIM ID 613987 MedGen ID 462791

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
NHP2	OTZK4FU5	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8073-8. doi: 10.1073/pnas.0800042105. Epub 2008 Jun 3.