Details of Disease | DrugMAP

General Information of Disease (ID: DISO63ZJ)

Disease Name	Dyskeratosis congenita, autosomal recessive 1
Synonyms	autosomal recessive dyskeratosis congenita; dyskeratosis congenita autosomal recessive; DKCB; autosomal recessive dyskeratosis congenita 1; DKCB1; dyskeratosis congenita, autosomal recessive type 1; dyskeratosis congenita, autosomal recessive 1
Definition	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.
Disease Hierarchy	DISSXV0K: Dyskeratosis congenita DISO63ZJ: Dyskeratosis congenita, autosomal recessive 1
Disease Identifiers	MONDO ID MONDO_0009136 UMLS CUI C1857144 OMIM ID 224230 MedGen ID 341705

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
NOP10	OT1MVO2F	Strong	Autosomal recessive	[1]
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References

1	Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet. 2007 Jul 1;16(13):1619-29. doi: 10.1093/hmg/ddm111. Epub 2007 May 16.