Details of Disease

General Information of Disease (ID: DISS84LS)

Disease Name Dyskeratosis congenita, autosomal recessive 6
Synonyms
autosomal recessive dyskeratosis congenita 6; dyskeratosis congenita caused by mutation in PARN; PARN dyskeratosis congenita; dyskeratosis congenita, autosomal recessive 6; DKCB6; dyskeratosis congenita, autosomal recessive type 6
Definition Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene.
Disease Hierarchy
DISSXV0K: Dyskeratosis congenita
DISS84LS: Dyskeratosis congenita, autosomal recessive 6
Disease Identifiers
MONDO ID
MONDO_0014600
UMLS CUI
C4225356
OMIM ID
616353
MedGen ID
905452

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DKC1 OTX7DJR6 moderate Biomarker [1]
PARN OTTG4PE3 Definitive Autosomal recessive [2]
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References

1 X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.Am J Hum Genet. 1999 Jul;65(1):50-8. doi: 10.1086/302446.
2 Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. J Clin Invest. 2015 May;125(5):2151-60. doi: 10.1172/JCI78963. Epub 2015 Apr 20.