Details of Disease

General Information of Disease (ID: DIS5C4LU)

Disease Name Retinitis pigmentosa 59
Synonyms
congenital disorder of glycosylation, type Ibb; RP59; DHDDS retinitis pigmentosa; retinitis pigmentosa caused by mutation in DHDDS; retinitis pigmentosa type 59; congenital disorder of glycosylation, type 1bb; retinitis pigmentosa 59
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS5C4LU: Retinitis pigmentosa 59
Disease Identifiers
MONDO ID
MONDO_0013468
UMLS CUI
C3151227
OMIM ID
613861
MedGen ID
462577

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
DHDDS OTVLYBUS Definitive Autosomal recessive [1]
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References

1 Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet. 2011 Feb 11;88(2):201-6. doi: 10.1016/j.ajhg.2011.01.001. Epub 2011 Feb 3.