Details of Disease

General Information of Disease (ID: DISNXFKB)

Disease Name Retinitis pigmentosa 73
Synonyms retinitis pigmentosa 73; retinitis pigmentosa caused by mutation in HGSNAT; HGSNAT retinitis pigmentosa; RP73; retinitis pigmentosa type 73
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISNXFKB: Retinitis pigmentosa 73
Disease Identifiers
MONDO ID
MONDO_0014687
UMLS CUI
C4225287
OMIM ID
616544
MedGen ID
907690

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
HGSNAT OTXPCELL Strong Autosomal recessive [1]
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References

1 Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). Hum Mol Genet. 2015 Jul 1;24(13):3742-51. doi: 10.1093/hmg/ddv118. Epub 2015 Apr 9.