Details of Disease | DrugMAP

General Information of Disease (ID: DISU4IBC)

Disease Name	PHARC syndrome
Synonyms	PHARC; polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome; polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; peripheral neuropathy, Fiskerstrand type; PHARC syndrome
Definition	Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DISPGGVL: Syndromic dyslipidemia DISCPWH9: Autosomal recessive disease DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis DISU4IBC: PHARC syndrome
Disease Identifiers	MONDO ID MONDO_0012984 MESH ID C567203 UMLS CUI C2675204 OMIM ID 612674 MedGen ID 436373 Orphanet ID 171848

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
ABHD12	OTDP4F02	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.