Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

doi:10.1016/j.ajhg.2010.08.002

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Article

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

American journal of human genetics - 10 Sept 2010

Fiskerstrand Torunn, H'mida-Ben Brahim Dorra, Johansson Stefan, M'zahem Abderrahim, Haukanes Bjørn Ivar, Drouot Nathalie, Zimmermann Julian, Cole Andrew J, Vedeler Christian, Bredrup Cecilie, Assoum Mirna, Tazir Meriem, Klockgether Thomas, Hamri Abdelmadjid, Steen Vidar M, Boman Helge, Bindoff Laurence A, Koenig Michel, Knappskog Per M

Abstract excerpt

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems, including demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Previously, we mapped this Refsum-like disorder to a 16 Mb region on chromosome 20. Here...

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Identifiers

PMID: 20797687
DOI: 10.1016/j.ajhg.2010.08.002
PMCID: PMC2933347

Genes

ABHD12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Related research

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Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.PMID 20797687Read ↗

PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.Semantic proximity Read ↗

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.Semantic proximity Read ↗

PHARC syndrome: an overview.Semantic proximity Read ↗

The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.Semantic proximity Read ↗

ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC.Semantic proximity Read ↗

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.Semantic proximity Read ↗

Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.Semantic proximity Read ↗

Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay.Semantic proximity Read ↗

Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.Semantic proximity Read ↗

Deficiency in endocannabinoid synthase <i>DAGLB</i> contributes to Parkinson’s disease and dopaminergic neuron dysfunctionSemantic proximity Read ↗

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.Semantic proximity Read ↗

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.Semantic proximity Read ↗

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