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Article

PHARC syndrome: an overview.

Orphanet journal of rare diseases - 5 Nov 2024

Harutyunyan Lusine, Callaerts Patrick, Vermeer Sascha

Abstract excerpt

PHARC, polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and cataracts, or PHARC is a very rare progressive neurodegenerative autosomal recessive disease caused by biallelic mutations in the ABHD12 (a/b-hydrolase domain containing 12) gene, which encodes a lyso-phosphatidylserine (lyso-PS) lipase. The Orpha number for PHARC is ORPHA171848. The clinical picture of PHARC syndrome is very...

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Source

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Identifiers

PMID: 39501272
DOI: 10.1186/s13023-024-03418-0
PMCID: PMC11539745

Genes

ABHD12
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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PHARC syndrome: an overview.PMID 39501272Read ↗

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

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

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

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.Semantic proximity Read ↗

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

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

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

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

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.Semantic proximity Read ↗

Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.Semantic proximity Read ↗

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

Bioinformatics analysis identifies sequence determinants of enzymatic activity for the PHARC associated lipase ABHD12Semantic proximity Read ↗

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