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Disease Report for: PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

Alternative name(s)|
Mutation|18 mutations (e.g. : 14kbdel_human-ABHD12, 59kbdel_human-ABHD12, D113FX15_human-ABHD12... more)
OMIM: |612674, 613599

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease. Patients present early-onset cataract and hearing loss, retinitis pigmentosa. Both the central and peripheral nervous systems are affected. Other features are demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Fiskerstrand et al. identified the disease in a norwegian family. Mutations in ABHD12 cause the PHARC. Polyneuropathy and ataxia can be mild and symptomes can be close to those of Usher syndrome type 3 as shown by Eisenberg et al.

    Title: Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome
    Thimm A, Rahal A, Schoen U, Abicht A, Klebe S, Kleinschnitz C, Hagenacker T, Stettner M
    Ref: J Peripher Nerv Syst, :, 2020 : PubMed


    Title: A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review
    Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W and Ling J <8 more author(s)>
    Ref: Gene, 704:113, 2019 : PubMed


    Title: Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene
    Frasquet M, Lupo V, Chumillas MJ, Vazquez-Costa JF, Espinos C, Sevilla T
    Ref: Journal of Neurology Sci, 387:134, 2018 : PubMed


    Title: Comprehensive Molecular Screening in Chinese Usher Syndrome Patients
    Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
    Ref: Invest Ophthalmol Vis Sci, 59:1229, 2018 : PubMed


    Title: A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature
    Lerat J, Cintas P, Beauvais-Dzugan H, Magdelaine C, Sturtz F, Lia AS
    Ref: J Peripher Nerv Syst, 22:77, 2017 : PubMed


    Title: Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
    Tingaud-Sequeira A, Raldua D, Lavie J, Mathieu G, Bordier M, Knoll-Gellida A, Rambeau P, Coupry I, Andre M and Babin PJ <8 more author(s)>
    Ref: Neurobiol Dis, 98:36, 2017 : PubMed


    Title: Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness
    Yoshimura H, Hashimoto T, Murata T, Fukushima K, Sugaya A, Nishio SY, Usami S
    Ref: Ann Otol Rhinol Laryngol, 124 Suppl 1:77S, 2015 : PubMed


    Title: Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration
    Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Perez-Carro R, Martin-Garrido E, Lopez-Molina MI, Blanco-Kelly F, Hoefsloot LH and Ayuso C <12 more author(s)>
    Ref: Ophthalmology, 121:1620, 2014 : PubMed


    Title: Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects
    Chen DH, Naydenov A, Blankman JL, Mefford HC, Davis M, Sul Y, Barloon AS, Bonkowski E, Wolff J and Bird TD <6 more author(s)>
    Ref: Hum Mutat, 34:1672, 2013 : PubMed


    Title: 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
    Eisenberger T, Slim R, Mansour A, Nauck M, Nurnberg G, Nurnberg P, Decker C, Dafinger C, Ebermann I and Bolz H <1 more author(s)>
    Ref: Orphanet J Rare Dis, 7:59, 2012 : PubMed


    Title: Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism
    Fiskerstrand T, H'Mida-Ben Brahim D, Johansson S, M'Zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C and Knappskog PM <9 more author(s)>
    Ref: American Journal of Human Genetics, 87:410, 2010 : PubMed


    Title: A novel Refsum-like disorder that maps to chromosome 20
    Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA
    Ref: Neurology, 72:20, 2009 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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