Top ▲

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)

Disease ID:1265
Name:Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)
Associated with:1 target
Description
PHARC is caused by homozygous or compound heterozygous mutation in the ABHD12 gene
Database Links
OMIM: 612674

Targets

αβ-Hydrolase 12
References:  1-5

Ligands

No ligand related data available for Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)

References

Show »

1. Blankman JL, Long JZ, Trauger SA, Siuzdak G, Cravatt BF. (2013) ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC. Proc. Natl. Acad. Sci. U.S.A., 110 (4): 1500-5. [PMID:23297193]

2. Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C et al.. (2010) Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am. J. Hum. Genet., 87 (3): 410-7. [PMID:20797687]

3. Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA. (2009) A novel Refsum-like disorder that maps to chromosome 20. Neurology, 72 (1): 20-7. [PMID:19005174]

4. Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA et al.. (2014) Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology, 121 (8): 1620-7. [PMID:24697911]

5. Tingaud-Sequeira A, Raldúa D, Lavie J, Mathieu G, Bordier M, Knoll-Gellida A, Rambeau P, Coupry I, André M, Malm E et al.. (2017) Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. Neurobiol. Dis., 98: 36-51. [PMID:27890673]