PHARC
MCID: PLY052
MIFTS: 44
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
|
|
Aliases & Classifications for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...
MalaCards integrated aliases for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:
Characteristics:Orphanet epidemiological data:58
polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
variable phenotype slowly progressive onset in childhood or second decade HPO:31
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract:
Inheritance autosomal recessive inheritance Onset and clinical course onset slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Ear diseases
ICD10:
33
Orphanet: 58
![]() ![]() ![]() ![]() ![]() |
UniProtKB/Swiss-Prot :
73
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract: A slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses.
MalaCards based summary : Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract, also known as pharc syndrome, is related to retinitis pigmentosa and ataxia and polyneuropathy, adult-onset, and has symptoms including ataxia, action tremor and muscle spasticity. An important gene associated with Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract is ABHD12 (Abhydrolase Domain Containing 12, Lysophospholipase), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include eye and brain, and related phenotypes are sensorineural hearing impairment and optic atrophy Disease Ontology : 12 A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. KEGG : 36 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a progressive, autosomal-recessive, 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. Mutations in the ABHD12 gene cause PHARC disease.
More information from OMIM:
612674
|
Symptoms & Phenotypes for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...
Human phenotypes related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:31 (show all 21)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:612674UMLS symptoms related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:ataxia, action tremor, muscle spasticity MGI Mouse Phenotypes related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:45
|
|
MalaCards organs/tissues related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:40
Eye,
Brain
|
Articles related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:(show all 13)
|
ClinVar genetic disease variations for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:6 (show top 50) (show all 64)
UniProtKB/Swiss-Prot genetic disease variations for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:73
|
Search
GEO
for disease gene expression data for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract.
|
Pathways related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract according to GeneCards Suite gene sharing:
|
Cellular components related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract according to GeneCards Suite gene sharing:
Biological processes related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract according to GeneCards Suite gene sharing:
Molecular functions related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract according to GeneCards Suite gene sharing:
|
|