MCID: PLY052
MIFTS: 26

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Metabolic diseases, Fetal 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:

Name: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 53 71 36 28 13 69
Pharc Syndrome 12 55
Pharc 53 71
Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome 55
Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 12
Peripheral Neuropathy, Fiskerstrand Type 55

Characteristics:

Orphanet epidemiological data:

55
polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
slowly progressive
onset in childhood or second decade


HPO:

31
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract:
Onset and clinical course phenotypic variability slow progression onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

UniProtKB/Swiss-Prot : 71 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 nystagmus, spasticity and dysarthria. An important gene associated with Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract is ABHD12 (Abhydrolase Domain Containing 12). Affiliated tissues include eye.

Disease Ontology : 12 An autosomal recessive disease that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.

Description from OMIM: 612674

Related Diseases for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

Diseases related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10.2
2 ataxia and polyneuropathy, adult-onset 10.2
3 leber congenital amaurosis 4 10.2
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
5 cataract 10.2
6 polyneuropathy 10.2
7 retinitis 10.2

Graphical network of the top 20 diseases related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:



Diseases related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract

Symptoms & Phenotypes for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
hyperreflexia
dysmetria
more
Skeletal Feet:
pes cavus
achilles tendon contracture

Head And Neck Ears:
hearing loss, sensorineural

Laboratory Abnormalities:
normal serum phytanic and pristanic acid

Head And Neck Eyes:
nystagmus
optic atrophy
retinitis pigmentosa
subcapsular cataracts

Neurologic Peripheral Nervous System:
hyporeflexia
distal sensory loss
demyelinating neuropathy
sensorimotor peripheral neuropathy
decreased nerve conduction velocities

Muscle Soft Tissue:
distal muscle atrophy due to neurologic disease


Clinical features from OMIM:

612674

Human phenotypes related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 spasticity 31 HP:0001257
3 dysarthria 31 HP:0001260
4 hyperreflexia 31 HP:0001347
5 sensorineural hearing impairment 31 HP:0000407
6 optic atrophy 31 HP:0000648
7 decreased nerve conduction velocity 31 HP:0000762
8 babinski sign 31 HP:0003487
9 dysmetria 31 HP:0001310
10 pes cavus 31 HP:0001761
11 intention tremor 31 HP:0002080
12 hyporeflexia 31 HP:0001265
13 cerebellar atrophy 31 HP:0001272
14 sensorimotor neuropathy 31 HP:0007141
15 rod-cone dystrophy 31 HP:0000510
16 polyneuropathy 31 HP:0001271
17 distal sensory impairment 31 HP:0002936
18 distal amyotrophy 31 HP:0003693
19 subcapsular cataract 31 HP:0000523
20 achilles tendon contracture 31 HP:0001771

UMLS symptoms related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:


action tremor, muscle spasticity, ataxia

Drugs & Therapeutics for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

Search Clinical Trials , NIH Clinical Center for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract

Genetic Tests for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

Genetic tests related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:

# Genetic test Affiliating Genes
1 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 28 ABHD12

Anatomical Context for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

MalaCards organs/tissues related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:

38
Eye

Publications for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

Articles related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:

# Title Authors Year
1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population. ( 23490117 )
2013

Variations for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

ClinVar genetic disease variations for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABHD12 NM_001042472.2(ABHD12): c.337_338delGAinsTTT (p.Asp113Phefs) indel Pathogenic rs387906217 GRCh37 Chromosome 20, 25304045: 25304046
2 ABHD12 NM_015600.4(ABHD12): c.-6898_191+7002delinsCC indel Pathogenic GRCh37 Chromosome 20, 25364147: 25378237
3 ABHD12 NM_015600.4(ABHD12): c.846_852dupTAAGAGC (p.His285Terfs) duplication Pathogenic rs397704714 GRCh37 Chromosome 20, 25288617: 25288623
4 ABHD12 NM_015600.4(ABHD12): c.1054C> T (p.Arg352Ter) single nucleotide variant Pathogenic rs267606624 GRCh37 Chromosome 20, 25282958: 25282958
5 ABHD12 NM_015600.4(ABHD12): c.1116C> G (p.His372Gln) single nucleotide variant Pathogenic rs587777602 GRCh37 Chromosome 20, 25282896: 25282896
6 ABHD12 NM_015600.4(ABHD12): c.477G> A (p.Trp159Ter) single nucleotide variant Pathogenic rs587777603 GRCh37 Chromosome 20, 25300900: 25300900
7 ABHD12 NM_015600.4(ABHD12): c.557G> C (p.Arg186Pro) single nucleotide variant Pathogenic rs587777604 GRCh37 Chromosome 20, 25297700: 25297700
8 ABHD12 NC_000020.10: g.25364310_25378180del13871 deletion Pathogenic GRCh37 Chromosome 20, 25364310: 25378180
9 ABHD12 NM_001042472.2(ABHD12): c.971C> T (p.Pro324Leu) single nucleotide variant Likely pathogenic rs886039872 GRCh38 Chromosome 20, 25303608: 25303608

Expression for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

Search GEO for disease gene expression data for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract.

Pathways for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

GO Terms for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

Sources for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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