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 57 75 37 29 13 6 73
Pharc Syndrome 12 59
Pharc 57 75
Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome 59
Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract 6
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract 40
Peripheral Neuropathy, Fiskerstrand Type 59

Characteristics:

Orphanet epidemiological data:

59
polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 leber congenital amaurosis 4, and has symptoms including ataxia, muscle spasticity and action tremor. An important gene associated with Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract is ABHD12 (Abhydrolase Domain Containing 12). Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and rod-cone dystrophy

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 leber congenital amaurosis 4 10.2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 cataract 10.2
5 polyneuropathy 10.2
6 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:

57
Head And Neck Eyes:
nystagmus
optic atrophy
retinitis pigmentosa
subcapsular cataracts

Skeletal Feet:
pes cavus
achilles tendon contracture

Head And Neck Ears:
hearing loss, sensorineural

Laboratory Abnormalities:
normal serum phytanic and pristanic acid

Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
hyperreflexia
dysmetria
more
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:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 rod-cone dystrophy 32 HP:0000510
3 subcapsular cataract 32 HP:0000523
4 nystagmus 32 HP:0000639
5 optic atrophy 32 HP:0000648
6 decreased nerve conduction velocity 32 HP:0000762
7 ataxia 32 HP:0001251
8 spasticity 32 HP:0001257
9 dysarthria 32 HP:0001260
10 hyporeflexia 32 HP:0001265
11 polyneuropathy 32 HP:0001271
12 cerebellar atrophy 32 HP:0001272
13 dysmetria 32 HP:0001310
14 hyperreflexia 32 HP:0001347
15 pes cavus 32 HP:0001761
16 achilles tendon contracture 32 HP:0001771
17 intention tremor 32 HP:0002080
18 distal sensory impairment 32 HP:0002936
19 babinski sign 32 HP:0003487
20 distal amyotrophy 32 HP:0003693
21 sensorimotor neuropathy 32 HP:0007141

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


ataxia, muscle spasticity, action tremor

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 29 ABHD12

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

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

41
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
(show top 50) (show all 81)
# 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_001042472.2(ABHD12): c.337_338delGAinsTTT (p.Asp113Phefs) indel Pathogenic rs387906217 GRCh38 Chromosome 20, 25323409: 25323410
3 ABHD12 NM_015600.4(ABHD12): c.-6898_191+7002delinsCC indel Pathogenic GRCh37 Chromosome 20, 25364147: 25378237
4 ABHD12 NM_015600.4(ABHD12): c.-6898_191+7002delinsCC indel Pathogenic GRCh38 Chromosome 20, 25383511: 25397601
5 ABHD12 NM_015600.4(ABHD12): c.846_852dupTAAGAGC (p.His285Terfs) duplication Pathogenic rs397704714 GRCh37 Chromosome 20, 25288617: 25288623
6 ABHD12 NM_015600.4(ABHD12): c.846_852dupTAAGAGC (p.His285Terfs) duplication Pathogenic rs397704714 GRCh38 Chromosome 20, 25307981: 25307987
7 ABHD12 NM_015600.4(ABHD12): c.1054C> T (p.Arg352Ter) single nucleotide variant Pathogenic rs267606624 GRCh37 Chromosome 20, 25282958: 25282958
8 ABHD12 NM_015600.4(ABHD12): c.1054C> T (p.Arg352Ter) single nucleotide variant Pathogenic rs267606624 GRCh38 Chromosome 20, 25302322: 25302322
9 ABHD12 NM_015600.4(ABHD12): c.1116C> G (p.His372Gln) single nucleotide variant Pathogenic rs587777602 GRCh37 Chromosome 20, 25282896: 25282896
10 ABHD12 NM_015600.4(ABHD12): c.1116C> G (p.His372Gln) single nucleotide variant Pathogenic rs587777602 GRCh38 Chromosome 20, 25302260: 25302260
11 ABHD12 NM_015600.4(ABHD12): c.477G> A (p.Trp159Ter) single nucleotide variant Pathogenic rs587777603 GRCh37 Chromosome 20, 25300900: 25300900
12 ABHD12 NM_015600.4(ABHD12): c.477G> A (p.Trp159Ter) single nucleotide variant Pathogenic rs587777603 GRCh38 Chromosome 20, 25320264: 25320264
13 ABHD12 NM_015600.4(ABHD12): c.557G> C (p.Arg186Pro) single nucleotide variant Pathogenic rs587777604 GRCh37 Chromosome 20, 25297700: 25297700
14 ABHD12 NM_015600.4(ABHD12): c.557G> C (p.Arg186Pro) single nucleotide variant Pathogenic rs587777604 GRCh38 Chromosome 20, 25317064: 25317064
15 ABHD12 NC_000020.10: g.25364310_25378180del13871 deletion Pathogenic GRCh37 Chromosome 20, 25364310: 25378180
16 ABHD12 NM_001042472.2(ABHD12): c.971C> T (p.Pro324Leu) single nucleotide variant Likely pathogenic rs886039872 GRCh38 Chromosome 20, 25303608: 25303608
17 ABHD12 NM_001042472.2(ABHD12): c.971C> T (p.Pro324Leu) single nucleotide variant Likely pathogenic rs886039872 GRCh37 Chromosome 20, 25284244: 25284244
18 ABHD12 NM_001042472.2(ABHD12): c.1041C> T (p.Ile347=) single nucleotide variant Uncertain significance rs188888939 GRCh37 Chromosome 20, 25282971: 25282971
19 ABHD12 NM_001042472.2(ABHD12): c.1041C> T (p.Ile347=) single nucleotide variant Uncertain significance rs188888939 GRCh38 Chromosome 20, 25302335: 25302335
20 ABHD12 NM_001042472.2(ABHD12): c.*148C> T single nucleotide variant Benign rs1046073 GRCh38 Chromosome 20, 25300697: 25300697
21 ABHD12 NM_001042472.2(ABHD12): c.*148C> T single nucleotide variant Benign rs1046073 GRCh37 Chromosome 20, 25281333: 25281333
22 ABHD12 NM_001042472.2(ABHD12): c.1176G> A (p.Ser392=) single nucleotide variant Likely benign rs184232860 GRCh37 Chromosome 20, 25281502: 25281502
23 ABHD12 NM_001042472.2(ABHD12): c.1176G> A (p.Ser392=) single nucleotide variant Likely benign rs184232860 GRCh38 Chromosome 20, 25300866: 25300866
24 ABHD12 NM_001042472.2(ABHD12): c.769C> T (p.Arg257Trp) single nucleotide variant Uncertain significance rs41306784 GRCh37 Chromosome 20, 25289111: 25289111
25 ABHD12 NM_001042472.2(ABHD12): c.769C> T (p.Arg257Trp) single nucleotide variant Uncertain significance rs41306784 GRCh38 Chromosome 20, 25308475: 25308475
26 ABHD12 NM_001042472.2(ABHD12): c.543-13T> C single nucleotide variant Uncertain significance rs575339393 GRCh37 Chromosome 20, 25297727: 25297727
27 ABHD12 NM_001042472.2(ABHD12): c.543-13T> C single nucleotide variant Uncertain significance rs575339393 GRCh38 Chromosome 20, 25317091: 25317091
28 ABHD12 NM_001042472.2(ABHD12): c.453C> T (p.Asn151=) single nucleotide variant Uncertain significance rs375299452 GRCh37 Chromosome 20, 25300924: 25300924
29 ABHD12 NM_001042472.2(ABHD12): c.453C> T (p.Asn151=) single nucleotide variant Uncertain significance rs375299452 GRCh38 Chromosome 20, 25320288: 25320288
30 ABHD12 NM_001042472.2(ABHD12): c.-40_-39insGGCGGAGGC insertion Benign rs145380090 GRCh37 Chromosome 20, 25371378: 25371379
31 ABHD12 NM_001042472.2(ABHD12): c.-40_-39insGGCGGAGGC insertion Benign rs145380090 GRCh38 Chromosome 20, 25390742: 25390743
32 ABHD12 NM_001042472.2(ABHD12): c.-260G> A single nucleotide variant Uncertain significance rs886056566 GRCh37 Chromosome 20, 25371599: 25371599
33 ABHD12 NM_001042472.2(ABHD12): c.-260G> A single nucleotide variant Uncertain significance rs886056566 GRCh38 Chromosome 20, 25390963: 25390963
34 ABHD12 NM_001042472.2(ABHD12): c.*377C> T single nucleotide variant Uncertain significance rs886056562 GRCh38 Chromosome 20, 25300468: 25300468
35 ABHD12 NM_001042472.2(ABHD12): c.*377C> T single nucleotide variant Uncertain significance rs886056562 GRCh37 Chromosome 20, 25281104: 25281104
36 ABHD12 NM_001042472.2(ABHD12): c.*321G> T single nucleotide variant Likely benign rs534140287 GRCh38 Chromosome 20, 25300524: 25300524
37 ABHD12 NM_001042472.2(ABHD12): c.*321G> T single nucleotide variant Likely benign rs534140287 GRCh37 Chromosome 20, 25281160: 25281160
38 ABHD12 NM_001042472.2(ABHD12): c.*297C> G single nucleotide variant Benign rs11100 GRCh38 Chromosome 20, 25300548: 25300548
39 ABHD12 NM_001042472.2(ABHD12): c.*297C> G single nucleotide variant Benign rs11100 GRCh37 Chromosome 20, 25281184: 25281184
40 ABHD12 NM_001042472.2(ABHD12): c.858A> C (p.Pro286=) single nucleotide variant Uncertain significance rs372807311 GRCh37 Chromosome 20, 25288611: 25288611
41 ABHD12 NM_001042472.2(ABHD12): c.858A> C (p.Pro286=) single nucleotide variant Uncertain significance rs372807311 GRCh38 Chromosome 20, 25307975: 25307975
42 ABHD12 NM_001042472.2(ABHD12): c.202G> A (p.Val68Met) single nucleotide variant Conflicting interpretations of pathogenicity rs11904930 GRCh37 Chromosome 20, 25319977: 25319977
43 ABHD12 NM_001042472.2(ABHD12): c.202G> A (p.Val68Met) single nucleotide variant Conflicting interpretations of pathogenicity rs11904930 GRCh38 Chromosome 20, 25339341: 25339341
44 ABHD12 NM_001042472.2(ABHD12): c.-44C> G single nucleotide variant Uncertain significance rs373200654 GRCh37 Chromosome 20, 25371383: 25371383
45 ABHD12 NM_001042472.2(ABHD12): c.-44C> G single nucleotide variant Uncertain significance rs373200654 GRCh38 Chromosome 20, 25390747: 25390747
46 ABHD12 NM_001042472.2(ABHD12): c.-82_-76delTCTGGGT deletion Uncertain significance rs886056564 GRCh37 Chromosome 20, 25371415: 25371421
47 ABHD12 NM_001042472.2(ABHD12): c.-82_-76delTCTGGGT deletion Uncertain significance rs886056564 GRCh38 Chromosome 20, 25390779: 25390785
48 ABHD12 NM_001042472.2(ABHD12): c.-221G> A single nucleotide variant Uncertain significance rs879795178 GRCh37 Chromosome 20, 25371560: 25371560
49 ABHD12 NM_001042472.2(ABHD12): c.-221G> A single nucleotide variant Uncertain significance rs879795178 GRCh38 Chromosome 20, 25390924: 25390924
50 ABHD12 NM_001042472.2(ABHD12): c.*454G> A single nucleotide variant Likely benign rs41309917 GRCh38 Chromosome 20, 25300391: 25300391

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...

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