Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
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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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Rare eye diseases

Rare otorhinolaryngological diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 612674

Disease Ontology ¹² DOID:0080181

Orphanet ⁵⁹ ORPHA171848

UMLS via Orphanet ⁷⁴ C2675204

MedGen ⁴² C2675204

MeSH ⁴⁴ D001259 D002386 D006319 more

KEGG ³⁷ H01115

UMLS ⁷³ C2675204

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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

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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
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:

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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 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

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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

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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

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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

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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 )	Criscuolo C....Filla A.	2013

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

Genes related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ABHD12	Abhydrolase Domain Containing 12	Protein Coding	1428.35	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Summaries Proteins Variants (show sections)	20797687 24697911

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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

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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.

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

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

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