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

PHARC MCID: PLY052 MIFTS: 42	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 ¹⁵

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, 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 polyneuropathy and retinitis pigmentosa, 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), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include eye, and related phenotypes are nystagmus and ataxia

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:

(show all 22)

#	Related Disease	Score	Top Affiliating Genes
1	polyneuropathy	30.5	ABHD12 MBP PNPLA6
2	retinitis pigmentosa	10.3
3	leber congenital amaurosis 4	10.3
4	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
5	retinitis	10.3
6	spastic paraplegia 28, autosomal recessive	10.2	DDHD1 DDHD2
7	spastic paraplegia 56, autosomal recessive	10.2	CYP2U1 DDHD2
8	spastic paraplegia 54, autosomal recessive	10.1	CYP2U1 DDHD1 DDHD2
9	short-rib thoracic dysplasia 6 with or without polydactyly	10.1	CYP2U1 DDHD1 PTDSS1
10	spastic paraplegia 15, autosomal recessive	10.0	CYP2U1 DDHD2 FA2H
11	spastic paraplegia 35, autosomal recessive	10.0	CYP2U1 DDHD2 FA2H
12	sengers syndrome	10.0	AGK DDHD1 PTDSS1 SERAC1
13	spinocerebellar ataxia, autosomal recessive 21	10.0	FA2H PNPLA6
14	retinitis pigmentosa-deafness syndrome	10.0
15	usher syndrome	10.0
16	spastic paraplegia 73, autosomal dominant	10.0	FA2H PNPLA6
17	neuroaxonal dystrophy	10.0	FA2H MBP
18	paraplegia	9.9	DDHD1 DDHD2 FA2H PNPLA6
19	spastic paraplegia 76, autosomal recessive	9.9	FA2H PNPLA6
20	anterior spinal artery syndrome	9.9	HSPB1 MBP
21	hereditary spastic paraplegia	9.9	CYP2U1 DDHD1 DDHD2 FA2H PNPLA6
22	sjogren-larsson syndrome	9.6	ALDH3A2 FA2H LPIN1 PNPLA6 TAZ

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

UMLS 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:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.85	ABHD12 ALDH3A2 CHKB CNR1 DDHD2 DGKE
2	homeostasis/metabolism	MP:0005376	9.77	ABHD12 ALDH3A2 CHKB CNR1 DDHD1 DDHD2
3	nervous system	MP:0003631	9.36	ABHD12 ALDH3A2 CHKB CNR1 DDHD2 DGKE

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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	Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. ( 29571850 )	Frasquet M...Sevilla T	2018
2	A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature. ( 28448692 )	Lerat J....Lia A.S.	2017

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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):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ABHD12	Abhydrolase Domain Containing 12	Protein Coding	1411.68	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Proteins Variants (show sections)	20797687 24697911
2	DDHD1	DDHD Domain Containing 1	Protein Coding	16.36	DISEASES inferred ¹⁵
3	PTDSS1	Phosphatidylserine Synthase 1	Protein Coding	16.28	DISEASES inferred ¹⁵
4	CYP2U1	Cytochrome P450 Family 2 Subfamily U Member 1	Protein Coding	16.25	DISEASES inferred ¹⁵
5	DDHD2	DDHD Domain Containing 2	Protein Coding	16.21	DISEASES inferred ¹⁵
6	DGKE	Diacylglycerol Kinase Epsilon	Protein Coding	15.95	DISEASES inferred ¹⁵
7	SERAC1	Serine Active Site Containing 1	Protein Coding	15.85	DISEASES inferred ¹⁵
8	PNPLA6	Patatin Like Phospholipase Domain Containing 6	Protein Coding	15.84	DISEASES inferred ¹⁵
9	CHKB	Choline Kinase Beta	Protein Coding	15.84	DISEASES inferred ¹⁵
10	AGK	Acylglycerol Kinase	Protein Coding	15.69	DISEASES inferred ¹⁵
11	PCYT1A	Phosphate Cytidylyltransferase 1, Choline, Alpha	Protein Coding	15.43	DISEASES inferred ¹⁵
12	ALDH3A2	Aldehyde Dehydrogenase 3 Family Member A2	Protein Coding	15.28	DISEASES inferred ¹⁵
13	LPIN1	Lipin 1	Protein Coding	15.14	DISEASES inferred ¹⁵
14	FA2H	Fatty Acid 2-Hydroxylase	Protein Coding	15.02	DISEASES inferred ¹⁵
15	TAZ	Tafazzin	Protein Coding	14.67	DISEASES inferred ¹⁵
16	HSPB1	Heat Shock Protein Family B (Small) Member 1	Protein Coding	13.94	DISEASES inferred ¹⁵
17	CNR1	Cannabinoid Receptor 1	Protein Coding	13.82	DISEASES inferred ¹⁵
18	MBP	Myelin Basic Protein	Protein Coding	13.35	DISEASES inferred ¹⁵

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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 89)

#	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_001042472.2(ABHD12): c.1045G> A (p.Ala349Thr)	single nucleotide variant	Benign/Likely benign	rs746748	GRCh37	Chromosome 20, 25282967: 25282967
10	ABHD12	NM_001042472.2(ABHD12): c.1045G> A (p.Ala349Thr)	single nucleotide variant	Benign/Likely benign	rs746748	GRCh38	Chromosome 20, 25302331: 25302331
11	ABHD12	NM_001042472.2(ABHD12): c.1068T> C (p.Asp356=)	single nucleotide variant	Benign	rs10966	GRCh37	Chromosome 20, 25282944: 25282944
12	ABHD12	NM_001042472.2(ABHD12): c.1068T> C (p.Asp356=)	single nucleotide variant	Benign	rs10966	GRCh38	Chromosome 20, 25302308: 25302308
13	ABHD12	NM_001042472.2(ABHD12): c.837C> T (p.Arg279=)	single nucleotide variant	Benign	rs6107027	GRCh37	Chromosome 20, 25288632: 25288632
14	ABHD12	NM_001042472.2(ABHD12): c.837C> T (p.Arg279=)	single nucleotide variant	Benign	rs6107027	GRCh38	Chromosome 20, 25307996: 25307996
15	ABHD12	NM_015600.4(ABHD12): c.1116C> G (p.His372Gln)	single nucleotide variant	Pathogenic	rs587777602	GRCh37	Chromosome 20, 25282896: 25282896
16	ABHD12	NM_015600.4(ABHD12): c.1116C> G (p.His372Gln)	single nucleotide variant	Pathogenic	rs587777602	GRCh38	Chromosome 20, 25302260: 25302260
17	ABHD12	NM_015600.4(ABHD12): c.477G> A (p.Trp159Ter)	single nucleotide variant	Pathogenic	rs587777603	GRCh37	Chromosome 20, 25300900: 25300900
18	ABHD12	NM_015600.4(ABHD12): c.477G> A (p.Trp159Ter)	single nucleotide variant	Pathogenic	rs587777603	GRCh38	Chromosome 20, 25320264: 25320264
19	ABHD12	NM_001042472.2(ABHD12): c.557G> C (p.Arg186Pro)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs587777604	GRCh37	Chromosome 20, 25297700: 25297700
20	ABHD12	NM_001042472.2(ABHD12): c.557G> C (p.Arg186Pro)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs587777604	GRCh38	Chromosome 20, 25317064: 25317064
21	ABHD12	NC_000020.10: g.25364310_25378180del13871	deletion	Pathogenic		GRCh37	Chromosome 20, 25364310: 25378180
22	ABHD12	NM_001042472.2(ABHD12): c.971C> T (p.Pro324Leu)	single nucleotide variant	Likely pathogenic	rs886039872	GRCh38	Chromosome 20, 25303608: 25303608
23	ABHD12	NM_001042472.2(ABHD12): c.971C> T (p.Pro324Leu)	single nucleotide variant	Likely pathogenic	rs886039872	GRCh37	Chromosome 20, 25284244: 25284244
24	ABHD12	NM_001042472.2(ABHD12): c.1041C> T (p.Ile347=)	single nucleotide variant	Uncertain significance	rs188888939	GRCh37	Chromosome 20, 25282971: 25282971
25	ABHD12	NM_001042472.2(ABHD12): c.1041C> T (p.Ile347=)	single nucleotide variant	Uncertain significance	rs188888939	GRCh38	Chromosome 20, 25302335: 25302335
26	ABHD12	NM_001042472.2(ABHD12): c.*148C> T	single nucleotide variant	Benign	rs1046073	GRCh38	Chromosome 20, 25300697: 25300697
27	ABHD12	NM_001042472.2(ABHD12): c.*148C> T	single nucleotide variant	Benign	rs1046073	GRCh37	Chromosome 20, 25281333: 25281333
28	ABHD12	NM_001042472.2(ABHD12): c.1176G> A (p.Ser392=)	single nucleotide variant	Likely benign	rs184232860	GRCh37	Chromosome 20, 25281502: 25281502
29	ABHD12	NM_001042472.2(ABHD12): c.1176G> A (p.Ser392=)	single nucleotide variant	Likely benign	rs184232860	GRCh38	Chromosome 20, 25300866: 25300866
30	ABHD12	NM_001042472.2(ABHD12): c.769C> T (p.Arg257Trp)	single nucleotide variant	Uncertain significance	rs41306784	GRCh37	Chromosome 20, 25289111: 25289111
31	ABHD12	NM_001042472.2(ABHD12): c.769C> T (p.Arg257Trp)	single nucleotide variant	Uncertain significance	rs41306784	GRCh38	Chromosome 20, 25308475: 25308475
32	ABHD12	NM_001042472.2(ABHD12): c.543-13T> C	single nucleotide variant	Uncertain significance	rs575339393	GRCh37	Chromosome 20, 25297727: 25297727
33	ABHD12	NM_001042472.2(ABHD12): c.543-13T> C	single nucleotide variant	Uncertain significance	rs575339393	GRCh38	Chromosome 20, 25317091: 25317091
34	ABHD12	NM_001042472.2(ABHD12): c.453C> T (p.Asn151=)	single nucleotide variant	Uncertain significance	rs375299452	GRCh37	Chromosome 20, 25300924: 25300924
35	ABHD12	NM_001042472.2(ABHD12): c.453C> T (p.Asn151=)	single nucleotide variant	Uncertain significance	rs375299452	GRCh38	Chromosome 20, 25320288: 25320288
36	ABHD12	NM_001042472.2(ABHD12): c.-40_-39insGGCGGAGGC	insertion	Benign	rs145380090	GRCh37	Chromosome 20, 25371378: 25371379
37	ABHD12	NM_001042472.2(ABHD12): c.-40_-39insGGCGGAGGC	insertion	Benign	rs145380090	GRCh38	Chromosome 20, 25390742: 25390743
38	ABHD12	NM_001042472.2(ABHD12): c.-260G> A	single nucleotide variant	Uncertain significance	rs886056566	GRCh37	Chromosome 20, 25371599: 25371599
39	ABHD12	NM_001042472.2(ABHD12): c.-260G> A	single nucleotide variant	Uncertain significance	rs886056566	GRCh38	Chromosome 20, 25390963: 25390963
40	ABHD12	NM_001042472.2(ABHD12): c.*377C> T	single nucleotide variant	Uncertain significance	rs886056562	GRCh38	Chromosome 20, 25300468: 25300468
41	ABHD12	NM_001042472.2(ABHD12): c.*377C> T	single nucleotide variant	Uncertain significance	rs886056562	GRCh37	Chromosome 20, 25281104: 25281104
42	ABHD12	NM_001042472.2(ABHD12): c.*321G> T	single nucleotide variant	Likely benign	rs534140287	GRCh38	Chromosome 20, 25300524: 25300524
43	ABHD12	NM_001042472.2(ABHD12): c.*321G> T	single nucleotide variant	Likely benign	rs534140287	GRCh37	Chromosome 20, 25281160: 25281160
44	ABHD12	NM_001042472.2(ABHD12): c.*297C> G	single nucleotide variant	Benign	rs11100	GRCh38	Chromosome 20, 25300548: 25300548
45	ABHD12	NM_001042472.2(ABHD12): c.*297C> G	single nucleotide variant	Benign	rs11100	GRCh37	Chromosome 20, 25281184: 25281184
46	ABHD12	NM_001042472.2(ABHD12): c.858A> C (p.Pro286=)	single nucleotide variant	Uncertain significance	rs372807311	GRCh37	Chromosome 20, 25288611: 25288611
47	ABHD12	NM_001042472.2(ABHD12): c.858A> C (p.Pro286=)	single nucleotide variant	Uncertain significance	rs372807311	GRCh38	Chromosome 20, 25307975: 25307975
48	ABHD12	NM_001042472.2(ABHD12): c.202G> A (p.Val68Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs11904930	GRCh37	Chromosome 20, 25319977: 25319977
49	ABHD12	NM_001042472.2(ABHD12): c.202G> A (p.Val68Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs11904930	GRCh38	Chromosome 20, 25339341: 25339341
50	ABHD12	NM_001042472.2(ABHD12): c.-44C> G	single nucleotide variant	Uncertain significance	rs373200654	GRCh37	Chromosome 20, 25371383: 25371383

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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...

Pathways related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolic pathways ³⁷ Metabolism of lipids and lipoproteins ⁶⁶	13.6	AGK ALDH3A2 CHKB CYP2U1 DDHD1 DDHD2
2	Glycerophospholipid biosynthesis ⁶⁶ Show member pathways Acyl chain remodeling of CL ⁶⁶ Acyl chain remodeling of DAG and TAG ⁶⁶ Acyl chain remodelling of PG ⁶⁶ Acyl chain remodelling of PI ⁶⁶ Choline catabolism ⁶⁶ choline degradation ¹ glycerol-3-phosphate shuttle ¹ Glycerophospholipid metabolism ³⁷ Hydrolysis of LPC ⁶⁶ Hydrolysis of LPE ⁶⁶ phosphatidylserine biosynthesis I ¹ phosphatidylserine biosynthesis II ¹ Phospholipid metabolism ⁶⁶ Phosphonate and phosphinate metabolism ³⁷ Synthesis of CL ⁶⁶ Synthesis of PE ⁶⁶ Synthesis of PG ⁶⁶ Synthesis of PI ⁶⁶ Synthesis of PS ⁶⁶	12.01	CHKB DDHD1 DDHD2 DGKE LPIN1 PCYT1A
3	Glycerolipid metabolism ³⁷	11.04	AGK ALDH3A2 DGKE LPIN1
4	Synthesis of PC ⁶⁶	10.94	CHKB LPIN1 PCYT1A
5	Effects of PIP2 hydrolysis ⁶⁶ Show member pathways Arachidonate production from DAG ⁶⁶	10.87	ABHD12 DGKE
6	Glycerophospholipid Biosynthetic Pathway ¹ Show member pathways Plasmalogen biosynthesis ⁶⁶	10.79	CHKB LPIN1 PTDSS1

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

Cellular components related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	9.83	ABHD12 AGK ALDH3A2 CNR1 CYP2U1 DDHD2
2	intracellular membrane-bounded organelle	GO:0043231	9.72	AGK ALDH3A2 CNR1 CYP2U1 FA2H
3	endoplasmic reticulum	GO:0005783	9.7	ALDH3A2 CYP2U1 FA2H LPIN1 PCYT1A PNPLA6
4	mitochondrial outer membrane	GO:0005741	9.54	AGK CNR1 LPIN1
5	organelle membrane	GO:0031090	9.43	ALDH3A2 CYP2U1 FA2H
6	endoplasmic reticulum membrane	GO:0005789	9.17	ALDH3A2 CYP2U1 FA2H LPIN1 PCYT1A PNPLA6

Biological processes related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	fatty acid metabolic process	GO:0006631	9.69	ALDH3A2 FA2H LPIN1
2	lipid catabolic process	GO:0016042	9.67	DDHD1 DDHD2 PNPLA6
3	phosphatidylethanolamine biosynthetic process	GO:0006646	9.48	CHKB LPIN1
4	positive regulation of mitochondrial fission	GO:0090141	9.46	DDHD1 DDHD2
5	lipid phosphorylation	GO:0046834	9.43	AGK DGKE
6	glycerolipid metabolic process	GO:0046486	9.4	AGK DGKE
7	glycerophospholipid catabolic process	GO:0046475	9.37	ABHD12 PNPLA6
8	phospholipid biosynthetic process	GO:0008654	9.35	CHKB DGKE PCYT1A PTDSS1 SERAC1
9	phosphatidylcholine biosynthetic process	GO:0006656	9.33	CHKB LPIN1 PCYT1A
10	glycerophospholipid biosynthetic process	GO:0046474	9.32	AGK CHKB
11	lipid metabolic process	GO:0006629	9.32	ALDH3A2 CHKB DDHD1 DDHD2 FA2H LPIN1
12	CDP-choline pathway	GO:0006657	9.26	CHKB PCYT1A

Molecular functions related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	lysophospholipase activity	GO:0004622	9.26	ABHD12 PNPLA6
2	NAD+ kinase activity	GO:0003951	9.16	AGK DGKE
3	phospholipase activity	GO:0004620	8.96	DDHD1 DDHD2
4	diacylglycerol kinase activity	GO:0004143	8.62	AGK DGKE

Sources

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC)

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:

OMIM:

HPO:

Classifications:

External Ids:

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

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:

Graphical network of the top 20 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:

Clinical features from OMIM:

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

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

MGI Mouse Phenotypes related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:

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

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

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

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

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

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

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

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

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

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

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

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

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

Pathways related to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract according to GeneCards Suite gene sharing:

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

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:

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