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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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

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MalaCards integrated aliases for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:

Name: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 56 73 36 29 13 6 71
Pharc Syndrome 12 58 15
Pharc 56 73
Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome 58
Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 12
Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome 58
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract 39
Peripheral Neuropathy, Fiskerstrand Type 58

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
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


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

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

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10.3
2 ataxia and polyneuropathy, adult-onset 10.3
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
4 neuroretinitis 10.3
5 polyneuropathy 10.3
6 retinitis 10.3
7 cataract 10.3
8 demyelinating polyneuropathy 10.3
9 retinitis pigmentosa-deafness syndrome 10.2
10 usher syndrome 10.2
11 autosomal recessive disease 10.2
12 hereditary ataxia 10.2
13 neuropathy 10.2
14 refsum disease, classic 10.1
15 yemenite deaf-blind hypopigmentation syndrome 10.1
16 charcot-marie-tooth disease 10.1
17 tooth disease 10.1
18 peripheral nervous system disease 10.1
19 rare neurodegenerative disease 10.1
20 spastic paraplegia 55, autosomal recessive 10.0 DDHD1 CYP2U1
21 gordon holmes syndrome 9.9 PNPLA6 ABHD12
22 spastic paraplegia 35, autosomal recessive 9.9 PNPLA6 DDHD2
23 spastic paraplegia 48, autosomal recessive 9.9 DDHD2 CYP2U1
24 sengers syndrome 9.8 SERAC1 DDHD1
25 spastic paraplegia 73, autosomal dominant 9.8 PNPLA6 DDHD2 DDHD1
26 spastic paraplegia 49, autosomal recessive 9.7 DDHD2 DDHD1 CYP2U1
27 spastic paraplegia 39, autosomal recessive 9.7 PNPLA6 DDHD2 DDHD1
28 spastic paraplegia 46, autosomal recessive 9.7 PNPLA6 DDHD2 CYP2U1
29 spastic paraplegia 56, autosomal recessive 9.7 DDHD2 DDHD1 CYP2U1
30 spastic ataxia 9.6 PNPLA6 DDHD2
31 spastic paraplegia 28, autosomal recessive 9.5 PNPLA6 DDHD2 DDHD1 CYP2U1
32 paraplegia 9.5 PNPLA6 DDHD2 DDHD1 CYP2U1
33 spastic paraplegia 54, autosomal recessive 9.5 PNPLA6 DDHD2 DDHD1 CYP2U1
34 hereditary spastic paraplegia 9.4 PNPLA6 DDHD2 DDHD1 CYP2U1
35 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 9.1 SERAC1 DDHD2 DDHD1 CHKB
36 lenz-majewski hyperostotic dwarfism 8.9 PTDSS1 DDHD2 DDHD1 CYP2U1 CHKB

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

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

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 optic atrophy 31 HP:0000648
3 spasticity 31 HP:0001257
4 ataxia 31 HP:0001251
5 nystagmus 31 HP:0000639
6 decreased nerve conduction velocity 31 HP:0000762
7 hyperreflexia 31 HP:0001347
8 achilles tendon contracture 31 HP:0001771
9 dysarthria 31 HP:0001260
10 dysmetria 31 HP:0001310
11 pes cavus 31 HP:0001761
12 hyporeflexia 31 HP:0001265
13 rod-cone dystrophy 31 HP:0000510
14 babinski sign 31 HP:0003487
15 cerebellar atrophy 31 HP:0001272
16 distal amyotrophy 31 HP:0003693
17 polyneuropathy 31 HP:0001271
18 intention tremor 31 HP:0002080
19 distal sensory impairment 31 HP:0002936
20 sensorimotor neuropathy 31 HP:0007141
21 subcapsular cataract 31 HP:0000523

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy
nystagmus
retinitis pigmentosa
subcapsular cataracts

Skeletal Feet:
achilles tendon contracture
pes cavus

Head And Neck Ears:
hearing loss, sensorineural

Laboratory Abnormalities:
normal serum phytanic and pristanic acid

Neurologic Central Nervous System:
spasticity
ataxia
hyperreflexia
dysarthria
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

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 ABHD12 ABHD6 CHKB CYP2U1 DDHD2 DGKE
2 homeostasis/metabolism MP:0005376 9.23 ABHD12 ABHD6 CHKB DDHD1 DDHD2 DGKE
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Drugs & Therapeutics for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

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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...

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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...

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

40
Eye, Brain
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Publications for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

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

(show all 13)
# Title Authors PMID Year
1
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 56 6 61
24697911 2014
2
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. 56 6 61
20797687 2010
3
A novel Refsum-like disorder that maps to chromosome 20. 56
19005174 2009
4
Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome. 61
32077159 2020
5
Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC. 61
32462874 2020
6
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. 61
30974196 2019
7
Elevated Levels of Arachidonic Acid-Derived Lipids Including Prostaglandins and Endocannabinoids Are Present Throughout ABHD12 Knockout Brains: Novel Insights Into the Neurodegenerative Phenotype. 61
31213981 2019
8
Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids. 61
30237167 2018
9
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 61
29571850 2018
10
A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature. 61
28448692 2017
11
Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay. 61
25580854 2015
12
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. 61
25178427 2015
13
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. 61
22814679 2013
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Variations for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

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

6 (show top 50) (show all 64) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABHD12 NM_001042472.3(ABHD12):c.249C>G (p.Tyr83Ter)SNV Pathogenic 518455 rs1303044966 20:25319930-25319930 20:25339294-25339294
2 ABHD12 NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs)indel Pathogenic 24 rs1555813914 20:25304045-25304046 20:25323409-25323410
3 ABHD12 NM_015600.4(ABHD12):c.-6898_191+7002delinsCCindel Pathogenic 25 20:25364147-25378237 20:25383511-25397601
4 ABHD12 NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter)duplication Pathogenic 26 rs397704714 20:25288616-25288617 20:25307980-25307981
5 ABHD12 NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter)SNV Pathogenic 27 rs267606624 20:25282958-25282958 20:25302322-25302322
6 ABHD12 NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs)deletion Pathogenic 430695 rs1555817157 20:25319956-25319968 20:25339320-25339332
7 ABHD12 NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln)SNV Pathogenic 143235 rs587777602 20:25282896-25282896 20:25302260-25302260
8 ABHD12 NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter)SNV Pathogenic 143236 rs587777603 20:25300900-25300900 20:25320264-25320264
9 ABHD12 deletion Pathogenic 243081 20:25364310-25378180 20:25383675-25397545
10 ABHD12 NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter)SNV Pathogenic/Likely pathogenic 452247 rs776800006 20:25287545-25287545 20:25306909-25306909
11 ABHD12 NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu)SNV Likely pathogenic 265985 rs886039872 20:25284244-25284244 20:25303608-25303608
12 ABHD12 NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del)deletion Likely pathogenic 545443 rs1555810299 20:25282883-25282888 20:25302247-25302252
13 ABHD12 NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=)SNV Conflicting interpretations of pathogenicity 283186 rs188888939 20:25282971-25282971 20:25302335-25302335
14 ABHD12 NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro)SNV Conflicting interpretations of pathogenicity 143237 rs587777604 20:25297700-25297700 20:25317064-25317064
15 ABHD12 NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)SNV Conflicting interpretations of pathogenicity 337993 rs41306784 20:25289111-25289111 20:25308475-25308475
16 ABHD12 NM_001042472.3(ABHD12):c.543-13T>CSNV Uncertain significance 337994 rs575339393 20:25297727-25297727 20:25317091-25317091
17 ABHD12 NM_001042472.3(ABHD12):c.453C>T (p.Asn151=)SNV Uncertain significance 337995 rs375299452 20:25300924-25300924 20:25320288-25320288
18 ABHD12 NM_001042472.2(ABHD12):c.-260G>ASNV Uncertain significance 338006 rs886056566 20:25371599-25371599 20:25390963-25390963
19 ABHD12 NM_001042472.3(ABHD12):c.*377C>TSNV Uncertain significance 337982 rs886056562 20:25281104-25281104 20:25300468-25300468
20 ABHD12 NM_001042472.3(ABHD12):c.-44C>GSNV Uncertain significance 338000 rs373200654 20:25371383-25371383 20:25390747-25390747
21 ABHD12 NM_001042472.3(ABHD12):c.-82_-76deldeletion Uncertain significance 338001 rs886056564 20:25371415-25371421 20:25390779-25390785
22 ABHD12 NM_001042472.2(ABHD12):c.-221G>ASNV Uncertain significance 338005 rs879795178 20:25371560-25371560 20:25390924-25390924
23 ABHD12 NM_001042472.3(ABHD12):c.*414deldeletion Uncertain significance 337981 rs886056561 20:25281067-25281067 20:25300431-25300431
24 ABHD12 NM_001042472.3(ABHD12):c.*353G>ASNV Uncertain significance 337983 rs886056563 20:25281128-25281128 20:25300492-25300492
25 ABHD12 NM_001042472.3(ABHD12):c.203T>C (p.Val68Ala)SNV Uncertain significance 337997 rs140967031 20:25319976-25319976 20:25339340-25339340
26 ABHD12 NM_001042472.3(ABHD12):c.858A>C (p.Pro286=)SNV Uncertain significance 337991 rs372807311 20:25288611-25288611 20:25307975-25307975
27 ABHD12 NM_001042472.3(ABHD12):c.*45G>CSNV Uncertain significance 337989 rs200450758 20:25281436-25281436 20:25300800-25300800
28 ABHD12 NM_001042472.3(ABHD12):c.802G>T (p.Ala268Ser)SNV Uncertain significance 337992 rs186440319 20:25288667-25288667 20:25308031-25308031
29 ABHD12 NM_001042472.3(ABHD12):c.334A>T (p.Ile112Phe)SNV Uncertain significance 337996 rs376230028 20:25304049-25304049 20:25323413-25323413
30 ABHD12 NM_001042472.3(ABHD12):c.-118T>CSNV Uncertain significance 338003 rs886056565 20:25371457-25371457 20:25390821-25390821
31 ABHD12 NM_015600.5(ABHD12):c.1157+2023C>TSNV Uncertain significance 369354 rs527626109 20:25280832-25280832 20:25300196-25300196
32 ABHD12 NM_001042472.3(ABHD12):c.836G>A (p.Arg279His)SNV Uncertain significance 385607 rs180761451 20:25288633-25288633 20:25307997-25307997
33 ABHD12 NM_001042472.3(ABHD12):c.315C>T (p.Phe105=)SNV Uncertain significance 848451 20:25319864-25319864 20:25339228-25339228
34 ABHD12 NM_001042472.3(ABHD12):c.*331G>CSNV Uncertain significance 897493 20:25281150-25281150 20:25300514-25300514
35 ABHD12 NM_001042472.3(ABHD12):c.*331G>ASNV Uncertain significance 897494 20:25281150-25281150 20:25300514-25300514
36 ABHD12 NM_001042472.3(ABHD12):c.*177C>TSNV Uncertain significance 898648 20:25281304-25281304 20:25300668-25300668
37 ABHD12 NM_001042472.3(ABHD12):c.*149G>ASNV Uncertain significance 898649 20:25281332-25281332 20:25300696-25300696
38 ABHD12 NM_001042472.3(ABHD12):c.*22A>GSNV Uncertain significance 898650 20:25281459-25281459 20:25300823-25300823
39 ABHD12 NM_001042472.3(ABHD12):c.1044C>T (p.Ala348=)SNV Uncertain significance 895669 20:25282968-25282968 20:25302332-25302332
40 ABHD12 NM_001042472.3(ABHD12):c.960C>T (p.His320=)SNV Uncertain significance 895670 20:25284255-25284255 20:25303619-25303619
41 ABHD12 NM_001042472.3(ABHD12):c.875G>A (p.Arg292Gln)SNV Uncertain significance 895671 20:25287544-25287544 20:25306908-25306908
42 ABHD12 NM_001042472.3(ABHD12):c.792G>T (p.Thr264=)SNV Uncertain significance 897081 20:25288677-25288677 20:25308041-25308041
43 ABHD12 NM_001042472.3(ABHD12):c.718G>A (p.Val240Met)SNV Uncertain significance 897082 20:25290113-25290113 20:25309477-25309477
44 ABHD12 NM_001042472.3(ABHD12):c.250A>G (p.Ile84Val)SNV Uncertain significance 897558 20:25319929-25319929 20:25339293-25339293
45 ABHD12 NM_001042472.3(ABHD12):c.167C>T (p.Ala56Val)SNV Uncertain significance 897560 20:25371173-25371173 20:25390537-25390537
46 ABHD12 NM_001042472.3(ABHD12):c.137C>G (p.Ala46Gly)SNV Uncertain significance 898714 20:25371203-25371203 20:25390567-25390567
47 ABHD12 NM_001042472.3(ABHD12):c.26C>T (p.Ala9Val)SNV Uncertain significance 898715 20:25371314-25371314 20:25390678-25390678
48 ABHD12 NM_001042472.3(ABHD12):c.542+6G>ASNV Uncertain significance 897083 20:25300829-25300829 20:25320193-25320193
49 ABHD12 NM_001042472.3(ABHD12):c.191+15G>ASNV Uncertain significance 897559 20:25371134-25371134 20:25390498-25390498
50 ABHD12 NM_001042472.3(ABHD12):c.*320_*321deldeletion Likely benign 337984 rs58058232 20:25281160-25281161 20:25300524-25300525

UniProtKB/Swiss-Prot genetic disease variations for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract:

73
# Symbol AA change Variation ID SNP ID
1 ABHD12 p.Thr253Arg VAR_081591 rs772987424

Sources

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

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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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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 65
Show member pathways
 13.62 PTDSS1 PNPLA6 LPCAT4 DGKE DDHD2 DDHD1
2
Glycerophospholipid biosynthesis 65
Show member pathways
 11.9 PTDSS1 PNPLA6 LPCAT4 DGKE DDHD2 DDHD1
3
Acyl chain remodelling of PE 65
Show member pathways
 11.63 LPCAT4 DDHD2 DDHD1
4
Glycerophospholipid Biosynthetic Pathway 1
Show member pathways
 10.68 PTDSS1 CHKB
5
Effects of PIP2 hydrolysis 65
Show member pathways
 10.64 DGKE ABHD6 ABHD12
6
triacylglycerol degradation 1
10.2 ABHD6 ABHD12
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GO Terms for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

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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 integral component of membrane GO:0016021 9.86 SERAC1 PTDSS1 PNPLA6 LPCAT4 DGKE CYP2U1
2 endoplasmic reticulum membrane GO:0005789 9.35 PTDSS1 PNPLA6 LPCAT4 CYP2U1 ABHD12
3 AMPA glutamate receptor complex GO:0032281 9.16 ABHD6 ABHD12
4 endoplasmic reticulum GO:0005783 9.1 SERAC1 PTDSS1 PNPLA6 LPCAT4 CYP2U1 ABHD12

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

# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.54 PNPLA6 DDHD2 DDHD1
2 phosphatidylglycerol acyl-chain remodeling GO:0036148 9.48 SERAC1 LPCAT4
3 positive regulation of mitochondrial fission GO:0090141 9.46 DDHD2 DDHD1
4 phosphatidic acid biosynthetic process GO:0006654 9.46 LPCAT4 DGKE DDHD2 DDHD1
5 phospholipid catabolic process GO:0009395 9.43 ABHD6 ABHD12
6 glycerophospholipid catabolic process GO:0046475 9.4 PNPLA6 ABHD12
7 phospholipid biosynthetic process GO:0008654 9.35 SERAC1 PTDSS1 LPCAT4 DGKE CHKB
8 monoacylglycerol catabolic process GO:0052651 9.32 ABHD6 ABHD12
9 lipid metabolic process GO:0006629 9.28 SERAC1 PTDSS1 PNPLA6 LPCAT4 DDHD2 DDHD1
10 acylglycerol catabolic process GO:0046464 9.26 ABHD6 ABHD12

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 hydrolase activity GO:0016787 9.65 PNPLA6 DDHD2 DDHD1 ABHD6 ABHD12
2 lysophospholipase activity GO:0004622 9.16 PNPLA6 ABHD12
3 acylglycerol lipase activity GO:0047372 8.96 ABHD6 ABHD12
4 phospholipase activity GO:0004620 8.92 DDHD2 DDHD1 ABHD6 ABHD12
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Sources for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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