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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
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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 57 72 36 29 13 6 70
Pharc Syndrome 12 58 15
Pharc 57 72
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®:

57 (Updated 20-May-2021)
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 : 72 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 ataxia and polyneuropathy, adult-onset and polyneuropathy, 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 Phospholipase D signaling pathway. Affiliated tissues include eye, and related phenotypes are spasticity and hyperreflexia

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 ataxia and polyneuropathy, adult-onset 10.4
2 polyneuropathy 10.4
3 retinitis pigmentosa 10.4
4 neuroretinitis 10.4
5 retinitis 10.4
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
7 cataract 10.2
8 demyelinating polyneuropathy 10.1
9 retinitis pigmentosa-deafness syndrome 10.0
10 usher syndrome 10.0
11 autosomal recessive disease 10.0
12 hereditary ataxia 10.0
13 spastic paraplegia 55, autosomal recessive 10.0 DDHD1 CYP2U1
14 spastic paraplegia 48, autosomal recessive 9.9 DDHD2 CYP2U1
15 spastic paraplegia 35, autosomal recessive 9.9 PNPLA6 DDHD2
16 refsum disease, classic 9.9
17 yemenite deaf-blind hypopigmentation syndrome 9.9
18 charcot-marie-tooth disease 9.9
19 tooth disease 9.9
20 peripheral nervous system disease 9.9
21 fundus dystrophy 9.9
22 neuropathy 9.9
23 rare neurodegenerative disease 9.9
24 spastic paraplegia 46, autosomal recessive 9.8 PNPLA6 DDHD2 CYP2U1
25 spastic paraplegia 73, autosomal dominant 9.8 PNPLA6 DDHD2 DDHD1
26 spastic paraplegia 49, autosomal recessive 9.8 DDHD2 DDHD1 CYP2U1
27 spastic paraplegia 39, autosomal recessive 9.8 PNPLA6 DDHD2 DDHD1
28 barth syndrome 9.7 SERAC1 DDHD1
29 spastic paraplegia 28, autosomal recessive 9.7 PNPLA6 DDHD2 DDHD1 CYP2U1
30 paraplegia 9.7 PNPLA6 DDHD2 DDHD1 CYP2U1
31 spastic paraplegia 54, autosomal recessive 9.7 PNPLA6 DDHD2 DDHD1 CYP2U1
32 spastic paraplegia 56, autosomal recessive 9.6 PNPLA6 DDHD2 DDHD1 CYP2U1
33 hereditary spastic paraplegia 9.6 PNPLA6 DDHD2 DDHD1 CYP2U1
34 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 9.5 SERAC1 DDHD2 DDHD1 CHKB
35 sengers syndrome 9.5 SERAC1 DDHD2 DDHD1 CHKB
36 lenz-majewski hyperostotic dwarfism 8.8 SERAC1 PTDSS1 PCYT1A DDHD2 DDHD1 CYP2U1

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 spasticity 31 HP:0001257
2 hyperreflexia 31 HP:0001347
3 nystagmus 31 HP:0000639
4 ataxia 31 HP:0001251
5 dysarthria 31 HP:0001260
6 sensorineural hearing impairment 31 HP:0000407
7 optic atrophy 31 HP:0000648
8 decreased nerve conduction velocity 31 HP:0000762
9 achilles tendon contracture 31 HP:0001771
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 polyneuropathy 31 HP:0001271
17 intention tremor 31 HP:0002080
18 distal sensory impairment 31 HP:0002936
19 distal amyotrophy 31 HP:0003693
20 sensorimotor neuropathy 31 HP:0007141
21 subcapsular cataract 31 HP:0000523

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
dysarthria
dysmetria
more
Skeletal Feet:
achilles tendon contracture
pes cavus

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 (Updated 20-May-2021)

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


ataxia; action tremor; muscle spasticity
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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
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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 14)
# Title Authors PMID Year
1
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 61 57 6
24697911 2014
2
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. 6 57 61
20797687 2010
3
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 6 61
29571850 2018
4
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6
26257172 2015
5
A novel Refsum-like disorder that maps to chromosome 20. 57
19005174 2009
6
Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome. 61
32077159 2020
7
Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC. 61
32462874 2020
8
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. 61
30974196 2019
9
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
10
Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids. 61
30237167 2018
11
A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature. 61
28448692 2017
12
Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay. 61
25580854 2015
13
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. 61
25178427 2015
14
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 67)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABHD12 NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln) SNV Pathogenic 143235 rs587777602 GRCh37: 20:25282896-25282896
GRCh38: 20:25302260-25302260
2 ABHD12 NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter) SNV Pathogenic 143236 rs587777603 GRCh37: 20:25300900-25300900
GRCh38: 20:25320264-25320264
3 ABHD12 Deletion Pathogenic 243081 GRCh37: 20:25364310-25378180
GRCh38: 20:25383675-25397545
4 ABHD12 NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs) Deletion Pathogenic 430695 rs1555817157 GRCh37: 20:25319956-25319968
GRCh38: 20:25339320-25339332
5 ABHD12 NM_001042472.3(ABHD12):c.249C>G (p.Tyr83Ter) SNV Pathogenic 518455 rs1303044966 GRCh37: 20:25319930-25319930
GRCh38: 20:25339294-25339294
6 ABHD12 NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro) SNV Pathogenic 143237 rs587777604 GRCh37: 20:25297700-25297700
GRCh38: 20:25317064-25317064
7 ABHD12 NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs) Indel Pathogenic 24 rs1555813914 GRCh37: 20:25304045-25304046
GRCh38: 20:25323409-25323410
8 ABHD12 NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter) SNV Pathogenic 27 rs267606624 GRCh37: 20:25282958-25282958
GRCh38: 20:25302322-25302322
9 ABHD12 NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter) Duplication Pathogenic 26 rs397704714 GRCh37: 20:25288616-25288617
GRCh38: 20:25307980-25307981
10 ABHD12 NM_015600.4(ABHD12):c.-6898_191+7002delinsCC Indel Pathogenic 25 GRCh37: 20:25364147-25378237
GRCh38: 20:25383511-25397601
11 ABHD12 NM_001042472.3(ABHD12):c.867+2C>T SNV Pathogenic 1032573 GRCh37: 20:25288600-25288600
GRCh38: 20:25307964-25307964
12 ABHD12 NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del) Deletion Likely pathogenic 545443 rs1555810299 GRCh37: 20:25282883-25282888
GRCh38: 20:25302247-25302252
13 ABHD12 NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter) SNV Likely pathogenic 452247 rs776800006 GRCh37: 20:25287545-25287545
GRCh38: 20:25306909-25306909
14 ABHD12 NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu) SNV Likely pathogenic 265985 rs886039872 GRCh37: 20:25284244-25284244
GRCh38: 20:25303608-25303608
15 ABHD12 NM_001042472.3(ABHD12):c.453C>T (p.Asn151=) SNV Uncertain significance 337995 rs375299452 GRCh37: 20:25300924-25300924
GRCh38: 20:25320288-25320288
16 ABHD12 NM_001042472.3(ABHD12):c.*377C>T SNV Uncertain significance 337982 rs886056562 GRCh37: 20:25281104-25281104
GRCh38: 20:25300468-25300468
17 ABHD12 NM_001042472.3(ABHD12):c.-82_-76del Deletion Uncertain significance 338001 rs886056564 GRCh37: 20:25371415-25371421
GRCh38: 20:25390779-25390785
18 ABHD12 NM_001042472.3(ABHD12):c.858A>C (p.Pro286=) SNV Uncertain significance 337991 rs372807311 GRCh37: 20:25288611-25288611
GRCh38: 20:25307975-25307975
19 ABHD12 NM_001042472.2(ABHD12):c.-221G>A SNV Uncertain significance 338005 rs879795178 GRCh37: 20:25371560-25371560
GRCh38: 20:25390924-25390924
20 ABHD12 NM_001042472.3(ABHD12):c.*45G>C SNV Uncertain significance 337989 rs200450758 GRCh37: 20:25281436-25281436
GRCh38: 20:25300800-25300800
21 ABHD12 NM_001042472.3(ABHD12):c.543-13T>C SNV Uncertain significance 337994 rs575339393 GRCh37: 20:25297727-25297727
GRCh38: 20:25317091-25317091
22 ABHD12 NM_001042472.3(ABHD12):c.*414del Deletion Uncertain significance 337981 rs886056561 GRCh37: 20:25281067-25281067
GRCh38: 20:25300431-25300431
23 ABHD12 NM_001042472.3(ABHD12):c.-118T>C SNV Uncertain significance 338003 rs886056565 GRCh37: 20:25371457-25371457
GRCh38: 20:25390821-25390821
24 ABHD12 NM_001042472.3(ABHD12):c.-44C>G SNV Uncertain significance 338000 rs373200654 GRCh37: 20:25371383-25371383
GRCh38: 20:25390747-25390747
25 ABHD12 NM_001042472.2(ABHD12):c.-260G>A SNV Uncertain significance 338006 rs886056566 GRCh37: 20:25371599-25371599
GRCh38: 20:25390963-25390963
26 ABHD12 NM_015600.5(ABHD12):c.1157+2023C>T SNV Uncertain significance 369354 rs527626109 GRCh37: 20:25280832-25280832
GRCh38: 20:25300196-25300196
27 ABHD12 NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) SNV Uncertain significance 283186 rs188888939 GRCh37: 20:25282971-25282971
GRCh38: 20:25302335-25302335
28 ABHD12 NM_001042472.3(ABHD12):c.802G>T (p.Ala268Ser) SNV Uncertain significance 337992 rs186440319 GRCh37: 20:25288667-25288667
GRCh38: 20:25308031-25308031
29 ABHD12 NM_001042472.3(ABHD12):c.836G>A (p.Arg279His) SNV Uncertain significance 385607 rs180761451 GRCh37: 20:25288633-25288633
GRCh38: 20:25307997-25307997
30 ABHD12 NM_001042472.3(ABHD12):c.315C>T (p.Phe105=) SNV Uncertain significance 848451 GRCh37: 20:25319864-25319864
GRCh38: 20:25339228-25339228
31 ABHD12 NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter) SNV Uncertain significance 191159 rs745990956 GRCh37: 20:25281489-25281489
GRCh38: 20:25300853-25300853
32 ABHD12 NM_001042472.3(ABHD12):c.203T>C (p.Val68Ala) SNV Uncertain significance 337997 rs140967031 GRCh37: 20:25319976-25319976
GRCh38: 20:25339340-25339340
33 ABHD12 NM_001042472.3(ABHD12):c.*353G>A SNV Uncertain significance 337983 rs886056563 GRCh37: 20:25281128-25281128
GRCh38: 20:25300492-25300492
34 ABHD12 NM_001042472.3(ABHD12):c.875G>A (p.Arg292Gln) SNV Uncertain significance 895671 GRCh37: 20:25287544-25287544
GRCh38: 20:25306908-25306908
35 ABHD12 NM_001042472.3(ABHD12):c.960C>T (p.His320=) SNV Uncertain significance 895670 GRCh37: 20:25284255-25284255
GRCh38: 20:25303619-25303619
36 ABHD12 NM_001042472.3(ABHD12):c.1044C>T (p.Ala348=) SNV Uncertain significance 895669 GRCh37: 20:25282968-25282968
GRCh38: 20:25302332-25302332
37 ABHD12 NM_001042472.3(ABHD12):c.653G>A (p.Arg218Gln) SNV Uncertain significance 1032572 GRCh37: 20:25290178-25290178
GRCh38: 20:25309542-25309542
38 ABHD12 NM_001042472.3(ABHD12):c.334A>T (p.Ile112Phe) SNV Uncertain significance 337996 rs376230028 GRCh37: 20:25304049-25304049
GRCh38: 20:25323413-25323413
39 ABHD12 NM_001042472.3(ABHD12):c.250A>G (p.Ile84Val) SNV Uncertain significance 897558 GRCh37: 20:25319929-25319929
GRCh38: 20:25339293-25339293
40 ABHD12 NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp) SNV Uncertain significance 337993 rs41306784 GRCh37: 20:25289111-25289111
GRCh38: 20:25308475-25308475
41 ABHD12 NM_001042472.3(ABHD12):c.26C>T (p.Ala9Val) SNV Uncertain significance 898715 GRCh37: 20:25371314-25371314
GRCh38: 20:25390678-25390678
42 ABHD12 NM_001042472.3(ABHD12):c.137C>G (p.Ala46Gly) SNV Uncertain significance 898714 GRCh37: 20:25371203-25371203
GRCh38: 20:25390567-25390567
43 ABHD12 NM_001042472.3(ABHD12):c.*22A>G SNV Uncertain significance 898650 GRCh37: 20:25281459-25281459
GRCh38: 20:25300823-25300823
44 ABHD12 NM_001042472.3(ABHD12):c.*149G>A SNV Uncertain significance 898649 GRCh37: 20:25281332-25281332
GRCh38: 20:25300696-25300696
45 ABHD12 NM_001042472.3(ABHD12):c.*177C>T SNV Uncertain significance 898648 GRCh37: 20:25281304-25281304
GRCh38: 20:25300668-25300668
46 ABHD12 NM_001042472.3(ABHD12):c.167C>T (p.Ala56Val) SNV Uncertain significance 897560 GRCh37: 20:25371173-25371173
GRCh38: 20:25390537-25390537
47 ABHD12 NM_001042472.3(ABHD12):c.191+15G>A SNV Uncertain significance 897559 GRCh37: 20:25371134-25371134
GRCh38: 20:25390498-25390498
48 ABHD12 NM_001042472.3(ABHD12):c.*331G>A SNV Uncertain significance 897494 GRCh37: 20:25281150-25281150
GRCh38: 20:25300514-25300514
49 ABHD12 NM_001042472.3(ABHD12):c.*331G>C SNV Uncertain significance 897493 GRCh37: 20:25281150-25281150
GRCh38: 20:25300514-25300514
50 ABHD12 NM_001042472.3(ABHD12):c.542+6G>A SNV Uncertain significance 897083 GRCh37: 20:25300829-25300829
GRCh38: 20:25320193-25320193

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

72
# Symbol AA change Variation ID SNP ID
1 ABHD12 p.Thr253Arg VAR_081591 rs772987424

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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
 13.26 PTDSS1 PNPLA6 PCYT1A LPCAT4 DGKE DDHD2
2
Phospholipase D signaling pathway 36
Show member pathways
 11.97 PCYT1A DGKE CHKB
3
Glycerophospholipid biosynthesis 65
Show member pathways
 11.96 PTDSS1 PNPLA6 PCYT1A LPCAT4 DGKE DDHD2
4
Acyl chain remodelling of PE 65
Show member pathways
 11.54 LPCAT4 DDHD2 DDHD1
5
Effects of PIP2 hydrolysis 65
Show member pathways
 10.87 DGKE ABHD12
6
Synthesis of PC 65
10.77 PCYT1A CHKB
7
Glycerophospholipid Biosynthetic Pathway 1
Show member pathways
 10.62 PTDSS1 CHKB
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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 endoplasmic reticulum membrane GO:0005789 9.43 PTDSS1 PNPLA6 PCYT1A LPCAT4 CYP2U1 ABHD12
2 endoplasmic reticulum GO:0005783 9.17 SERAC1 PTDSS1 PNPLA6 PCYT1A LPCAT4 CYP2U1

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 9.5 PNPLA6 DDHD2 DDHD1
2 phosphatidylcholine biosynthetic process GO:0006656 9.46 PCYT1A CHKB
3 phosphatidic acid biosynthetic process GO:0006654 9.46 LPCAT4 DGKE DDHD2 DDHD1
4 phosphatidylglycerol acyl-chain remodeling GO:0036148 9.43 SERAC1 LPCAT4
5 positive regulation of mitochondrial fission GO:0090141 9.4 DDHD2 DDHD1
6 glycerophospholipid catabolic process GO:0046475 9.37 PNPLA6 ABHD12
7 phospholipid biosynthetic process GO:0008654 9.35 SERAC1 PTDSS1 PCYT1A LPCAT4 CHKB
8 lipid metabolic process GO:0006629 9.28 SERAC1 PTDSS1 PNPLA6 PCYT1A LPCAT4 DDHD2
9 CDP-choline pathway GO:0006657 9.26 PCYT1A CHKB

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 8.96 PNPLA6 ABHD12
2 phospholipase activity GO:0004620 8.8 DDHD2 DDHD1 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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