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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Ataxia (D001259)
Parent Node: Cataract (D002386)
Parent Node: Polyneuropathies (D011115)
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
Child Nodes:
Sister Nodes:
..Aldred syndrome (C537046)
..Alstrom Syndrome (D056769)
..Amaurosis hypertrichosis (C536604)
..Bork Stender Schmidt syndrome (C536576)
..Chang Davidson Carlson syndrome (C538075)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..Cone Dystrophy 3 (C566579)
..Cone Dystrophy 4 (C567758)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone rod dystrophy amelogenesis imperfecta (C535976)
..Cone-Rod Dystrophy 1 (C563469)
..Cone-Rod Dystrophy 10 (C564597)
..Cone-Rod Dystrophy 11 (C563671)
..Cone-Rod Dystrophy 12 (C567206)
..Cone-Rod Dystrophy 13 (C567698)
..CONE-ROD DYSTROPHY 2 (OMIM:120970)
..Cone-Rod Dystrophy 3 (C565827)
..Cone-Rod Dystrophy 5 (C563415)
..Cone-Rod Dystrophy 7 (C566350)
..Cone-Rod Dystrophy 8 (C565322)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Flynn Aird syndrome (C537066)
..Furukawa Takagi Nakao syndrome (C538193)
..Hardikar syndrome (C535632)
..Kearns-Sayre Syndrome (D007625) 1
..Leber Congenital Amaurosis 14 (C567636)
..Leber Congenital Amaurosis 3 (C565814)
..Light Fixation Seizure Syndrome (C566367)
..Mainzer-Saldino Disease (C535463)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Neuropathy ataxia and retinis pigmentosa (C537396)
..Newfoundland Rod-Cone Dystrophy (C564391)
..Oculotrichodysplasia (C564934)
..Oliver-McFarlane syndrome (C536554)
..Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..Peripheral Cone Dystrophy (C563813)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Posterior column ataxia with retinitis pigmentosa (C536343)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Retinal cone dystrophy 2 (C538363)
..Retinal Cone Dystrophy 3A (C566483)
..Retinal Cone Dystrophy 3B (C563678)
..Retinal Cone Dystrophy 4 (C566470)
..Retinitis pigmentosa 1 (C538365)
..Retinitis Pigmentosa 10 (C566715)
..Retinitis Pigmentosa 11 (C563991)
..Retinitis Pigmentosa 12 (C563999)
..Retinitis Pigmentosa 13 (C564008)
..Retinitis Pigmentosa 14 (C563992)
..Retinitis Pigmentosa 17 (C563437)
..Retinitis Pigmentosa 18 (C563320)
..Retinitis Pigmentosa 19 (C566637)
..Retinitis Pigmentosa 2 (C567523)
..Retinitis Pigmentosa 20 (C566718)
..Retinitis Pigmentosa 25 (C566425)
..Retinitis Pigmentosa 26 (C564249)
..Retinitis Pigmentosa 27 (C563526)
..Retinitis Pigmentosa 29 (C567403)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 30 (C564310)
..Retinitis Pigmentosa 31 (C563685)
..Retinitis Pigmentosa 32 (C563689)
..Retinitis Pigmentosa 33 (C563676)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 35 (C565206)
..Retinitis Pigmentosa 36 (C566431)
..Retinitis Pigmentosa 37 (C567005)
..Retinitis Pigmentosa 4 (C566706)
..Retinitis Pigmentosa 41 (C567422)
..Retinitis Pigmentosa 42 (C567854)
..Retinitis Pigmentosa 46 (C567249)
..RETINITIS PIGMENTOSA 50 (OMIM:613194)
..RETINITIS PIGMENTOSA 51 (OMIM:613464)
..RETINITIS PIGMENTOSA 54 (OMIM:613428)
..RETINITIS PIGMENTOSA 55 (OMIM:613575)
..RETINITIS PIGMENTOSA 56 (OMIM:613581)
..RETINITIS PIGMENTOSA 57 (OMIM:613582)
..RETINITIS PIGMENTOSA 58 (OMIM:613617)
..Retinitis Pigmentosa 6 (C564065)
..Retinitis Pigmentosa 7 (C564284)
..Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..Retinitis Pigmentosa 7, Digenic (C567263)
..Retinitis Pigmentosa 9 (C566716)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..Retinitis Pigmentosa, Concentric (C567712)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Retinitis Pigmentosa, Late-Adult Onset (C564840)
..Retinitis Pigmentosa, Late-Onset Dominant (C567369)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Retinitis Pigmentosa, Y-Linked (C564035)
..Retinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..RHYNS syndrome (C537612)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Senior-Loken syndrome 4 (C537581)
..Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Tapetoretinal Degeneration with Ataxia (C564788)
..Usher Syndromes (D052245) 19
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9100

Name:

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Definition:

Alternative IDs:

OMIM:612674

ParentIDs:

MESH:D001259|MESH:D002386|MESH:D011115|MESH:D012174

TreeNumbers:

C10.597.350.090/C567203 |C10.668.829.800/C567203 |C11.270.684/C567203 |C11.510.245/C567203 |C11.768.585.658.500/C567203 |C16.320.290.684/C567203 |C23.888.592.350.090/C567203

Synonyms:

PHARC

Slim Mappings:

Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C567203
MeSH: C567203
OMIM: 612674;

Genes: ABHD12;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003674	Onset
3	HP:0001771	Achilles tendon contracture
4	HP:0001251	Ataxia
5	HP:0003487	Babinski sign
6	HP:0001272	Cerebellar atrophy
7	HP:0000762	Decreased nerve conduction velocity
8	HP:0003693	Distal amyotrophy
9	HP:0002936	Distal sensory impairment
10	HP:0001260	Dysarthria
11	HP:0001310	Dysmetria
12	HP:0001347	Hyperreflexia
13	HP:0001265	Hyporeflexia
14	HP:0002080	Intention tremor
15	HP:0000639	Nystagmus
16	HP:0000648	Optic atrophy
17	HP:0001761	Pes cavus
18	HP:0003812	Phenotypic variability
19	HP:0001271	Polyneuropathy
20	HP:0000510	Rod-cone dystrophy
21	HP:0007141	Sensorimotor neuropathy
22	HP:0000407	Sensorineural hearing impairment
23	HP:0003677	Slowly progressive
24	HP:0001257	Spasticity
25	HP:0000523	Subcapsular cataract

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_015600.4(ABHD12):c.1116C>G (p.His372Gln)	26090	ABHD12	Pathogenic	587777602	RCV000132767;	N	MedGen:C2675204,OMIM:612674,ORPHA:171848	20	25282896	25282896	NM_015600.4:c.1116C>G	NP_056415.1:p.His372Gln	20:g.25282896G>C	OMIM Allelic Variant:613599.0005	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
NM_015600.4(ABHD12):c.1054C>T (p.Arg352Ter)	26090	ABHD12	Pathogenic	267606624	RCV000000044;	N	MedGen:C2675204,OMIM:612674,ORPHA:171848	20	25282958	25282958	NM_015600.4:c.1054C>T	NP_056415.1:p.Arg352Ter	NC_000020.10:g.25282958G>A	OMIM Allelic Variant:613599.0004	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
NM_015600.4(ABHD12):c.846_852dupTAAGAGC (p.His285Terfs)	26090	ABHD12	Pathogenic	397704714	RCV000000043;	N	MedGen:C2675204,OMIM:612674,ORPHA:171848	20	25288617	25288623	NM_015600.4:c.846_852dupTAAGAGC	NP_056415.1:p.His285Terfs	NC_000020.10:g.25288617_25288623dupGCTCTTA	OMIM Allelic Variant:613599.0003	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
NM_015600.4(ABHD12):c.557G>C (p.Arg186Pro)	26090	ABHD12	Pathogenic	587777604	RCV000132769;	N	MedGen:C2675204,OMIM:612674,ORPHA:171848	20	25297700	25297700	NM_015600.4:c.557G>C	NP_056415.1:p.Arg186Pro	NC_000020.10:g.25297700C>G	OMIM Allelic Variant:613599.0007	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
NM_015600.4(ABHD12):c.477G>A (p.Trp159Ter)	26090	ABHD12	Pathogenic	587777603	RCV000132768;	N	MedGen:C2675204,OMIM:612674,ORPHA:171848	20	25300900	25300900	NM_015600.4:c.477G>A	NP_056415.1:p.Trp159Ter	20:g.25300900C>T	OMIM Allelic Variant:613599.0006	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
NM_015600.4(ABHD12):c.337_338delGAinsTTT (p.Asp113Phefs)	26090	ABHD12	Pathogenic	387906217	RCV000000041;	N	MedGen:C2675204,OMIM:612674,ORPHA:171848	20	25304045	25304046	NM_015600.4:c.337_338delGAinsTTT	NP_056415.1:p.Asp113Phefs	NC_000020.10:g.25304045_25304046delTCinsAAA	OMIM Allelic Variant:613599.0001	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
NM_015600.4(ABHD12):c.-6898_191+7002delinsCC	26090	ABHD12	Pathogenic	-1	RCV000000042;	N	MedGen:C2675204,OMIM:612674,ORPHA:171848	20	25364147	25378237	-	-		OMIM Allelic Variant:613599.0002,dbVar:nssv3761628,dbVar:nsv1067853	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract