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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: Retinitis Pigmentosa (D012174)
..Starting node ..Retinitis Pigmentosa 20 (C566718)
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:

9747

Name:

Retinitis Pigmentosa 20

Definition:

Alternative IDs:

ParentIDs:

MESH:D012174

TreeNumbers:

C11.270.684/C566718 |C11.768.585.658.500/C566718 |C16.320.290.684/C566718

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C566718
MeSH: C566718
OMIM: 613794;

Genes: RPE65;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007843	Attenuation of retinal blood vessels
3	HP:0000662	Nyctalopia
4	HP:0000639	Nystagmus
5	HP:0000510	Rod-cone dystrophy
6	HP:0001141	Severely reduced visual acuity
7	HP:0000505	Visual impairment

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_000329.2(RPE65):c.1543C>T (p.Arg515Trp)	6121	RPE65	Pathogenic	121917745	RCV000014000; RCV000013999; RCV000132583; RCV000085176;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1859844,OMIM:204100; MedGen:C3151086,OMIM:613794; MedGen:CN221809	1	68895518	68895518	NM_000329.2:c.1543C>T	NP_000320.1:p.Arg515Trp	NC_000001.10:g.68895518G>A	OMIM Allelic Variant:180069.0008	C1859844 204100 Leber congenital amaurosis 2; CN221809 not provided; C0035334 268000 Retinitis pigmentosa; C3151086 613794 Retinitis pigmentosa 20
NM_000329.2(RPE65):c.1355T>G (p.Val452Gly)	6121	RPE65	Pathogenic	62637004	RCV000013995; RCV000085169;	N	MedGen:C3151086,OMIM:613794; MedGen:CN221809	1	68896843	68896843	NM_000329.2:c.1355T>G	NP_000320.1:p.Val452Gly	NC_000001.10:g.68896843A>C	OMIM Allelic Variant:180069.0007	CN221809 not provided; C3151086 613794 Retinitis pigmentosa 20
NM_000329.2(RPE65):c.1102T>C (p.Tyr368His)	6121	RPE65	Pathogenic	62653011	RCV000022750; RCV000022749; RCV000085150;	N	MedGen:C1859844,OMIM:204100; MedGen:C3151086,OMIM:613794; MedGen:CN221809	1	68903896	68903896	NM_000329.2:c.1102T>C	NP_000320.1:p.Tyr368His	NC_000001.10:g.68903896A>G	OMIM Allelic Variant:180069.0009	C1859844 204100 Leber congenital amaurosis 2; CN221809 not provided; C3151086 613794 Retinitis pigmentosa 20
NM_000329.2(RPE65):c.1087C>A (p.Pro363Thr)	6121	RPE65	Pathogenic	121917744	RCV000013996;	N	MedGen:C3151086,OMIM:613794	1	68903911	68903911	NM_000329.2:c.1087C>A	NP_000320.1:p.Pro363Thr	NC_000001.10:g.68903911G>T	OMIM Allelic Variant:180069.0003	C3151086 613794 Retinitis pigmentosa 20
NM_000329.2(RPE65):c.1022T>C (p.Leu341Ser)	6121	RPE65	Pathogenic	61752909	RCV000013997; RCV000085141;	N	MedGen:C3151086,OMIM:613794; MedGen:CN221809	1	68903976	68903976	NM_000329.2:c.1022T>C	NP_000320.1:p.Leu341Ser	NC_000001.10:g.68903976A>G	OMIM Allelic Variant:180069.0004	CN221809 not provided; C3151086 613794 Retinitis pigmentosa 20
NM_000329.2(RPE65):c.394G>A (p.Ala132Thr)	6121	RPE65	Pathogenic	61752878	RCV000013998; RCV000085196;	N	MedGen:C3151086,OMIM:613794; MedGen:CN221809	1	68910315	68910315	NM_000329.2:c.394G>A	NP_000320.1:p.Ala132Thr	NC_000001.10:g.68910315C>T	OMIM Allelic Variant:180069.0005	CN221809 not provided; C3151086 613794 Retinitis pigmentosa 20
NM_000329.2(RPE65):c.271C>T (p.Arg91Trp)	6121	RPE65	Pathogenic	61752871	RCV000013994; RCV000085184;	N	MedGen:C3151086,OMIM:613794; MedGen:CN221809	1	68910541	68910541	NM_000329.2:c.271C>T	NP_000320.1:p.Arg91Trp	NC_000001.10:g.68910541G>A	OMIM Allelic Variant:180069.0006	CN221809 not provided; C3151086 613794 Retinitis pigmentosa 20