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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 13 (C564008)
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:

9741

Name:

Retinitis Pigmentosa 13

Definition:

Alternative IDs:

OMIM:600059

ParentIDs:

MESH:D012174

TreeNumbers:

C11.270.684/C564008 |C11.768.585.658.500/C564008 |C16.320.290.684/C564008

Synonyms:

RP13

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C564008
MeSH: C564008
OMIM: 600059;

Genes: PRPF8;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001133	Constriction of peripheral visual field
3	HP:0011505	Cystoid macular edema	HP:0040283
4	HP:0007894	Hypopigmentation of the fundus
5	HP:0003829	Incomplete penetrance
6	HP:0000662	Nyctalopia
7	HP:0000546	Retinal degeneration
8	HP:0000510	Rod-cone dystrophy

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_006445.3(PRPF8):c.6929G>A (p.Arg2310Lys)	10594	PRPF8	Pathogenic	121434238	RCV000003521;	N	MedGen:C1838702,OMIM:600059	17	1554175	1554175	NM_006445.3:c.6929G>A	NP_006436.3:p.Arg2310Lys	NC_000017.10:g.1554175C>T	OMIM Allelic Variant:607300.0003	C1838702 600059 Retinitis pigmentosa 13
NM_006445.3(PRPF8):c.6926A>G (p.His2309Arg)	10594	PRPF8	Pathogenic	121434236	RCV000003519;	N	MedGen:C1838702,OMIM:600059	17	1554178	1554178	NM_006445.3:c.6926A>G	NP_006436.3:p.His2309Arg	NC_000017.10:g.1554178T>C,NC_000017.10:g.1554178T>G	OMIM Allelic Variant:607300.0001	C1838702 600059 Retinitis pigmentosa 13
NM_006445.3(PRPF8):c.6926A>C (p.His2309Pro)	10594	PRPF8	Pathogenic	121434236	RCV000003520;	N	MedGen:C1838702,OMIM:600059	17	1554178	1554178	NM_006445.3:c.6926A>C	NP_006436.3:p.His2309Pro	NC_000017.10:g.1554178T>C,NC_000017.10:g.1554178T>G	OMIM Allelic Variant:607300.0002	C1838702 600059 Retinitis pigmentosa 13
NM_006445.3(PRPF8):c.6912C>G (p.Phe2304Leu)	10594	PRPF8	Pathogenic	121434240	RCV000003523;	N	MedGen:C1838702,OMIM:600059	17	1554192	1554192	NM_006445.3:c.6912C>G	NP_006436.3:p.Phe2304Leu	NC_000017.10:g.1554192G>C	OMIM Allelic Variant:607300.0005	C1838702 600059 Retinitis pigmentosa 13
NM_006445.3(PRPF8):c.6901C>A (p.Pro2301Thr)	10594	PRPF8	Pathogenic	121434239	RCV000003522;	N	MedGen:C1838702,OMIM:600059	17	1554203	1554203	NM_006445.3:c.6901C>A	NP_006436.3:p.Pro2301Thr	NC_000017.10:g.1554203G>T	OMIM Allelic Variant:607300.0004	C1838702 600059 Retinitis pigmentosa 13
NM_006445.3(PRPF8):c.6353C>T (p.Ser2118Phe)	10594	PRPF8	Pathogenic	387906971	RCV000023643;	N	MedGen:C1838702,OMIM:600059	17	1556852	1556852	NM_006445.3:c.6353C>T	NP_006436.3:p.Ser2118Phe	NC_000017.10:g.1556852G>A	OMIM Allelic Variant:607300.0006	C1838702 600059 Retinitis pigmentosa 13