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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: Genetic Diseases, X-Linked (D040181)
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..Retinitis Pigmentosa 3 (C564520)
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:

9752

Name:

Retinitis Pigmentosa 3

Definition:

Alternative IDs:

OMIM:300029

ParentIDs:

MESH:D012174|MESH:D040181

TreeNumbers:

C11.270.684/C564520 |C11.768.585.658.500/C564520 |C16.320.290.684/C564520 |C16.320.322/C564520

Synonyms:

Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women |Cone-Rod Degeneration, X-Linked |Retinitis Pigmentosa 15 |RP15 |RP3

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C564520
MeSH: C564520
OMIM: 300029;

Genes: RPGR;

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0000548	Cone/cone-rod dystrophy
3	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_001034853.1(RPGR):c.2650G>T (p.Glu884Ter)	6103	RPGR	Pathogenic	137852549	RCV000010586;	N	MedGen:C1848295,OMIM:300029	X	38145602	38145602	NM_001034853.1:c.2650G>T	NP_001030025.1:p.Glu884Ter	NC_000023.10:g.38145602C>A	OMIM Allelic Variant:312610.0012	C1848295 300029 Retinitis pigmentosa 15
NM_001034853.1(RPGR):c.2405_2406delAG (p.Glu802Glyfs)	6103	RPGR	Pathogenic	398122960	RCV000076907;	N	MedGen:C1848295,OMIM:300029	X	38145846	38145847	NM_001034853.1:c.2405_2406delAG	NP_001030025.1:p.Glu802Glyfs	NC_000023.10:g.38145846_38145847delCT	OMIM Allelic Variant:312610.0026	C1848295 300029 Retinitis pigmentosa 15
NM_000328.2(RPGR):c.823G>A (p.Gly275Ser)	6103	RPGR	Pathogenic	62642057	RCV000010577; RCV000085125;	N	MedGen:C1848295,OMIM:300029; MedGen:CN221809	X	38163999	38163999	NM_000328.2:c.823G>A	NP_000319.1:p.Gly275Ser	NC_000023.10:g.38163999C>T	OMIM Allelic Variant:312610.0003	CN221809 not provided; C1848295 300029 Retinitis pigmentosa 15
NM_000328.2(RPGR):c.806G>A (p.Gly269Glu)	6103	RPGR	Likely pathogenic	398123336	RCV000180142; RCV000078654;	N	MedGen:C1848295,OMIM:300029; MedGen:CN221809	X	38164016	38164016	NM_000328.2:c.806G>A	NP_000319.1:p.Gly269Glu	NC_000023.10:g.38164016C>T	-	CN221809 not provided; C1848295 300029 Retinitis pigmentosa 15
NM_000328.2(RPGR):c.703C>T (p.Pro235Ser)	6103	RPGR	Pathogenic	62638651	RCV000010576; RCV000085116;	N	MedGen:C1848295,OMIM:300029; MedGen:CN221809	X	38169943	38169943	NM_000328.2:c.703C>T	NP_000319.1:p.Pro235Ser	NC_000023.10:g.38169943G>A	OMIM Allelic Variant:312610.0002	CN221809 not provided; C1848295 300029 Retinitis pigmentosa 15
NM_000328.2(RPGR):c.642_656delTGGAGAACCTGAGAAinsC (p.Gly215Trpfs)	6103	RPGR	Pathogenic	796065331	RCV000179750;	N	MedGen:C1848295,OMIM:300029	X	38169990	38170004	NM_000328.2:c.642_656delTGGAGAACCTGAGAAinsC	NP_000319.1:p.Gly215Trpfs	NC_000023.10:g.38169990_38170004delTTCTCAGGTTCTCCAinsG	-	C1848295 300029 Retinitis pigmentosa 15
NM_000328.2(RPGR):c.505G>T (p.Glu169Ter)	6103	RPGR	Pathogenic	369037463	RCV000179289; RCV000078653;	N	MedGen:C1848295,OMIM:300029; MedGen:CN221809	X	38176683	38176683	NM_000328.2:c.505G>T	NP_000319.1:p.Glu169Ter	NC_000023.10:g.38176683C>A	-	CN221809 not provided; C1848295 300029 Retinitis pigmentosa 15
NM_000328.2(RPGR):c.389T>G (p.Phe130Cys)	6103	RPGR	Pathogenic	62638644	RCV000010575; RCV000085105;	N	MedGen:C1848295,OMIM:300029; MedGen:CN221809	X	38178162	38178162	NM_000328.2:c.389T>G	NP_000319.1:p.Phe130Cys	NC_000023.10:g.38178162A>C	OMIM Allelic Variant:312610.0001	CN221809 not provided; C1848295 300029 Retinitis pigmentosa 15
NM_000328.2(RPGR):c.296C>A (p.Thr99Asn)	6103	RPGR	Pathogenic	62638637	RCV000010584; RCV000085096;	N	MedGen:C1848295,OMIM:300029; MedGen:CN221809	X	38180294	38180294	NM_000328.2:c.296C>A	NP_000319.1:p.Thr99Asn	NC_000023.10:g.38180294G>T	OMIM Allelic Variant:312610.0009	CN221809 not provided; C1848295 300029 Retinitis pigmentosa 15
NM_000328.2(RPGR):c.179G>T (p.Gly60Val)	6103	RPGR	Pathogenic	62638634	RCV000010580; RCV000085072;	N	MedGen:C1848295,OMIM:300029; MedGen:CN221809	X	38182174	38182174	NM_000328.2:c.179G>T	NP_000319.1:p.Gly60Val	NC_000023.10:g.38182174C>A	OMIM Allelic Variant:312610.0006	CN221809 not provided; C1848295 300029 Retinitis pigmentosa 15
NM_000328.2(RPGR):c.155-2A>G	6103	RPGR	Pathogenic	62638632	RCV000177041; RCV000078647;	N	MedGen:C1848295,OMIM:300029; MedGen:CN221809	X	38182200	38182200	NM_000328.2:c.155-2A>G		NC_000023.10:g.38182200T>C	HGMD:CS992252	CN221809 not provided; C1848295 300029 Retinitis pigmentosa 15