MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..RETINITIS PIGMENTOSA 70 (OMIM:615922)
Child Nodes:
Sister Nodes:
..Aldred syndrome (C537046)
..Alstrom Syndrome (D056769)
..Amaurosis hypertrichosis (C536604)
..Bardet-Biedl Syndrome (D020788) 13
..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 16 (OMIM:614500)
..CONE-ROD DYSTROPHY 18 (OMIM:615374)
..CONE-ROD DYSTROPHY 19 (OMIM:615860)
..CONE-ROD DYSTROPHY 2 (OMIM:120970)
..CONE-ROD DYSTROPHY 20 (OMIM:615973)
..CONE-ROD DYSTROPHY 21 (OMIM:616502)
..Cone-Rod Dystrophy 3 (C565827)
..Cone-Rod Dystrophy 5 (C563415)
..Cone-Rod Dystrophy 7 (C566350)
..Cone-Rod Dystrophy 8 (C565322)
..CONE-ROD DYSTROPHY AND HEARING LOSS (OMIM:617236)
..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 L: 00143;
..Leber Congenital Amaurosis 14 (C567636)
..Leber Congenital Amaurosis 3 (C565814)
..Light Fixation Seizure Syndrome (C566367)
..MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..Mainzer-Saldino Disease (C535463)
..Meckel syndrome type 1 (C536133)
..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 retinitis pigmentosa (C537396) L: 00168;
..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 22 (OMIM:602594)
..RETINITIS PIGMENTOSA 23 (OMIM:300424)
..RETINITIS PIGMENTOSA 24 (OMIM:300155)
..Retinitis Pigmentosa 25 (C566425)
..Retinitis Pigmentosa 26 (C564249)
..Retinitis Pigmentosa 27 (C563526)
..RETINITIS PIGMENTOSA 28 (OMIM:606068)
..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 38 (OMIM:613862)
..RETINITIS PIGMENTOSA 39 (OMIM:613809)
..Retinitis Pigmentosa 4 (C566706)
..RETINITIS PIGMENTOSA 40 (OMIM:613801)
..Retinitis Pigmentosa 41 (C567422)
..Retinitis Pigmentosa 42 (C567854)
..RETINITIS PIGMENTOSA 43 (OMIM:613810)
..RETINITIS PIGMENTOSA 44 (OMIM:613769)
..RETINITIS PIGMENTOSA 45 (OMIM:613767)
..Retinitis Pigmentosa 46 (C567249)
..RETINITIS PIGMENTOSA 47 (OMIM:613758)
..RETINITIS PIGMENTOSA 48 (OMIM:613827)
..RETINITIS PIGMENTOSA 49 (OMIM:613756)
..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 59 (OMIM:613861)
..Retinitis Pigmentosa 6 (C564065)
..RETINITIS PIGMENTOSA 60 (OMIM:613983)
..RETINITIS PIGMENTOSA 61 (OMIM:614180)
..RETINITIS PIGMENTOSA 62 (OMIM:614181)
..RETINITIS PIGMENTOSA 66 (OMIM:615233)
..RETINITIS PIGMENTOSA 67 (OMIM:615565)
..RETINITIS PIGMENTOSA 68 (OMIM:615725)
..RETINITIS PIGMENTOSA 69 (OMIM:615780)
..Retinitis Pigmentosa 7 (C564284)
..Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..Retinitis Pigmentosa 7, Digenic (C567263)
..RETINITIS PIGMENTOSA 70 (OMIM:615922)
..RETINITIS PIGMENTOSA 71 (OMIM:616394)
..RETINITIS PIGMENTOSA 72 (OMIM:616469)
..RETINITIS PIGMENTOSA 73 (OMIM:616544)
..RETINITIS PIGMENTOSA 74 (OMIM:616562)
..RETINITIS PIGMENTOSA 75 (OMIM:617023)
..RETINITIS PIGMENTOSA 76 (OMIM:617123)
..RETINITIS PIGMENTOSA 77 (OMIM:617304)
..RETINITIS PIGMENTOSA 78 (OMIM:617433)
..RETINITIS PIGMENTOSA 79 (OMIM:617460)
..RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
..Retinitis Pigmentosa 9 (C566716)
..RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
..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 L: 00160;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10755

Name:

RETINITIS PIGMENTOSA 70

Definition:

Alternative IDs:

DO:DOID:0110392

ParentIDs:

MESH:D012174

TreeNumbers:

C11.270.684/615922 |C11.768.585.658.500/615922 |C16.320.290.684/615922

Synonyms:

RP70

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: 615922
MeSH: 615922
OMIM: 615922;
MSeqDR :
Genes: PRPF4;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000662	Nyctalopia
3	HP:0000543	Optic disc pallor
4	HP:0000546	Retinal degeneration
5	HP:0000510	Rod-cone dystrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_004697.4(PRPF4):c.-114_-97del	9128	PRPF4	Uncertain significance	541873609	RCV000132565\|RCV001849950\|RCV002247512;	N	MONDO:MONDO:0014400,MedGen:C4014681,OMIM:615922, Orphanet:791\|MedGen:C3661900\|MedGen:CN169374	9	116037910	116037927	9:g.116037910_116037927del	ClinGen:CA170080,OMIM:607795.0002	C4014681 615922 Retinitis pigmentosa 70;
NM_001244926.2(PRPF4):c.654+4A>T	9128	PRPF4	Uncertain significance	556015541	RCV001331292\|RCV001366399;	N	MONDO:MONDO:0014400,MedGen:C4014681,OMIM:615922, Orphanet:791\|MedGen:C3661900	9	116045766	116045766	116045766	-
NM_001244926.2(PRPF4):c.750-11G>A	9128	PRPF4	Uncertain significance	-1	RCV002471742;	N	MONDO:MONDO:0014400,MedGen:C4014681,OMIM:615922, Orphanet:791	9	116048501	116048501	NC_000009.11:g.116048501G>A	-
NM_001244926.2(PRPF4):c.941C>T (p.Pro314Leu)	9128	PRPF4	Likely pathogenic	587777599	RCV000132564\|RCV001268585;	N	MONDO:MONDO:0014400,MedGen:C4014681,OMIM:615922, Orphanet:791\|MedGen:C3661900	9	116050463	116050463	9:g.116050463C>T	ClinGen:CA170079,UniProtKB:O43172#VAR_071872,OMIM:607795.0001	C4014681 615922 Retinitis pigmentosa 70;
NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn)	9128	PRPF4	Conflicting interpretations of pathogenicity	141207203	RCV001210372\|RCV002471044\|RCV002561735;	N	MedGen:C3661900\|MONDO:MONDO:0014400,MedGen:C4014681,OMIM:615922, Orphanet:791\|MeSH:D030342,MedGen:C0950123	9	116053878	116053878	9:g.116053878G>A	-

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