Disease Browser
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Parent Node: Genetic Diseases, X-Linked (D040181) | Parent Node: Retinitis Pigmentosa (D012174) | ..Starting node ..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
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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
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 2587 |
Name: | Cone-Rod Dystrophy, X-Linked, 3 |
Definition: | |
Alternative IDs: | OMIM:300476 |
ParentIDs: | MESH:D012174|MESH:D040181 |
TreeNumbers: | C11.270.684/C564507 |C11.768.585.658.500/C564507 |C16.320.290.684/C564507 |C16.320.322/C564507 |
Synonyms: | CORDX3 |
Slim Mappings: | Eye disease|Genetic disease (inborn) |
Reference: |
MedGen: C564507
MeSH: C564507
OMIM: 300476;
Genes: CACNA1F; | Phenotypes | | 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 | Disease_hgmd | NM_005183.3(CACNA1F):c.3472-1_3475delGCGTCinsTGG | 778 | CACNA1F | Pathogenic | 863223294 | RCV000012386; | N | MedGen:C1845407,OMIM:300476 | X | 49071701 | 49071705 | NM_005183.3:c.3472-1_3475delGCGTCinsTGG | | NC_000023.10:g.49071701_49071705delGACGCinsCCA | OMIM Allelic Variant:300110.0007 | C1845407 300476 Cone-rod dystrophy X-linked 3 | | | NM_005183.3(CACNA1F):c.2542G>A (p.Gly848Ser) | 778 | CACNA1F | Pathogenic | 863225090 | RCV000201353; | N | MedGen:C1845407,OMIM:300476 | X | 49076127 | 49076127 | NM_005183.3:c.2542G>A | NP_005174.2:p.Gly848Ser | NC_000023.10:g.49076127C>T | OMIM Allelic Variant:300110.0009 | C1845407 300476 Cone-rod dystrophy X-linked 3 | | | NM_005183.3(CACNA1F):c.244C>T (p.Arg82Ter) | 778 | CACNA1F | Pathogenic | 797044676 | RCV000175796; RCV000175797; | N | MedGen:C1845407,OMIM:300476; MedGen:C1848172,OMIM:300071 | X | 49088171 | 49088171 | NM_005183.3:c.244C>T | NP_005174.2:p.Arg82Ter | NC_000023.10:g.49088171G>A | - | C1845407 300476 Cone-rod dystrophy X-linked 3; C1848172 300071 Congenital stationary night blindness, type 2A | | |
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