ORPHA:1872
Cone rod dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cone rod dystrophy | |
| fr | Dystrophie des cônes et des bâtonnets | Dystrophie cone-rod · Dystrophie mixte cônes-bâtonnets · Dystrophie à cônes prédominants |
| de | Zapfen-Stäbchen-Dystrophie | |
| es | Distrofia de conos y bastones | |
| it | Distrofia dei coni e dei bastoncelli | |
| nl | Kegel-staafdystrofie | |
| pt | Distrofia dos cones e bastonetes | |
| pl | Dystrofia czopków i pręcików | |
| cs | Dystrofie čípků a tyčinek | |
| uk | Дистрофія конусних стрижнів | |
| zh | 遗传性视锥视杆细胞营养不良 | |
| tr | Koni çubuk distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 120970 | E | validated | |
| OMIM | 300476 | BTNT | validated | |
| OMIM | 300834 | BTNT | validated | |
| OMIM | 303700 | NTBT | validated | |
| OMIM | 304020 | BTNT | validated | |
| OMIM | 600624 | BTNT | validated | |
| OMIM | 600977 | BTNT | validated | |
| OMIM | 601777 | BTNT | validated | |
| OMIM | 602093 | NTBT | validated | |
| OMIM | 603649 | BTNT | validated | |
| OMIM | 604116 | BTNT | validated | |
| OMIM | 604393 | NTBT | validated | |
| OMIM | 605549 | BTNT | validated | |
| OMIM | 608194 | BTNT | validated | |
| OMIM | 610283 | BTNT | validated | |
| OMIM | 610381 | BTNT | validated | |
| OMIM | 610478 | BTNT | validated | |
| OMIM | 612657 | BTNT | validated | |
| OMIM | 612775 | BTNT | validated | |
| OMIM | 613660 | BTNT | validated | |
| OMIM | 614500 | BTNT | validated | |
| OMIM | 615163 | BTNT | validated | |
| OMIM | 615374 | BTNT | validated | |
| OMIM | 615860 | BTNT | validated | |
| OMIM | 615973 | BTNT | validated | |
| OMIM | 616170 | BTNT | validated | |
| OMIM | 616502 | BTNT | validated | |
| OMIM | 618555 | BTNT | validated | |
| OMIM | 619531 | BTNT | validated | |
| OMIM | 620342 | BTNT | validated | |
| OMIM | 621558 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0015993 | E | validated | |
| MeSH | D000071700 | E | validated | |
| UMLS | C4085590 | E | validated | |
| GARD | 10790 | E | validated | |
| MedDRA | 10085521 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:717324Rare genetic isolated progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders - ORPHA:156171Retinal ciliopathy due to mutation in the RPGR gene
rare genetic diseases - ORPHA:156174Retinal ciliopathy due to mutation in the RPGRIP gene
rare genetic diseases
No children.
4
Genes
33 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AIPL1 | Candidate gene tested in | Not yet assessed | HGNC:359 | ENSG00000129221 | 604392 | 17p13.2 | AIP like 1 HSP90 co-chaperone | 10873396[PMID] |
| DRAM2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28769 | ENSG00000156171 | 613360 | 1p13.3 | DNA damage regulated autophagy modulator 2 | 25983245[PMID] |
| POC1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30836 | ENSG00000139323 | 614784 | 12q21.33 | POC1 centriolar protein B | 25018096[PMID] |
| TLCD3B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25295 | ENSG00000149926 | 615175 | 16p11.2 | TLC domain containing 3B | 33077892[PMID] |
| TTLL5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19963 | ENSG00000119685 | 612268 | 14q24.3 | tubulin tyrosine ligase like 5 | 24791901[PMID] |
| ABCA4 | Disease-causing germline mutation(s) in | Assessed | HGNC:34 | ENSG00000198691 | 601691 | 1p22.1 | ATP binding cassette subfamily A member 4 | 10958761[PMID]_23776498[PMID]_26992781[PMID] |
| ADAM9 | Disease-causing germline mutation(s) in | Assessed | HGNC:216 | ENSG00000168615 | 602713 | 8p11.22 | ADAM metallopeptidase domain 9 | 19409519[PMID] |
| ATF6 | Disease-causing germline mutation(s) in | Assessed | HGNC:791 | ENSG00000118217 | 605537 | 1q23.3 | activating transcription factor 6 | 28479318[PMID] |
| CACNA1F | Disease-causing germline mutation(s) in | Assessed | HGNC:1393 | ENSG00000102001 | 300110 | Xp11.23 | calcium voltage-gated channel subunit alpha1 F | 16505158[PMID]_26992781[PMID] |
| CACNA2D4 | Disease-causing germline mutation(s) in | Assessed | HGNC:20202 | ENSG00000151062 | 608171 | 12p13.33 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | 17033974[PMID] |
| CDHR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14550 | ENSG00000148600 | 609502 | 10q23.1 | cadherin related family member 1 | 20805371[PMID] |
| CFAP410 | Disease-causing germline mutation(s) in | Assessed | HGNC:1260 | ENSG00000160226 | 603191 | 21q22.3 | cilia and flagella associated protein 410 | 23105016[PMID] |
| CFAP418 | Disease-causing germline mutation(s) in | Assessed | HGNC:27232 | ENSG00000156172 | 614477 | 8q22.1 | cilia and flagella associated protein 418 | 22177090[PMID] |
| CNGA3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2150 | ENSG00000144191 | 600053 | 2q11.2 | cyclic nucleotide gated channel subunit alpha 3 | 25052312[PMID] |
| CRX | Disease-causing germline mutation(s) in | Assessed | HGNC:2383 | ENSG00000105392 | 602225 | 19q13.33 | cone-rod homeobox | 26682157[PMID]_26992781[PMID] |
| FSD1L | Disease-causing germline mutation(s) in | Assessed | HGNC:13753 | 9q31.2 | fibronectin type III and SPRY domain containing 1 like | 41742423[PMID] | ||
| GUCA1A | Disease-causing germline mutation(s) in | Assessed | HGNC:4678 | ENSG00000048545 | 600364 | 6p21.1 | guanylate cyclase activator 1A | 23428504[PMID]_26992781[PMID] |
| GUCY2D | Disease-causing germline mutation(s) in | Assessed | HGNC:4689 | ENSG00000132518 | 600179 | 17p13.1 | guanylate cyclase 2D, retinal | 20517349[PMID]_26992781[PMID] |
| MFSD8 | Disease-causing germline mutation(s) in | Assessed | HGNC:28486 | ENSG00000164073 | 611124 | 4q28.2 | major facilitator superfamily domain containing 8 | 25227500[PMID] |
| NMNAT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17877 | ENSG00000173614 | 608700 | 1p36.22 | nicotinamide nucleotide adenylyltransferase 1 | 28369829[PMID] |
| OPN1LW | Disease-causing germline mutation(s) in | Assessed | HGNC:9936 | ENSG00000102076 | 300822 | Xq28 | opsin 1, long wave sensitive | 20579627[PMID] |
| OPN1MW | Disease-causing germline mutation(s) in | Assessed | HGNC:4206 | ENSG00000268221 | 300821 | Xq28 | opsin 1, medium wave sensitive | 20579627[PMID] |
| PITPNM3 | Disease-causing germline mutation(s) in | Assessed | HGNC:21043 | ENSG00000091622 | 608921 | 17p13.2-p13.1 | PITPNM family member 3 | 17377520[PMID] |
| PROM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9454 | ENSG00000007062 | 604365 | 4p15.32 | prominin 1 | 19718270[PMID] |
| PRPH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9942 | ENSG00000112619 | 179605 | 6p21.1 | peripherin 2 | 9279751[PMID]_23563732[PMID] |
| RAB28 | Disease-causing germline mutation(s) in | Assessed | HGNC:9768 | ENSG00000157869 | 612994 | 4p15.33 | RAB28, member RAS oncogene family | 23746546[PMID] |
| RAX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18286 | ENSG00000173976 | 610362 | 19p13.3 | retina and anterior neural fold homeobox 2 | 15028672[PMID]_25789692[PMID] |
| RIMS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17282 | ENSG00000079841 | 606629 | 6q13 | regulating synaptic membrane exocytosis 1 | 12659814[PMID] |
| RPGR | Disease-causing germline mutation(s) in | Assessed | HGNC:10295 | ENSG00000156313 | 312610 | Xp11.4 | retinitis pigmentosa GTPase regulator | 11857109[PMID]_23776498[PMID] |
| RPGRIP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13436 | ENSG00000092200 | 605446 | 14q11.2 | RPGR interacting protein 1 | 12920076[PMID]_26992781[PMID] |
| SEMA4A | Disease-causing germline mutation(s) in | Assessed | HGNC:10729 | ENSG00000196189 | 607292 | 1q22 | semaphorin 4A | 16199541[PMID] |
| UBAP1L | Disease-causing germline mutation(s) in | Assessed | HGNC:40028 | ENSG00000246922 | 15q22.31 | ubiquitin associated protein 1 like | 38420906[PMID] | |
| UNC119 | Disease-causing germline mutation(s) in | Assessed | HGNC:12565 | ENSG00000109103 | 604011 | 17q11.2 | unc-119 lipid binding chaperone | 11006213[PMID]_26992781[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
15 annotations · validated 2024-06-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000662 | Nyctalopia | |
| HP:0000613 | Photophobia | |
| Frequent (79-30%) | ||
| HP:0030466 | Abnormal full-field electroretinogram | |
| HP:0007843 | Attenuation of retinal blood vessels | |
| HP:0007737 | Bone spicule pigmentation of the retina | |
| HP:0000603 | Central scotoma | |
| HP:0000551 | Color vision defect | |
| HP:0007641 | Dyschromatopsia | |
| HP:0000543 | Optic disc pallor | |
| HP:0000529 | Progressive visual loss | |
| HP:0001105 | Retinal atrophy | |
| Occasional (29-5%) | ||
| HP:0012508 | Metamorphopsia | |
| HP:0000639 | Nystagmus | |
| HP:0000505 | Visual impairment | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 38028590[PMID]_38091967[PMID]_17270046[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1872
- This record as JSON: /data/d/1872.json