Progressive cone dystrophy
Synonyms: Cone dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive cone dystrophy | Cone dystrophy |
| fr | Dystrophie progressive des cônes | Dystrophie des cônes |
| de | Zapfendystrophie, progressive | Zapfendystrophie |
| es | Distrofia progresiva de conos | Distrofia de conos |
| it | Distrofia progressiva dei coni | Distrofie dei coni |
| nl | Progressieve kegeldystrofie | Kegeldystrofie |
| pt | Distrofia dos cones progressiva | Distrofia dos cones de início tardio, forma dominante |
| pl | Postępująca dystrofia czopków | Dystrofia stożka |
| cs | Progresivní dystrofie čípků | Dystrofie čípků |
| uk | Прогресуюча колбочкова дистрофія | Конусоподібна дистрофія |
| zh | 进行性视锥细胞营养不良 | 锥体营养不良 |
| tr | İlerleyici koni distrofisi | Koni distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180020 | BTNT | validated | |
| OMIM | 300085 | BTNT | validated | |
| OMIM | 304030 | BTNT | validated | |
| OMIM | 602093 | BTNT | validated | |
| OMIM | 613093 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 455 | E | validated | |
| UMLS | C3665342 | E | validated | |
| GARD | 11897 | E | validated | |
| MedDRA | 10083940 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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
No children.
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CNGB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2153 | ENSG00000170289 | 605080 | 8q21.3 | cyclic nucleotide gated channel subunit beta 3 | 15161866[PMID] |
| GNAT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4394 | ENSG00000134183 | 139340 | 1p13.3 | G protein subunit alpha transducin 2 | 14609822[PMID] |
| GUCA1A | Disease-causing germline mutation(s) in | Assessed | HGNC:4678 | ENSG00000048545 | 600364 | 6p21.1 | guanylate cyclase activator 1A | 9425234[PMID]_15735604[PMID] |
| PDE6C | Disease-causing germline mutation(s) in | Assessed | HGNC:8787 | ENSG00000095464 | 600827 | 10q23.33 | phosphodiesterase 6C | 19615668[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000551 | Color vision defect | |
| HP:0000613 | Photophobia | |
| HP:0000505 | Visual impairment | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1871
- This record as JSON: /data/d/1871.json