ORPHA:180
Choroideremia
Synonyms: CHM · Tapetochoroidal dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Choroideremia | CHM · Tapetochoroidal dystrophy |
| fr | Choroïdérémie | CHM |
| de | Chorioideremie | CHM · Dystrophie, tapetochoroidale |
| es | Coroideremia | CHM · Distrofia tapetocoroidal |
| it | Coroideremia | CHM · Distrofia del tappeto della coroide |
| nl | Choroïderemie | CHM · Tapetochoroïdale dystrofie |
| pt | Coroideremia | |
| pl | Choroideremia | CHM |
| cs | Choroiderémie | CHM · Tapetochoroidální dystrofie |
| uk | Хороїдеремія | CHM · Тапетохороїдальна дистрофія |
| zh | 无脉络膜症 | 脉络膜毯层营养不良 |
| tr | Koroideremi | CHM · Tapetokoroidal distrofi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 303100 | E | validated | |
| ICD-10 | H31.2 | NTBT | inclusion | validated |
| ICD-11 | 9B61 | NTBT | index | validated |
| MONDO | 0010557 | E | validated | |
| MeSH | D015794 | E | validated | |
| UMLS | C0008525 | E | validated | |
| GARD | 6061 | E | validated | |
| MedDRA | 10008791 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:717317Rare genetic isolated progressive predominantly chorioretinal disorder
rare genetic diseases - ORPHA:716348Rare isolated progressive predominantly chorioretinal disorder
rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHM | Disease-causing germline mutation(s) in | Assessed | HGNC:1940 | ENSG00000188419 | 300390 | Xq21.2 | CHM Rab escort protein |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2014[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
15 annotations · validated 2024-06-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000545 | Myopia | |
| HP:0000662 | Nyctalopia | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0001139 | Choroideremia | |
| HP:0001133 | Constriction of peripheral visual field | |
| HP:0007994 | Peripheral visual field loss | |
| HP:0000529 | Progressive visual loss | |
| Occasional (29-5%) | ||
| HP:0030602 | Abnormal fundus autofluorescence imaging | |
| HP:0000533 | Chorioretinal atrophy | |
| HP:0011506 | Choroidal neovascularization | |
| HP:0000551 | Color vision defect | |
| HP:0040049 | Macular edema | |
| HP:0007787 | Posterior subcapsular cataract | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 30627697[PMID]_20301511[PMID]_31819346[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/180
- This record as JSON: /data/d/180.json