Retinal degeneration-nanophthalmos-glaucoma syndrome
historical
Synonyms: Mackay-Shek-Carr syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- historical
Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retinal degeneration-nanophthalmos-glaucoma syndrome | Mackay-Shek-Carr syndrome |
| fr | Syndrome de dégénérescence rétinienne-microphtalmie-glaucome | Syndrome de Mackay-Shek-Carr |
| de | Netzhautdegeneration-Nanophthalmie-Glaukom-Syndrom | Mackay-Shek-Carr-Syndrom |
| es | Síndrome de degeneración retiniana-nanoftalmia-glaucoma | Síndrome de Mackay-Shek-Carr |
| it | Degenerazione retinica - microftalmia - glaucoma | Sindrome di Mackay-Shek-Carr |
| nl | Retinadegeneratie - nanoftalmie - glaucoom-syndroom | Syndroom van Mackay-Shek-Carr |
| pt | Síndrome de degenerescência retiniana-nanoftalmia-glaucoma | Síndrome Mackay-Shek-Carr |
| pl | Zwyrodnienie siatkówki - nanoftalmia - jaskra | Zespół Mackay'a, Sheka i Carra |
| cs | Syndrom zahrnující retinální degeneraci, nanoftalmus a glaukom | Mackayové-Shekův-Carrův syndrom · Mackay-Shek-Carrův syndrom |
| uk | Синдром дегенерації сітківки - наноофтальмос-глаукома | Синдром Маккея-Шека-Карра |
| zh | 视网膜变性-小眼-青光眼综合征 | Mackay-Shek-Carr综合征 |
| tr | Retinal dejenerasyon-nanoftalmos-glokom sendromu | Mackay-Shek-Carr sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 267760 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9E1Y | NTBT | index | validated |
| MONDO | 0009978 | E | validated | |
| MeSH | C538364 | E | validated | |
| UMLS | C2931831 | E | validated | |
| GARD | 395 | 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 (1):
- ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 3827713[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3827713[PMID] |
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
7 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:0000568 | Microphthalmia | |
| HP:0000545 | Myopia | |
| HP:0000648 | Optic atrophy | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000639 | Nystagmus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1574
- This record as JSON: /data/d/1574.json