Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Synonyms: Noble-Bass-Sherman syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectopia lentis-chorioretinal dystrophy-myopia syndrome | Noble-Bass-Sherman syndrome |
| fr | Syndrome d'ectopie du cristallin-dystrophie choriorétinienne-myopie | Syndrome de Noble-Bass-Sherman |
| de | Ectopia lentis-chorioretinale Dystrophie-Myopie-Syndrom | Noble-Bass-Sherman-Syndrom |
| es | Síndrome de ectopia de cristalino-distrofia corioretinana-miopía | Síndrome de Noble-Bass-Sherman |
| it | Sindrome da ectopia del cristallino-distrofia corioretinca-miopia | Sindrome di Noble-Bass-Sherman |
| nl | Ectopia lentis - chorioretinale dystrofie - myopie-syndroom | Syndroom van Noble-Bass-Sherman |
| pt | Síndrome de ectopia do cristalino-distrofia corio-retiniana-miopia | Síndrome Noble-Bass-Sherman |
| pl | Ektopia soczewki - dystrofia błony naczyniowej i siatkówki - miopia | Zespół Noble'a, Bassa i Shermana |
| cs | Syndrom zahrnující ektopii čočky, chorioretinální dystrofii a myopii | Nobleho-Bassův-Shermanův syndrom · Noble-Bass-Shermanův syndrom |
| uk | Синдром ектопії кришталика-хоріоретинальної дистрофії-міопії | Синдром Ноубла-Басса-Шермана |
| zh | 晶状体脱位-脉络膜视网膜营养不良-近视综合征 | Noble-Bass-Sherman综合征 |
| tr | Ektopia lentis-korioretinal distrofi-miyopi sendromu | Noble-Bass-Sherman sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q15.8 | NTBT | attributed | validated |
| ICD-11 | LA12.Y | NTBT | index | validated |
| MONDO | 0015997 | E | validated | |
| MeSH | C536124 | E | validated | |
| UMLS | C2931115 | E | validated | |
| GARD | 3999 | 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 (5):
- ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:716299Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
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 | 8 cases | Worldwide | Case(s) | Validated | 8334934[PMID]_10420198[PMID]_12049599[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8334934[PMID]_10420198[PMID]_12049599[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1884
- This record as JSON: /data/d/1884.json