ORPHA:90654
Stickler syndrome type 2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
This disease is described under Stickler syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Stickler syndrome type 2 | |
| fr | Syndrome de Stickler type 2 | |
| de | Stickler-Syndrom Typ 2 | |
| es | Síndrome de Stickler tipo 2 | |
| it | Sindrome di Stickler, tipo 2 | |
| nl | Syndroom van Stickler type 2 | |
| pt | Síndrome de Stickler tipo 2 | |
| pl | Zespół Sticklera typu 2 | |
| cs | Sticklerův syndrom, typ 2 | STL2 |
| uk | Синдром Стіклера, тип 2 | |
| zh | Stickler综合征2型 | |
| tr | Stickler sendromu tip 2 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604841 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0011493 | E | validated | |
| MeSH | C537493 | E | validated | |
| UMLS | C1858084 | 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:98648Musculoskeletal disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:828Stickler syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:93422Type 11 collagen-related bone disorder
rare genetic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BMP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:1071 | ENSG00000125378 | 112262 | 14q22.2 | bone morphogenetic protein 4 | 30568244[PMID] |
| COL11A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2186 | ENSG00000060718 | 120280 | 1p21.1 | collagen type XI alpha 1 chain |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004327 | Abnormal vitreous humor morphology | |
| HP:0000518 | Cataract | |
| HP:0007957 | Corneal opacity | |
| HP:0000545 | Myopia | |
| HP:0000541 | Retinal detachment | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000488 | Retinopathy | |
| HP:6000015 | Tympanic membrane hypermobility | |
Run the differential on the 6 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90654
- This record as JSON: /data/d/90654.json