ORPHA:90653
Stickler syndrome type 1
- 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 1 | |
| fr | Syndrome de Stickler type 1 | |
| de | Stickler-Syndrom Typ 1 | |
| es | Síndrome de Stickler tipo 1 | |
| it | Sindrome di Stickler, tipo 1 | |
| nl | Syndroom van Stickler type 1 | |
| pt | Síndrome de Stickler tipo 1 | |
| pl | Zespół Sticklera typu 1 | |
| cs | Sticklerův syndrom, typ 1 | STL1 |
| uk | Синдром Стіклера, тип 1 | |
| zh | Stickler综合征1型 | |
| tr | Stickler sendromu tip 1 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108300 | E | validated | |
| OMIM | 609508 | BTNT | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007160 | E | validated | |
| MeSH | C537492 | E | validated | |
| UMLS | C2020284 | 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:93421Type 2 collagen-related bone disorder
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 9800905[PMID]_21671392[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
21 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:0000327 | Hypoplasia of the maxilla | |
| HP:0000343 | Long philtrum | |
| HP:0000545 | Myopia | |
| HP:0000541 | Retinal detachment | |
| HP:0003196 | Short nose | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0100734 | Abnormality of vertebral epiphysis morphology | |
| HP:0002829 | Arthralgia | |
| HP:0000175 | Cleft palate | |
| HP:0001382 | Joint hypermobility | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0002758 | Osteoarthritis | |
| HP:0000926 | Platyspondyly | |
| HP:0000520 | Proptosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:6000015 | Tympanic membrane hypermobility | |
| Occasional (29-5%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0000572 | Visual loss | |
Run the differential on the 8 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90653
- This record as JSON: /data/d/90653.json