ORPHA:93283
Spondyloepiphyseal dysplasia, Kimberley type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepiphyseal dysplasia, Kimberley type | |
| fr | Dysplasie spondylo-épiphysaire type Kimberley | |
| de | Dysplasie, spondyloepiphysäre, Typ Kimberley | |
| es | Displasia espondiloepifisaria tipo Kimberley | |
| it | Displasia spondiloepifisaria, tipo Kimberley | |
| nl | Spondylo-epifysaire dysplasie, Kimberley-type | |
| pt | Displasia espondiloepifisária, tipo Kimberley | |
| pl | Dysplazja kręgowo-nasadowa typu Kimberley | |
| cs | Spondeloepifyzární dysplázie, typ Kimberley | |
| uk | Спондилоепіфізарна дисплазія, тип Кімберлі | |
| zh | 脊椎骨骺发育不良，Kimberley 型 | |
| tr | Spondiloepifizyal displazi, Kimberley tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608361 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0012019 | E | validated | |
| MeSH | C564252 | E | validated | |
| UMLS | C1842149 | 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:674499Proteoglycan-related bone disorder
rare genetic diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACAN | Disease-causing germline mutation(s) in | Assessed | HGNC:319 | ENSG00000157766 | 155760 | 15q26.1 | aggrecan | 16080123[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 1978986[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002983 | Micromelia | |
| HP:0002758 | Osteoarthritis | |
| HP:0000926 | Platyspondyly | |
| HP:0003508 | Proportionate short stature | |
| HP:0010306 | Short thorax | |
| HP:0002655 | Spondyloepiphyseal dysplasia | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93283
- This record as JSON: /data/d/93283.json