Upington disease
historical
Synonyms: Hip dysplasia-enchondromata-ecchondroma syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- historical
A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Upington disease | Hip dysplasia-enchondromata-ecchondroma syndrome |
| fr | Maladie d'Upington | Syndrome de dysplasie de la hanche-enchondromatose-ecchondromatose |
| de | Upington-Krankheit | |
| es | Enfermedad de Upington | |
| it | Malattia di Upington | |
| nl | Ziekte van Upington | Heupdysplasie - enchondromata - ecchondroom |
| pt | Doença de Upington | |
| pl | Choroba Upingtona | Dysplazja bioder - enchondroma - ecchondroma |
| cs | Upingtonská nemoc | Syndrom zahrnující kyčelní dysplázii, enchondrom a ekchondrom |
| uk | Хвороба Апінгтона | Синдром дисплазії кульшового суглоба-енхондроми-екхондроми |
| zh | Upington病 | 髋发育不良-内生软骨瘤-外生软骨瘤综合征 |
| tr | Upington hastalığı | Kalça displazisi-enkondromata-ekondroma sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 191520 | E | validated | |
| ICD-10 | Q78.4 | NTBT | attributed | validated |
| ICD-11 | LD24.2Y | NTBT | index | validated |
| MONDO | 0008624 | E | validated | |
| MeSH | C536472 | E | validated | |
| UMLS | C1860596 | E | validated | |
| GARD | 5421 | 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:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 1 families | Worldwide | Family(ies) | Validated | 5316541[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5316541[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
6 annotations · validated 2017-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002829 | Arthralgia | |
| HP:0003365 | Arthralgia of the hip | |
| HP:0006429 | Broad femoral neck | |
| HP:0030038 | Enchondroma | |
| HP:0003370 | Flat capital femoral epiphysis | |
| HP:0010588 | Premature epimetaphyseal fusion | |
Annotation source: 5316541[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3408
- This record as JSON: /data/d/3408.json