Multiple epiphyseal dysplasia due to collagen 9 anomaly
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple epiphyseal dysplasia due to collagen 9 anomaly | |
| fr | Dysplasie épiphysaire multiple due à une anomalie du collagène 9 | |
| de | Dysplasie, epiphysäre multiple, durch Kollagen 9-Anomalie | |
| es | Displasia epifisaria múltiple por anomalía del colágeno 9 | |
| it | Displasia epifisaria multipla da anomalia del collagene 9 | |
| nl | Multipele epifysaire dysplasie door collageen 9-anomalie | Meervoudige epifysaire dysplasie door collageen 9-anomalie |
| pt | Displasia epifisária múltipla por anomalia no colagénio 9 | |
| pl | Dysplazja wielonasadowa z powodu anomalii kolagenu 9 | |
| cs | Mnohočetná epifyzární dysplázie způsobená anomálií kolagenu 9 | |
| uk | Множинна епіфізарна дисплазія внаслідок аномалії колагену 9 | |
| zh | 9型胶原异常所致多发性骨骺发育不良 | |
| tr | Kollajen 9 anomalisine bağlı çoklu epifiz displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600204 | BTNT | validated | |
| OMIM | 600969 | BTNT | validated | |
| OMIM | 614135 | BTNT | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.61 | NTBT | index | validated |
| MONDO | 0015627 | E | validated | |
| UMLS | C4707798 | 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:251Multiple epiphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL9A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2217 | ENSG00000112280 | 120210 | 6q13 | collagen type IX alpha 1 chain | 20301302[PMID] |
| COL9A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2218 | ENSG00000049089 | 120260 | 1p34.2 | collagen type IX alpha 2 chain | 20301302[PMID] |
| COL9A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2219 | ENSG00000092758 | 120270 | 20q13.33 | collagen type IX alpha 3 chain | 20301302[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 59 cases | Worldwide | Case(s) | Validated | 11565064[PMID]_11200990[PMID]_10655510[PMID]_20358595[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 11565064[PMID]_11200990[PMID]_10655510[PMID]_20358595[PMID]_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.
HPO phenotypes
24 annotations · validated 2020-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| Frequent (79-30%) | ||
| HP:0003365 | Arthralgia of the hip | |
| HP:0030839 | Knee pain | |
| HP:0009826 | Limb undergrowth | |
| HP:0030973 | Postexertional malaise | |
| HP:0012770 | Reduced arm span | |
| Occasional (29-5%) | ||
| HP:0003045 | Abnormal patella morphology | |
| HP:0003999 | Abnormality of radial epiphyses | |
| HP:0003028 | Abnormality of the ankles | |
| HP:0003946 | Abnormality of the epiphyses of the elbow | |
| HP:0010631 | Abnormality of the epiphyses of the feet | |
| HP:0002815 | Abnormality of the knee | |
| HP:0010665 | Bilateral coxa valga | |
| HP:0002812 | Coxa vara | |
| HP:0009189 | Fragmentation of the metacarpal epiphyses | |
| HP:0002857 | Genu valgum | |
| HP:0002970 | Genu varum | |
| HP:0002758 | Osteoarthritis | |
| HP:0006190 | Radially deviated wrists | |
| HP:0004322 | Short stature | |
| HP:0006055 | Ulnar deviated club hands | |
| HP:0002515 | Waddling gait | |
| Very rare (<4-1%) | ||
| HP:0001324 | Muscle weakness | |
| HP:0003198 | Myopathy | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20358595[PMID]_16440132[PMID]_20301302[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166002
- This record as JSON: /data/d/166002.json