Multiple epiphyseal dysplasia type 5
Synonyms: BHMED · Bilateral hereditary micro-epiphyseal dysplasia · EDM5 · MED5 · Polyepiphyseal dysplasia type 5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple epiphyseal dysplasia type 5 | BHMED · Bilateral hereditary micro-epiphyseal dysplasia · EDM5 · MED5 · Polyepiphyseal dysplasia type 5 |
| fr | Dysplasie épiphysaire multiple type 5 | Dysplasie polyépiphysaire type 5 |
| de | Dysplasie, epiphysäre multiple, Typ 5 | BHMED · Bilaterale hereditäre mikro-epiphysäre Dysplasie · Dysplasie, polyepiphysäre, Typ 5 · EDM5 · MED5 |
| es | Displasia epifisaria múltiple tipo 5 | BHMED · Displasia micro-epifisaria hereditaria bilateral · Displasia poliepifisaria tipo 5 · EDM5 · MED5 |
| it | Displasia epifisaria multipla, tipo 5 | Displasia poliepifisaria, tipo 5 · EDM5 · MED5 |
| nl | Multipele epifysaire dysplasie type 5 | BHMED · Bilaterale hereditaire micro-epifysaire dysplasie · EDM5 · MED5 · Meervoudige epifysaire dysplasie type 5 · Polyepifysaire dysplasie type 5 |
| pt | Displasia epifisária múltipla, tipo 5 | |
| pl | Dysplazja wielonasadowa typu 5 | EDM5 · MED5 · BHMED |
| cs | Mnohočetná epifyzární dysplázie, typ 5 | EDM5 · MED5 · Polyepifyzární dysplázie, typ 5 |
| uk | Множинна епіфізарна дисплазія, тип 5 | BHMED · Двостороння спадкова мікроепіфізарна дисплазія · EDM5 · MED5 · Поліепіфізарна дисплазія типу 5 |
| zh | 多发性骨骺发育不良5型 | 双侧遗传性微骨骺发育不良 |
| tr | Çoklu epifizyal displazi tip 5 | EDM5 · MED5 · BHMED · Poliepifizyal displazi tip 5 · Bilateral kalıtsal mikro-epifizyal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607078 | E | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.61 | NTBT | index | validated |
| MONDO | 0011765 | E | validated | |
| MeSH | C535505 | E | validated | |
| UMLS | C1846843 | E | validated | |
| GARD | 9794 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MATN3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6909 | ENSG00000132031 | 602109 | 2p24.1 | matrilin 3 | 20301302[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 families | Worldwide | Family(ies) | Validated | 15948199[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15948199[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
23 annotations · validated 2020-09-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008828 | Delayed proximal femoral epiphyseal ossification | |
| HP:0001385 | Hip dysplasia | |
| Frequent (79-30%) | ||
| HP:0010631 | Abnormality of the epiphyses of the feet | |
| HP:0001384 | Abnormality of the hip joint | |
| HP:0003839 | Abnormality of upper limb epiphysis morphology | |
| HP:0001288 | Gait disturbance | |
| HP:0002857 | Genu valgum | |
| HP:0002970 | Genu varum | |
| HP:0030839 | Knee pain | |
| HP:0003502 | Mild short stature | |
| HP:0003088 | Premature osteoarthritis | |
| Occasional (29-5%) | ||
| HP:0003170 | Abnormality of the acetabulum | |
| HP:0030840 | Ankle pain | |
| HP:0003365 | Arthralgia of the hip | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0003184 | Decreased hip abduction | |
| HP:0001288 | Gait disturbance | |
| HP:0008419 | Intervertebral disc degeneration | |
| HP:0001387 | Joint stiffness | |
| HP:0008800 | Limited hip movement | |
| HP:0005877 | Multiple small vertebral fractures | |
| HP:0004268 | Osteoarthritis of the small joints of the hand | |
| Very rare (<4-1%) | ||
| HP:0003418 | Back pain | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 14994237[PMID]_24629099[PMID]_20301302[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93311
- This record as JSON: /data/d/93311.json