Multiple epiphyseal dysplasia type 1
Synonyms: EDM1 · MED1 · Polyepiphyseal dysplasia type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple epiphyseal dysplasia type 1 | EDM1 · MED1 · Polyepiphyseal dysplasia type 1 |
| fr | Dysplasie épiphysaire multiple type 1 | Dysplasie polyépiphysaire type 1 |
| de | Dysplasie, epiphysäre multiple, Typ 1 | EDM1 · MED1 |
| es | Displasia epifisaria múltiple tipo 1 | Displasia poliepifisaria tipo 1 · EDM1 · MED1 |
| it | Displasia epifisaria multipla, tipo 1 | Displasia poliepifisaria, tipo 1 · EDM1 · MED1 |
| nl | Multipele epifysaire dysplasie type 1 | EDM1 · MED1 · Meervoudige epifysaire dysplasie type 1 · Polyepifysaire dysplasie type 1 |
| pt | Displasia epifisária múltipla, tipo 1 | |
| pl | Dysplazja wielonasadowa typu 1 | Dysplazja wielonasadowa typu 1 · EDM1 · MED1 |
| cs | Mnohočetná epifyzární dysplázie, typ 1 | EDM1 · MED1 · Polyepifyzární dysplázie, typ 1 |
| uk | Множинна епіфізарна дисплазія, тип 1 | EDM1 · MED1 · Поліепіфізарна дисплазія типу 1 |
| zh | 多发性骨骺发育不良1型 | 多发性骨骺发育不良1型 |
| tr | Çoklu epifizyal displazi tip 1 | EDM1 · MED1 · Poliepifizyal displazi tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 132400 | E | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.61 | NTBT | index | validated |
| MONDO | 0007561 | E | validated | |
| MeSH | C535501 | E | validated | |
| UMLS | C1838280 | E | validated | |
| GARD | 2180 | 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 |
|---|---|---|---|---|---|---|---|---|
| COMP | Disease-causing germline mutation(s) in | Assessed | HGNC:2227 | ENSG00000105664 | 600310 | 19p13.11 | cartilage oligomeric matrix protein | 20301302[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_18328978[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
21 annotations · validated 2020-09-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003365 | Arthralgia of the hip | |
| HP:0001288 | Gait disturbance | |
| HP:0001385 | Hip dysplasia | |
| HP:0030839 | Knee pain | |
| HP:0030973 | Postexertional malaise | |
| HP:0003026 | Short long bone | |
| Occasional (29-5%) | ||
| HP:0003170 | Abnormality of the acetabulum | |
| HP:0030840 | Ankle pain | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0003498 | Disproportionate short stature | |
| HP:0006094 | Finger joint hypermobility | |
| HP:0001387 | Joint stiffness | |
| HP:0045086 | Knee joint hypermobility | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002758 | Osteoarthritis | |
| HP:0002515 | Waddling gait | |
| Very rare (<4-1%) | ||
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0002812 | Coxa vara | |
| HP:0002857 | Genu valgum | |
| HP:0002970 | Genu varum | |
| Excluded (0%) | ||
| HP:0001156 | Brachydactyly | |
Annotation source: 32633442[PMID]_20301302[PMID]_29530484[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93308
- This record as JSON: /data/d/93308.json