Multiple epiphyseal dysplasia type 7
Synonyms: CANT1-related multiple epiphyseal dysplasia · EDM7 · MED7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare multiple epiphyseal dysplasia characterized by mild short stature, joint pain and early-onset osteoarthropathy, frequently requiring joint replacement. Radiographs from affected individuals may manifest features typical of Desbuquois dysplasia, including irregularly shaped capital femoral epiphyses, a short femoral neck (resembles the ''Swedish key'' appearance of the proximal femur) and advanced carpal ossification in the hands. However, some other features typical of Desbuquois dysplasia like joint dislocations, scoliosis, coronal clefts, or other hand anomalies including accessory ossification centers and/or delta phalanx are not observed. Anterior wedging of vertebral bodies, small epiphyses at the knees with metaphyseal flare may be present. Patients have normal metacarpal and phalangeal lengths, no distinctive facies nor neurologic complications.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple epiphyseal dysplasia type 7 | CANT1-related multiple epiphyseal dysplasia · EDM7 · MED7 |
| fr | Dysplasie épiphysaire multiple type 7 | Dysplasie épiphysaire multiple liée à CANT1 |
| de | Dysplasie, epiphysäre multiple, Typ 7 | Dysplasie, epiphysäre multiple, CANT1-assoziierte · EDM7 · MED7 |
| es | Displasia epifisaria múltiple tipo 7 | Displasia epifisaria múltiple asociada al gen CANT1 · EDM7 · MED7 |
| it | Displasia epifisaria multipla tipo 7 | Displasia epifisaria multipla correlata a CANT1 · EDM7 · MED7 |
| nl | Multipele epifysaire dysplasie type 7 | CANT1-gerelateerde multipele epifysaire dysplasie · EDM7 · MED7 |
| pt | Displasia epifisária múltipla tipo 7 | Displasia epifisária múltipla CANT1-relacionada · EDM7 · MED7 |
| pl | Dysplazja wielonasadowa typu 7 | = en |
| cs | Mnohočetná epifyzární dysplázie, typ 7 | = en |
| uk | Множинна епіфізарна дисплазія, тип 7 | CANT1-асоційована множинна епіфізарна дисплазія · EDM7 · MED7 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617719 | E | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.61 | NTBT | attributed | validated |
| MONDO | 0054680 | E | validated | |
| UMLS | C4540251 | 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 |
|---|---|---|---|---|---|---|---|---|
| CANT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19721 | ENSG00000171302 | 613165 | 17q25.3 | calcium activated nucleotidase 1 | 28742282[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 28742282[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28742282[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/647676
- This record as JSON: /data/d/647676.json