ORPHA:664377
MGP-related spondyloepiphyseal dysplasia
Synonyms: MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MGP-related spondyloepiphyseal dysplasia | MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome |
| fr | Dysplasie spondylo-épiphysaire liée à MGP | |
| de | Dysplasie, spondyloepiphysäre, MGP-assoziierte | MGP-abhängige SED · Spondyloepiphysäre Dysplasie-Platyspondylie-Brachytelephalangie-Syndrom |
| es | Displasia espondiloepifisaria asociada al gen MGP | DEE asociada al gen MGP · Síndrome de displasia espondiloepifisaria-platispondilia-braquitelefalangismo |
| it | Displasia spondiloepifisaria correlata a MGP | DSE correlata a MGP · Sindrome displasia spondiloepifisaria-platispondilia-brachitelefalangia |
| nl | MGP-gerelateerde spondylo-epifysaire dysplasie | MGP-gerelateerde SED · Spondylo-epifysaire dysplasie - platyspondylie - brachytelefalangisme-syndroom |
| pt | Displasia espondiloepifisária MGP-relacionada | SED MGP-relacionada · Síndrome de displasia espondiloepifisária-platispondilia-braquitelefalangismo |
| pl | Dysplazja kręgowo-nasadowa związana z MGP | = en |
| cs | MGP-asociovaná spondyloepifyzární dysplazie | = en |
| uk | Спондилоепіфізарна дисплазія, повязана з MGP | SED, повязана з MGP · Синдром спондилоепіфізарної дисплазії-платиспондило-брахітелефалангізму |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | attributed | validated |
| MONDO | 0971093 | E | validated | |
| MONDO | 971093 | E | validated | |
| UMLS | C5925072 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MGP | Disease-causing germline mutation(s) in | Assessed | HGNC:7060 | ENSG00000111341 | 154870 | 12p12.3 | matrix Gla protein | 37923733[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/664377
- This record as JSON: /data/d/664377.json