Chondrodysplasia with joint dislocations, gPAPP type
Synonyms: gPAPP deficiency
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chondrodysplasia with joint dislocations, gPAPP type | gPAPP deficiency |
| fr | Chondrodysplasie avec luxation articulaire type gPAPP | Déficit en gPAPP |
| de | Chondrodysplasie mit Gelenkkontrakturen, gPAPP-Typ | gPAPP-Mangel |
| es | Condrodisplasia con luxaciones articulares, tipo gPAPP | Deficiencia de gPAPP |
| it | Condrodisplasia con dislocazioni articolari, tipo gPAPP | Deficit di gPAPP |
| nl | Chondrodysplasie met gewrichtsluxaties, gPAPP-type | gPAPP-deficiëntie |
| pt | Condrodisplasia com luxações articulares, tipo gPAPP | Deficiência de gPAPP |
| pl | Chondrodysplazja z przemieszczeniem stawów, typ gPAPP | Niedobór gPAPP |
| cs | Chondrodysplázie s dislokací kloubů, typ gPAPP | Deficit gPAPP |
| uk | Хондродисплазія з вивихами суглобів, тип gPAPP | дефіцит gPAPP |
| zh | 软骨发育异常伴关节脱位gPAPP型 | gPAPP缺乏症 |
| tr | Eklem çıkıkları ile seyreden kondrodisplazi, gPAPP tipi | gPAPP eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614078 | E | validated | |
| ICD-10 | Q79.8 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | attributed | validated |
| MONDO | 0013561 | E | validated | |
| UMLS | C3279757 | E | validated | |
| GARD | 11009 | 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:93441Primary bone dysplasia with multiple joint dislocations
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 |
|---|---|---|---|---|---|---|---|---|
| BPNT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:26019 | ENSG00000104331 | 614010 | 8q12.1 | 3'(2'), 5'-bisphosphate nucleotidase 2 | 21549340[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 21549340[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/280586
- This record as JSON: /data/d/280586.json