ORPHA:468717
Rhizomelic chondrodysplasia punctata type 5
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Rhizomelic chondrodysplasia punctata
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rhizomelic chondrodysplasia punctata type 5 | |
| fr | Chondrodysplasie ponctuée rhizomélique type 5 | |
| de | Chondrodysplasia punctata, rhizomele, Typ 5 | |
| es | Condrodisplasia punctata rizomélica tipo 5 | |
| it | Condrodisplasia puntata rizomelica tipo 5 | |
| nl | Rhizomele chondrodysplasia punctata type 5 | |
| pt | Condrodisplasia pontuada rizomélica tipo 5 | |
| pl | Rizomeliczna chondrodysplazja punktowa typu 5 | |
| cs | Rhizomelická chondrodysplasia punctata, typ 5 | |
| uk | Різомелінова точкова хондродисплазія, тип 5 | |
| zh | 根状软骨部分发育不良5型 | |
| tr | Rizomelik kondrodisplazi punktata tip 5 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616716 | E | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.04 | NTBT | attributed | validated |
| MONDO | 0014743 | E | validated | |
| UMLS | C4225237 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:177Rhizomelic chondrodysplasia punctata
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PEX5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9719 | ENSG00000139197 | 600414 | 12p13.31 | peroxisomal biogenesis factor 5 | 26220973[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 26220973[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26220973[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.
6
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/468717
- This record as JSON: /data/d/468717.json