Postaxial polydactyly type A
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Postaxial polydactyly type A | |
| fr | Polydactylie post-axiale type A | |
| de | Polydaktylie, postaxiale, Typ A | |
| es | Polidactilia postaxial tipo A | |
| it | Polidattilia postassiale, tipo A | |
| nl | Postaxiale polydactylie type A | |
| pt | Polidactilia pós-axial tipo A | |
| pl | Polidaktylia zaosiowa typu A | |
| cs | Postaxiální polydaktylie, typ A | |
| uk | Постаксіальна полідактилія, тип А | |
| zh | 后端多指趾畸形A型 | |
| tr | Eksenel polidaktili tip A |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174200 | BTNT | validated | |
| OMIM | 263450 | BTNT | validated | |
| OMIM | 602085 | BTNT | validated | |
| OMIM | 607324 | BTNT | validated | |
| OMIM | 608562 | BTNT | validated | |
| OMIM | 615226 | BTNT | validated | |
| OMIM | 617642 | BTNT | validated | |
| OMIM | 618219 | BTNT | validated | |
| OMIM | 618498 | BTNT | validated | |
| ICD-10 | Q69.0 | NTBT | attributed | validated |
| ICD-11 | LB78.2 | NTBT | index | validated |
| MONDO | 0019673 | E | validated | |
| UMLS | C3887487 | 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:498467Non-syndromic postaxial polydactyly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295163OBSOLETE: Postaxial polydactyly type A, unilateral referred to · inactive
- ORPHA:295165OBSOLETE: Postaxial polydactyly type A, bilateral referred to · inactive
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CIBAR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:30452 | ENSG00000188343 | 617273 | 8q22.1 | CBY1 interacting BAR domain containing 1 | 30395363[PMID] |
| GLI1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4317 | ENSG00000111087 | 165220 | 12q13.3 | GLI family zinc finger 1 | 31549748[PMID] |
| GLI3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4319 | ENSG00000106571 | 165240 | 7p14.1 | GLI family zinc finger 3 | 26394607[PMID]_22428873[PMID] |
| IQCE | Disease-causing germline mutation(s) in | Assessed | HGNC:29171 | ENSG00000106012 | 617631 | 7p22.3 | IQ motif containing E | 26394607[PMID]_28488682[PMID] |
| KIAA0825 | Disease-causing germline mutation(s) in | Assessed | HGNC:28532 | ENSG00000185261 | 617266 | 5q15 | KIAA0825 | 30982135[PMID] |
| ZNF141 | Disease-causing germline mutation(s) in | Assessed | HGNC:12926 | ENSG00000131127 | 194648 | 4p16.3 | zinc finger protein 141 | 26394607[PMID]_23160277[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 15.7 / 100 000 | Mexico | Value and class | Validated | 31091006[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 15.7 / 100 000 | Mexico | Value and class | Validated | 31091006[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93334
- This record as JSON: /data/d/93334.json