ORPHA:295195
Synpolydactyly type 1
Synonyms: SD2, Vordingborg type · SD2a · SPD, Vordingborg type · SPD1 · Synpolydactyly, Vordingborg type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
This disease is described under Syndactyly type 2
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Synpolydactyly type 1 | SD2, Vordingborg type · SD2a · SPD, Vordingborg type · SPD1 · Synpolydactyly, Vordingborg type |
| fr | Sympolydactylie type 1 | SD2 type Vordingborg · SD2a · SPD type Vordingborg · SPD1 · Sympolydactylie type Vordingborg |
| de | Synpolydaktylie Typ 1 | SD2 Typ Vordingborg · SD2a · SPD Typ Vordingborg · SPD1 · Synpolydaktylie Typ Vordingborg |
| es | Polisindactilia tipo 1 | Polisindactilia tipo Vordingborg · SD2 tipo Vordingborg · SD2a · SPD tipo Vordingborg · SPD1 |
| it | Sinpolidattilia, tipo 1 | SD2, tipo Vordingborg · SD2a · SPD, tipo Vordingborg · SPD1 · Sinpolidattilia, tipo Vordingborg |
| nl | Synpolydactylie type 1 | SD2, Vordingborg-type · SD2a · SPD, Vordingborg-type · SPD1 · Synpolydactylie, Vordingborg-type |
| pt | Simpolidactilia tipo 1 | SD2, tipo Vordingborg · SD2a · SPD, tipo Vordingborg · SPD1 · Simpolidactilia, tipo Vordingborg |
| pl | Synpolidaktylia typu 1 | SD2, typ Vordingborga · SD2a · SPD, typ Vordingborga · SPD1 · Synpolidaktylia, typ Vordingborga |
| cs | Synpolydaktylie, typ 1 | SD2a · SPD1 · SD2, Vordingborgův typ · SPD, Vordingborgův typ · Synpolydaktylie, Vordingborgův typ |
| uk | Синполідактилія, тип 1 | SD2, тип Вордінгборг · SD2a · SPD, тип Вордінгборг · SPD1 · Синполідактилія, вордінгборзький тип |
| zh | 联指1型 | 并指（趾）Vordingborg型 |
| tr | Sinpolidaktili tip 1 | SD2a · SPD1 · SD2, Vordingborg tipi · SPD, Vordingborg tipi · Sinpolidaktili, Vordingborg tipi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 186000 | E | validated | |
| ICD-10 | Q70.0 | BTNT | attributed | validated |
| ICD-10 | Q70.2 | BTNT | attributed | validated |
| ICD-11 | LB79.Y | NTBT | index | validated |
| MONDO | 0008513 | E | validated | |
| UMLS | C5574994 | 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:93403Syndactyly type 2
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 |
|---|---|---|---|---|---|---|---|---|
| HOXD13 | Disease-causing germline mutation(s) in | Assessed | HGNC:5136 | ENSG00000128714 | 142989 | 2q31.1 | homeobox D13 | 22448207[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/295195
- This record as JSON: /data/d/295195.json