ORPHA:295197
Synpolydactyly type 2
Synonyms: SD2, Debeer type · SD2b · SPD, Debeer type · SPD2 · Synpolydactyly, Debeer 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 2 | SD2, Debeer type · SD2b · SPD, Debeer type · SPD2 · Synpolydactyly, Debeer type |
| fr | Sympolydactylie type 2 | SD2 type Debeer · SD2b · SPD type Debeer · SPD2 · Sympolydactylie type Debeer |
| de | Synpolydaktylie Typ 2 | SD2 Typ Debeer · SD2b · SPD Typ Debeer · SPD2 · Synpolydaktylie Typ Debeer |
| es | Polisindactilia tipo 2 | Polisindactilia tipo Debeer · SD2 tipo Debeer · SD2b · SPD tipo Debeer · SPD2 |
| it | Sinpolidattilia, tipo 2 | SD2, tipo Debeer · SD2b · SPD, tipo Debeer · SPD2 · Sinpolidattilia, tipo Debeer |
| nl | Synpolydactylie type 2 | SD2, Debeer-type · SD2b · SPD, Debeer-type · SPD2 · Synpolydactylie, Debeer-type |
| pt | Simpolidactilia, tipo 2 | SD2, tipo Debeer · SD2b · SPD, tipo Debeer · SPD2 · Simpolidactilia, tipo Debeer |
| pl | Synpolidaktylia typu 2 | SD2, typ Debeera · SD2b · SPD, typ Debeera · SPD2 · Synpolidaktylia, typ Debeera |
| cs | Synpolydaktylie, typ 2 | SD2b · SPD2 · SD2, Debeerův typ · SPD, Debeerův typ · Synpolydaktylie, Debeerův typ |
| uk | Синполідактилія, тип 2 | SD2, тип Debeer · SD2b · SPD, тип Debeer · SPD2 · Синполідактилія, тип Дебера |
| zh | 联指2型 | 并指（趾）Debeer型 |
| tr | Sinpolidaktili tip 2 | SD2b · SPD2 · SD2, Debeer tipi · SPD, Debeer tipi · Sinpolidaktili, Debeer tip |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608180 | E | validated | |
| ICD-10 | Q70.0 | BTNT | attributed | validated |
| ICD-10 | Q70.2 | BTNT | attributed | validated |
| ICD-11 | LB79.Y | NTBT | index | validated |
| MONDO | 0011984 | E | validated | |
| MeSH | C564278 | E | validated | |
| UMLS | C1842422 | 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 |
|---|---|---|---|---|---|---|---|---|
| FBLN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3600 | ENSG00000077942 | 135820 | 22q13.31 | fibulin 1 | 22448207[PMID]_11836357[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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/295197
- This record as JSON: /data/d/295197.json