ORPHA:295243
Macrodactyly of toes, unilateral
Synonyms: Macrodactyly of foot, unilateral
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrodactyly of toes, unilateral | Macrodactyly of foot, unilateral |
| fr | Macrodactylie des orteils, unilatérale | Macrodactylie du pied, unilatérale |
| de | Makrodaktylie der Zehen, unilateral | Makrodaktylie des Fusses, unilateral |
| es | Macrodactilia unilateral de dedos del pie | Macrodactilia unilateral del pie |
| it | Macrodattilia unilaterale delle dita del piede | Macrodattilia unilaterale del piede |
| nl | Macrodactylie van tenen, unilateraal | Macrodactylie van voet, unilateraal |
| pt | Macrodactilia dos dedos do pé, unilateral | |
| pl | Makrodaktylia palców stóp, jednostronna | Makrodaktylia stóp, jednostronna |
| cs | Makrodaktylie prstů nohy, unilaterální | Makrodaktylie nohou, unilaterální |
| uk | Макродактилія пальців ніг, одностороння | Макродактилія стопи, одностороння |
| zh | 单侧巨趾症 | 单侧巨趾畸形 |
| tr | Ayak parmakların makrodaktilisi, unilateral | Makrodaktili ayak, unilateral |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155500 | NTBT | validated | |
| ICD-10 | Q74.2 | NTBT | attributed | validated |
| ICD-11 | LB97.1 | NTBT | index | validated |
| MONDO | 0017566 | E | validated | |
| UMLS | C5679988 | 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 (2):
- ORPHA:295047Macrodactyly of toes
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:530313PIK3CA-related overgrowth spectrum disorder
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIK3CA | Disease-causing somatic mutation(s) in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 24782230[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/295243
- This record as JSON: /data/d/295243.json