ORPHA:295239
Macrodactyly of fingers, unilateral
Synonyms: Macrodactyly of hand, 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 fingers, unilateral | Macrodactyly of hand, unilateral |
| fr | Macrodactylie des doigts, unilatérale | Macrodactylie de la main, unilatérale |
| de | Makrodaktylie der Finger, unilateral | Makrodaktylie der Hand, unilateral |
| es | Macrodactilia unilateral de dedos de la mano | Macrodactilia unilateral de la mano |
| it | Macrodattilia unilaterale delle dita della mano | Macrodattilia unilaterale della mano |
| nl | Macrodactylie van vinger, unilateraal | Macrodactylie van hand, unilateraal |
| pt | Macrodactilia dos dedos da mão, unilateral | |
| pl | Makrodaktylia palców, jednostronna | Makrodaktylia dłoni, jednostronna |
| cs | Makrodaktylie prstů ruky, unilaterální | Makrodaktylie rukou, unilaterální |
| uk | Макродактилія пальців, одностороння | Макродактилія кисті, одностороння |
| zh | 单侧手指巨指症 | 单侧巨指畸形 |
| tr | Parmak makrodaktilisi, unilateral | Makrodaktili el, unilateral |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155500 | NTBT | validated | |
| ICD-10 | Q74.0 | NTBT | attributed | validated |
| ICD-11 | LB97.0 | NTBT | index | validated |
| MONDO | 0017564 | E | validated | |
| UMLS | C5679987 | 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:295044Macrodactyly of fingers
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 | 23100325[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/295239
- This record as JSON: /data/d/295239.json