ORPHA:675359
Anastomosing hemangioma
Synonyms: Anastomosing haemangioma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Elderly, Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anastomosing hemangioma | Anastomosing haemangioma |
| fr | Hémangiome anastomotique | |
| de | Hämangiom, anastomosierendes | |
| es | Hemangioma anastomosante | |
| it | Emangioma anastomizzante | |
| nl | Anastomoserend hemangioom | |
| pt | Hemangioma anastomosante | |
| pl | Naczyniak zespalający | = en |
| cs | Anastomozující hemangiom | = en |
| uk | Анастомозуюча гемангіома |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D18.0 | NTBT | attributed | validated |
| ICD-11 | 2E81.0Y | NTBT | attributed | validated |
| MONDO | 0975757 | E | validated | |
| MONDO | 975757 | E | validated | |
| UMLS | C4329301 | 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:673470Benign vascular tumor
rare developmental anomalies during embryogenesis; rare circulatory system diseases; rare neoplastic diseases - ORPHA:459543Rare genetic vascular tumor
rare genetic diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNA11 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4379 | ENSG00000088256 | 139313 | 19p13.3 | G protein subunit alpha 11 | 31189994[PMID] |
| GNA14 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4382 | ENSG00000156049 | 604397 | 9q21.2 | G protein subunit alpha 14 | 29574926[PMID] |
| GNAQ | Disease-causing somatic mutation(s) in | Assessed | HGNC:4390 | ENSG00000156052 | 600998 | 9q21.2 | G protein subunit alpha q | 28084343[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 26960722[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 26960722[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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/675359
- This record as JSON: /data/d/675359.json