ORPHA:1063
Tufted angioma
Synonyms: Nakagawa angioblastoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- All ages
- Status
- active
A rare vascular tumor characterized by skin lesions with the appearance of poorly delineated red plaques or patches that may be either congenital or acquired (appearing usually in infants and early childhood) with slow angiomatous proliferation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tufted angioma | Nakagawa angioblastoma |
| fr | Angiome en touffes | Angioblastome de Nakagawa |
| de | Hämangiom, büschelartiges | Büschel-Angiom · Nakagawa-Angioblastom |
| es | Angioma en penacho | Angioblastoma de Nakagawa |
| it | Angioma a ciuffi | |
| nl | Tufted angioom | Nakagawa-angioblastoom |
| pt | Angioma cauliforme | Angioblastoma de Nakagawa |
| pl | Tufted angioma | Angioblastoma Nakagawy |
| cs | Klubkovitý angiom | Nagakawa angioblastom |
| uk | Пучкова ангіома | Ангіобластома Накагави |
| zh | 丛状血管病 | Nakagawa血管母细胞瘤 |
| tr | Püsküllü anjiyom | Nakagawa anjiyoblastom |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607859 | E | validated | |
| ICD-10 | D18.0 | NTBT | attributed | validated |
| ICD-11 | 2F2Y | NTBT | index | validated |
| MONDO | 0011927 | E | validated | |
| MeSH | C536924 | E | validated | |
| UMLS | C0346073 | E | validated | |
| GARD | 425 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNA14 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4382 | ENSG00000156049 | 604397 | 9q21.2 | G protein subunit alpha 14 | 27476652[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | 25365496[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_25365496[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
16 annotations · validated 2019-04-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0000975 | Hyperhidrosis | |
| HP:0011355 | Localized skin lesion | |
| Occasional (29-5%) | ||
| HP:0010990 | Abnormality of the common coagulation pathway | |
| HP:0000565 | Esotropia | |
| HP:0000329 | Facial hemangioma | |
| HP:0031490 | Hemangioma of the lip | |
| HP:0000998 | Hypertrichosis | |
| HP:0011900 | Hypofibrinogenemia | |
| HP:0005548 | Megakaryocytopenia | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0012531 | Pain | |
| HP:0003401 | Paresthesia | |
| HP:0000967 | Petechiae | |
| HP:0000979 | Purpura | |
| HP:0001873 | Thrombocytopenia | |
Annotation source: 25436158[PMID]_29166525[PMID]_30318642[PMID]_12752572[PMID]_26844334[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1063
- This record as JSON: /data/d/1063.json