ORPHA:83454
Glomuvenous malformation
Synonyms: Glomangiomatosis · Hereditary multiple glomangiomas · Multiple glomus tumors · VMGLOM · Venous malformations with glomus cells
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glomuvenous malformation | Glomangiomatosis · Hereditary multiple glomangiomas · Multiple glomus tumors · VMGLOM · Venous malformations with glomus cells |
| fr | Malformation glomuveineuse | Glomangioma multiples héréditaires · Glomangiomatose · Malformation veineuse avec cellule glomique · Tumeurs glomiques multiples |
| de | Glomuvenöse Malformation | Glomangiomatose · Glomangiome, hereditäre multiple · Glomustumoren, multiple · Venöse Malformationen mit Glomuszellen (VMGLOM) |
| es | Malformación glomuvenosa | Células glómicas con malformaciones venosas · Glomangiomas múltiples hereditarios · Glomangiomatosis · Tumores glómicos múltiples · VMGLOM |
| it | Malformazione glomovenosa | Glomangiomatosi · Glomangiomi multipli ereditari · Malformazioni venose con cellule glomiche · Tumori glomici multipli · VMGLOM |
| nl | Glomuveneuze malformatie | Erfelijke meervoudige glomangiomen · Glomangiomatose · Meervoudige glomustumoren · VMGLOM · Veneuze malformaties met glomuscellen |
| pt | Malformações glomuvenosas | |
| pl | Malformacja splotowo-żylna | Dziedziczne mnogie kłębczaki · Kłębczakowatość · Malformacje żylne z komórkami kłębkowymi · Mnogie guzy kłębkowe · VMGLOM |
| cs | Glomuvenózní malformace | Glomangiomatóza · VMGLOM · Hereditární mnohočetné glomangiomy · Mnohočetné glomus tumory · Venózní malformace s glomus buňkami |
| uk | Гломувенозна мальформація | Гломангіоматоз · Спадкові множинні гломангіоми · Множинні пухлини гломуса · Венозні вади розвитку з клітинами гломусу · VMGLOM |
| zh | 静脉血管球畸形 | 静脉畸形伴血管球细胞 |
| tr | Glomüvenöz malformasyon | VMGLOM · Glomanjiyomatoz · Çoklu glomus tümörleri · Kalıtsal çoklu glomanjiyomlar · Glomus hücreli venöz malformasyonlar |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 138000 | E | validated | |
| ICD-10 | Q27.8 | NTBT | attributed | validated |
| ICD-11 | LC51 | NTBT | index | validated |
| MONDO | 0007672 | E | validated | |
| MeSH | C536827 | E | validated | |
| UMLS | C1841984 | 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 (5):
- ORPHA:371436Genetic neurovascular malformation
rare genetic diseases - ORPHA:715339Multifocal peripheral venous malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:102006Neurovascular malformation
rare neurological diseases - ORPHA:459548Rare genetic venous malformation
rare genetic diseases - ORPHA:715334Unifocal peripheral venous malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLMN | Disease-causing germline mutation(s) in | Assessed | HGNC:14373 | ENSG00000174842 | 601749 | 1p22.1 | glomulin, FKBP associated protein | 11845407[PMID]_22092580[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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.
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HPO phenotypes
16 annotations · validated 2019-10-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100026 | Arteriovenous malformation | |
| HP:0012721 | Venous malformation | |
| Frequent (79-30%) | ||
| HP:0011297 | Abnormal digit morphology | |
| HP:0200036 | Skin nodule | |
| Occasional (29-5%) | ||
| HP:0002814 | Abnormality of the lower limb | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0011355 | Localized skin lesion | |
| HP:0200034 | Papule | |
| HP:0200035 | Skin plaque | |
| Very rare (<4-1%) | ||
| HP:0045026 | Abnormal mediastinum morphology | |
| HP:0012210 | Abnormal renal morphology | |
| HP:0002778 | Abnormal trachea morphology | |
| HP:0010640 | Abnormality of the nasal cavity | |
| HP:0002629 | Gastrointestinal arteriovenous malformation | |
| HP:0031445 | Oral mucosa nodule | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 16298253[PMID]_25614464[PMID]_25382523[PMID]_28163461[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83454
- This record as JSON: /data/d/83454.json