ORPHA:1053
Vein of Galen malformation
Synonyms: VOGM · Vein of Galen arteriovenous malformation
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare intracranial congenital high-flow vascular malformation characterized by arteriovenous shunts draining into the median prosencephalic vein of Markowski, embryonic precursor of the vein of Galen, typically presenting in neonates or infants.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vein of Galen malformation | VOGM · Vein of Galen arteriovenous malformation |
| fr | Malformation de la veine de Galien | Malformation atério-veineuse de la veine de Galien · VGAM · VOGM |
| de | Vena Galeni-Malformation | Aneurysmatische Fehlbildung der Vena Galeni · VOGM |
| es | Malformación de la vena de Galeno | MAVG · Malformaciones arteriovenosas de la vena de Galeno |
| it | Malformazione della vena di Galeno | VOGM · Malformazioni arterovenose della vena di Galeno · Malformazione artero-venosa della vena di Galeno |
| nl | Malformatie van vena Galeni | Arterioveneuze malformatie van vena Galeni · Malformatie van ader van Galenus · VOGM |
| pt | Malformação da veia Galeno | VOGM · Malformação arteriovenosa da veia Galeno |
| pl | Malformacja żyły Galena | Malformacje tętniczo-żylne żyły Galena |
| cs | Aneuryzma Galénovy žíly | Arteriovenózní malformace Galénovy žíly |
| uk | Аневризматична мальформація вени Галена | Артеріовенозні мальформації Галена |
| zh | 静脉Galen动脉瘤样畸形 | 静脉Galen动脉瘤样畸形 |
| tr | Galen veni anevrizmal malformasyonu | Galen arteriyovenöz malformasyonların toplar damarı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q28.2 | NTBT | attributed | validated |
| ICD-11 | LA90.20 | E | specific | validated |
| MONDO | 0015196 | E | validated | |
| MeSH | C536535 | E | validated | |
| UMLS | C0431420 | E | validated | |
| GARD | 5467 | E | validated | |
| MedDRA | 10077889 | 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 (3):
- ORPHA:371436Genetic neurovascular malformation
rare genetic diseases - ORPHA:211240Genetic vascular anomaly
rare genetic diseases - ORPHA:715750Intracranial fast-flow vascular malformation
rare developmental anomalies during embryogenesis; rare neurological diseases; rare circulatory system diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EPHB4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3395 | ENSG00000196411 | 600011 | 7q22.1 | EPH receptor B4 | 29444212[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET_1997895[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.
6
HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| Frequent (79-30%) | ||
| HP:0002617 | Dilatation | |
| HP:0100784 | Peripheral arteriovenous fistula | |
Run the differential on the 1 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1053
- This record as JSON: /data/d/1053.json