ORPHA:286
Vascular Ehlers-Danlos syndrome
Synonyms: Arterial-ecchymotic EDS · EDS IV · Ehlers-Danlos syndrome type 4 · Sack-Barabas syndrome · Vascular EDS · vEDS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vascular Ehlers-Danlos syndrome | Arterial-ecchymotic EDS · EDS IV · Ehlers-Danlos syndrome type 4 · Sack-Barabas syndrome · Vascular EDS · vEDS |
| fr | Syndrome d'Ehlers-Danlos vasculaire | EDS IV · SED artériel-ecchymotique · SED type 4 · SEDv · Syndrome d'Ehlers-Danlos type 4 · Syndrome de Sack-Barabas |
| de | Ehlers-Danlos-Syndrom, vaskulärer Typ | Arteriell-ekchymotisches EDS · EDS IV · EDS, vaskuläres · Ehlers-Danlos-Syndrom Typ 4 · Sack-Barabas-Syndrom · vEDS |
| es | Síndrome de Ehlers-Danlos vascular | SED IV · SED arterio-equimótico · SED vascular · Síndrome de Ehlers-Danlos tipo 4 · Síndrome de Sack-Barabas |
| it | Sindrome di Ehlers-Danlos, tipo vascolare | EDS IV · EDS arteriosa-ecchimotica · EDS vascolare · Sindrome di Ehlers-Danlos, tipo 4 · Sindrome di Sack-Barabas · vEDS |
| nl | Vasculair syndroom van Ehlers-Danlos | Arterieel-ecchymotisch EDS · EDS IV · Syndroom van Ehlers-Danlos type 4 · Syndroom van Sack-Barabas · Vasculair EDS · vEDS |
| pt | Síndrome Ehlers-Danlos vascular | EDS IV · EDS equimótico-arterial · EDS vascular · Síndrome Ehlers-Danlos tipo 4 |
| pl | Zespół Ehlersa i Danlosa naczyniowy | Zespół Ehlersa i Danlosa typu 4 · Zespół Ehlersa i Danlosa typu IV · Zespół Sacka i Barabasa |
| cs | Ehlersův-Danlosův syndrom, vaskulární typ | EDS IV · EDS typ 4 · Ehlersův-Danlosův syndrom, typ 4 · Ehlersův-Danlosův syndrom, typ IV · Sackův-Barabasův syndrom · Ehlers-Danlosův syndrom, vaskulární typ · Ehlers-Danlosův syndrom, typ 4 · Ehlers-Danlosův syndrom, typ IV · Sack-Barabasův syndrom |
| uk | Судинний синдром Елерса-Данлоса | Артеріально-екхімозний EDS · EDS IV · Синдром Елерса-Данлоса, тип 4 · Синдром Сакка-Барабаса · Судинний EDS · VEDS |
| zh | 血管性Ehlers-Danlos综合征 | Ehlers-Danlos综合征4型 |
| tr | Vasküler Ehlers-Danlos sendromu | vEDS · EDS IV · Sack-Barabas sendromu · Arteriyel-ekimotik EDS · Ehlers-Danlos sendromu tip 4 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 130050 | E | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | index | validated |
| MONDO | 0017314 | E | validated | |
| MeSH | D000094623 | E | validated | |
| UMLS | C0268338 | E | validated | |
| GARD | 2082 | 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:98249Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases - ORPHA:285014Rare disease with thoracic aortic aneurysm and aortic dissection
rare genetic diseases; rare surgical thoracic diseases; rare circulatory system diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL3A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2201 | ENSG00000168542 | 120180 | 2q32.2 | collagen type III alpha 1 chain | 20301667[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 35779834[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
47 annotations · validated 2026-05-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0004947 | Arteriovenous fistula | |
| HP:0000978 | Bruising susceptibility | Diagnostic criterion |
| HP:0031369 | Colon perforation | Diagnostic criterion |
| HP:0010648 | Dermal translucency | |
| HP:0011029 | Internal hemorrhage | |
| HP:0001382 | Joint hypermobility | Diagnostic criterion |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001622 | Premature birth | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0000520 | Proptosis | |
| HP:0001762 | Talipes equinovarus | Diagnostic criterion |
| HP:0000963 | Thin skin | Diagnostic criterion |
| HP:0000233 | Thin vermilion border | |
| HP:0002619 | Varicose veins | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0004942 | Aortic aneurysm | |
| HP:0002647 | Aortic dissection | Diagnostic criterion |
| HP:0005294 | Arterial dissection | Diagnostic criterion |
| HP:0004970 | Ascending tubular aorta aneurysm | |
| HP:0031157 | Carotid cavernous fistula | Diagnostic criterion |
| HP:0001073 | Cigarette-paper scars | |
| HP:0001374 | Congenital hip dislocation | Diagnostic criterion |
| HP:0034518 | Gingival fragility | Diagnostic criterion |
| HP:0030816 | Gingival recession | Diagnostic criterion |
| HP:0000230 | Gingivitis | |
| HP:0002105 | Hemoptysis | |
| HP:0002705 | High, narrow palate | |
| HP:0000822 | Hypertension | |
| HP:0000047 | Hypospadias | |
| HP:0001373 | Joint dislocation | |
| HP:0000160 | Narrow mouth | |
| HP:0000704 | Periodontitis | |
| HP:0002107 | Pneumothorax | Diagnostic criterion |
| HP:0011891 | Post-partum hemorrhage | |
| HP:0005267 | Premature delivery because of cervical insufficiency or membrane fragility | |
| HP:0006357 | Premature loss of permanent teeth | |
| HP:0032447 | Pulmonary bleb | |
| HP:0001582 | Redundant skin | |
| HP:0100817 | Renovascular hypertension | |
| HP:0012223 | Splenic rupture | |
| HP:6000814 | Temporomandibular joint dislocation | |
| HP:0100550 | Tendon rupture | |
| HP:0001537 | Umbilical hernia | |
| HP:0000139 | Uterine prolapse | |
| Very rare (<4-1%) | ||
| HP:0009775 | Amniotic constriction ring | |
| HP:0000563 | Keratoconus | Diagnostic criterion |
| HP:0100718 | Uterine rupture | Diagnostic criterion |
Annotation source: 28306229[PMID]_28306228[PMID]_38926786[PMID]_20301667[PMID]_24922459[PMID]_30999998[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/286
- This record as JSON: /data/d/286.json