ORPHA:230851
Cardiac-valvular Ehlers-Danlos syndrome
Synonyms: Cardiac-valvular EDS · cvEDS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cardiac-valvular Ehlers-Danlos syndrome | Cardiac-valvular EDS · cvEDS |
| fr | Syndrome d'Ehlers-Danlos type cardiaque valvulaire | EDS type cardiaque valvulaire · SED cardio-valvulaire · SEDcv |
| de | Ehlers-Danlos-Syndrom, kardio-valvulärer Typ | EDS vom Herzklappentyp · EDS, kardiovalvuläres · cvEDS |
| es | Síndrome de Ehlers-Danlos cardíaco-valvular | SED cardiaco-valvular |
| it | Sindrome di Ehlers-Danlos, tipo cardio-valvolare | EDS, tipo cardiaco-valvolare |
| nl | Cardiaal-valvulair syndroom van Ehlers-Danlos | Cardiaal-valvulair EDS · cvEDS |
| pt | Síndrome de Ehlers-Danlos, tipo valvular cardíaco | |
| pl | Zespół Ehlersa i Danlosa, typ zastawek serca | EDS, typ zastawek serca |
| cs | Ehlersův-Danlosův syndrom, srdeční valvulární typ | EDS, srdeční valvulární typ · Ehlers-Danlosův syndrom, srdeční valvulární typ |
| uk | Серцево-клапанний синдром Елерса-Данлоса | Серцево-клапанний EDS · cvEDS |
| zh | 心脏瓣膜埃勒斯-当洛斯综合征 | 心脏瓣膜EDS |
| tr | Kardiyak-valvüler Ehlers-Danlos sendromu | cvEDS · Kardiyak-kapak EDS |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 225320 | E | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | index | validated |
| MONDO | 0009159 | E | validated | |
| UMLS | C4303789 | E | validated | |
| GARD | 12613 | 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:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL1A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2198 | ENSG00000164692 | 120160 | 7q21.3 | collagen type I alpha 2 chain | 15077201[PMID]_16816023[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 16816023[PMID]_1507720[PMID]_2952379[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
49 annotations · validated 2019-11-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0000974 | Hyperextensible skin | Diagnostic criterion |
| HP:0001382 | Joint hypermobility | Diagnostic criterion |
| HP:0001653 | Mitral regurgitation | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0006109 | Absent phalangeal crease | |
| HP:0001659 | Aortic regurgitation | Diagnostic criterion |
| HP:0002616 | Aortic root aneurysm | |
| HP:0001075 | Atrophic scars | Diagnostic criterion |
| HP:0000978 | Bruising susceptibility | Diagnostic criterion |
| HP:0000678 | Dental crowding | |
| HP:0002816 | Genu recurvatum | |
| HP:0002857 | Genu valgum | |
| HP:0001822 | Hallux valgus | Diagnostic criterion |
| HP:0006201 | Hypermobility of distal interphalangeal joints | |
| HP:0000023 | Inguinal hernia | Diagnostic criterion |
| HP:0001373 | Joint dislocation | Diagnostic criterion |
| HP:0100807 | Long fingers | |
| HP:0000545 | Myopia | |
| HP:0000767 | Pectus excavatum | Diagnostic criterion |
| HP:0001763 | Pes planus | Diagnostic criterion |
| HP:0001058 | Poor wound healing | |
| HP:0000508 | Ptosis | |
| HP:0001027 | Soft, doughy skin | |
| HP:0000486 | Strabismus | |
| HP:0000963 | Thin skin | Diagnostic criterion |
| HP:0005180 | Tricuspid regurgitation | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0000414 | Bulbous nose | |
| HP:0001848 | Calcaneovalgus deformity | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0002094 | Dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0500041 | Myopic astigmatism | |
| HP:0010444 | Pulmonary insufficiency | |
| HP:0031610 | Recurrent shoulder dislocation | |
| HP:0001852 | Sandal gap | |
| HP:0001250 | Seizure | |
| HP:0012717 | Severe conductive hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0100550 | Tendon rupture | |
| HP:0032523 | Tendon thickening | |
| HP:0000574 | Thick eyebrow | |
| HP:0002944 | Thoracolumbar scoliosis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30821104[PMID]_15077201[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/230851
- This record as JSON: /data/d/230851.json