Ehlers-danlos syndrome, vascular type

Preferred Label : Ehlers-danlos syndrome, vascular type;

Symbol : EDSVASC;

CISMeF acronym : EDSVASC; EDS4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ehlers-danlos syndrome, sack-barabas type; Eds iv; EDS4; Ehlers-danlos syndrome, ecchymotic type; Ehlers-danlos syndrome, type iv, autosomal dominant; Ehlers-danlos syndrome, arterial type;

Description : Ehlers-Danlos syndrome type IV is an autosomal dominant disorder characterized by the joint and dermal manifestations as in other forms of the syndrome but also by proneness to spontaneous rupture of bowel and large arteries. Beighton et al. (1998) reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, including a category of 'unspecified forms.';

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen III, alpha-1 polypeptide gene (COL3A1, 120180.0001);

Laboratory abnormalities : Type III collagen defect;

Prefixed ID : #130050;

Details

Origin ID

130050;

UMLS CUI

C0268338;

Automatic exact mappings (from CISMeF team)
- Ehlers-Danlos Syndrome, Type IV [MeSH Descriptor]
- ehlers-danlos syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Ehlers Danlos syndrome type IV [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type IV [NCIt concept]
- Ehlers-Danlos Syndrome, Type IV [MeSH Descriptor]
- Ehlers-Danlos syndrome, type 4 (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type IV [MeSH concept]
- Ehlers-Danlos syndrome, vascular type [ICD-11 More detail]
- Vascular Ehlers-Danlos syndrome [ORDO Disease]
- ehlers-danlos syndrome, type 4 [SNOMED Notion]
- vascular type Ehlers-Danlos syndrome [DO Concept]
DO Cross reference
- vascular type Ehlers-Danlos syndrome [DO Concept]
Genes related to phenotype
- Collagen, type III, alpha-1 [OMIM gene]
HPO term(s)
- Absent earlobe [HPO term]
- Alopecia of scalp [HPO term]
- Anemia [HPO term]
- Arterial rupture [HPO term]
- Ascending aortic dissection [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Carotid cavernous fistula [HPO term]
- Cervical insufficiency [HPO term]
- Chest pain [HPO term]
- Cigarette-paper scars [HPO term]
- Combined cystic and ground-glass pattern on pulmonary HRCT [HPO term]
- Cryptorchidism [HPO term]
- Cystocele [HPO term]
- Dermal translucency [HPO term]
- Descending aortic dissection [HPO term]
- Diffuse alveolar hemorrhage [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Ecchymosis [HPO term]
- Emphysema [HPO term]
- Finger joint hypermobility [HPO term]
- Foot acroosteolysis [HPO term]
- Fragile skin [HPO term]
- Hemoptysis [HPO term]
- Hemothorax [HPO term]
- Hyperextensible skin [HPO term]
- Hypermobility of distal interphalangeal joints [HPO term]
- Hypermobility of interphalangeal joints [HPO term]
- Inguinal hernia [HPO term]
- Joint hypermobility [HPO term]
- Keratoconus [HPO term]
- Metacarpophalangeal joint hyperextensibility [HPO term]
- Mild skin hyperextensibility [HPO term]
- Mitral valve prolapse [HPO term]
- Molluscoid pseudotumors [HPO term]
- Narrow nasal ridge [HPO term]
- Nodular pattern on pulmonary HRCT [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Pectus excavatum [HPO term]
- Periodontitis [HPO term]
- Pneumothorax [HPO term]
- Premature delivery because of cervical insufficiency or membrane fragility [HPO term]
- Premature loss of teeth [HPO term]
- Pulmonary bleb [HPO term]
- Pulmonary bulla [HPO term]
- Recurrent intrapulmonary hemorrhage [HPO term]
- Repeated pneumothoraces [HPO term]
- Short stature [HPO term]
- Spontaneous pneumothorax [HPO term]
- Talipes equinovarus [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Uterine prolapse [HPO term]
- Uterine rupture [HPO term]
- Varicose veins [HPO term]
ORDO concept(s)
- Vascular Ehlers-Danlos syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers Danlos syndrome type IV [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type IV [NCIt concept]
- Ehlers-Danlos Syndrome, Type IV [MeSH Descriptor]
- Ehlers-Danlos syndrome, type 4 (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type IV [MeSH concept]
- Ehlers-Danlos syndrome, vascular type [ICD-11 More detail]
- Vascular Ehlers-Danlos syndrome [ORDO Disease]
- ehlers-danlos syndrome, type 4 [SNOMED Notion]

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