EDSVASC
MCID: EHL052
MIFTS: 65
|
Ehlers-Danlos Syndrome, Vascular Type (EDSVASC)
Categories:
Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
|
|
|
MalaCards integrated aliases for Ehlers-Danlos Syndrome, Vascular Type:
Characteristics:Inheritance:
Ehlers-Danlos Syndrome, Vascular Type:
Autosomal dominant 57
Vascular Ehlers-Danlos Syndrome:
Autosomal dominant,Autosomal recessive 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
death usually occurs before 5th decade autosomal recessive inheritance has been reported in 1 family (as of april 2011) GeneReviews:24
Penetrance In families identified on the basis of clinical complications, penetrance of the veds phenotype appears to be close to 100% in adults with a missense or exon-skipping alteration; the age at which the pathogenic variant becomes penetrant may vary. col3a1 null variants have significantly reduced penetrance manifested by the absence of minor diagnostic criteria in 51% of individuals with veds identified with a pathogenic null alteration [leistritz et al 2011].
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Cardiovascular diseases Bone diseases Skin diseases
ICD10:
32
Orphanet: 58
![]() ![]() ![]() ![]() |
GARD: 19 Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. Vascular EDS is usually caused by a change in the COL3A1 gene. Rarely, it may be caused by a genetic change in the COL1A1 gene. Inheritance is autosomal dominant. MalaCards based summary: Ehlers-Danlos Syndrome, Vascular Type, also known as eds iv, is related to hypermobile ehlers-danlos syndrome and varicose veins, and has symptoms including hemoptysis An important gene associated with Ehlers-Danlos Syndrome, Vascular Type is COL3A1 (Collagen Type III Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Irbesartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are global developmental delay and hypertelorism UniProtKB/Swiss-Prot: 73 A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. OMIM®: 57 The vascular type of Ehlers-Danlos syndrome is characterized by the major complications of arterial and bowel rupture, uterine rupture during pregnancy, and the clinical features of easy bruising, thin skin with visible veins, and characteristic facial features (summary by Leistritz et al., 2011). Joint hypermobility is largely limited to the digits, and skin hyperextensibility is minimal or absent (McKusick, 1972). (130050) (Updated 08-Dec-2022) Disease Ontology: 11 An Ehlers-Danlos syndrome that has material basis in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is 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. Orphanet: 58 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. Wikipedia: 75 Sack-Barabas syndrome is an older name for the medical condition vascular Ehlers-Danlos syndrome (vEDS).... more...
GeneReviews:
NBK1494
|
Human phenotypes related to Ehlers-Danlos Syndrome, Vascular Type:58 30 (show top 50) (show all 128)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:130050 (Updated 08-Dec-2022)UMLS symptoms related to Ehlers-Danlos Syndrome, Vascular Type:hemoptysis MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Vascular Type:45
|
Drugs for Ehlers-Danlos Syndrome, Vascular Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 29)
Interventional clinical trials:
|
Organs/tissues related to Ehlers-Danlos Syndrome, Vascular Type:
MalaCards :
Skin,
Bone,
Eye,
Heart,
Lung,
Liver,
Colon
|
Articles related to Ehlers-Danlos Syndrome, Vascular Type:(show top 50) (show all 820)
|
ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Vascular Type:5 (show top 50) (show all 1398)
UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Vascular Type:73 (show top 50) (show all 101)
|
Search
GEO
for disease gene expression data for Ehlers-Danlos Syndrome, Vascular Type.
|
Pathways related to Ehlers-Danlos Syndrome, Vascular Type according to GeneCards Suite gene sharing:(show all 11)
|
Cellular components related to Ehlers-Danlos Syndrome, Vascular Type according to GeneCards Suite gene sharing:
Biological processes related to Ehlers-Danlos Syndrome, Vascular Type according to GeneCards Suite gene sharing:
Molecular functions related to Ehlers-Danlos Syndrome, Vascular Type according to GeneCards Suite gene sharing:
|
|