EDSCV
MCID: EHL061
MIFTS: 26

Ehlers-Danlos Syndrome, Cardiac Valvular Type (EDSCV)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Cardiac Valvular Type

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Cardiac Valvular Type:

Name: Ehlers-Danlos Syndrome, Cardiac Valvular Type 57 53 59 75
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 53 75 29 6
Eds, Cardiac Valvular Type 53 59
Edscv 57 75
Cardiac-Valvular Ehlers-Danlos Syndrome 53
Cardiac-Valvular Eds 53
Cveds 53

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome, cardiac valvular type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ehlers-danlos syndrome, cardiac valvular type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 230851Disease definitionEhlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ehlers-Danlos Syndrome, Cardiac Valvular Type, is also known as ehlers-danlos syndrome, autosomal recessive, cardiac valvular form. An important gene associated with Ehlers-Danlos Syndrome, Cardiac Valvular Type is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Focal Adhesion and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include skin and bone, and related phenotypes are pectus excavatum and inguinal hernia

UniProtKB/Swiss-Prot : 75 Ehlers-Danlos syndrome, cardiac valvular type: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation.

Description from OMIM: 225320

Related Diseases for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Feet:
pes planus
calcaneovalgus

Skeletal Limbs:
genu recurvatum

Cardiovascular Heart:
mitral regurgitation
mitral valve prolapse
aortic insufficiency
mitral valve insufficiency

Laboratory Abnormalities:
absent pro alpha 2(i) chain synthesis (fibroblasts)

Genitourinary External Genitalia Male:
inguinal hernia

Skin Nails Hair Skin:
thin skin
atrophic scars
soft skin
easy bruisability
skin hyperextensibility
more
Skeletal:
joint laxity

Muscle Soft Tissue:
muscle tears
tendon tears


Clinical features from OMIM:

225320

Human phenotypes related to Ehlers-Danlos Syndrome, Cardiac Valvular Type:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767
2 inguinal hernia 32 HP:0000023
3 pes planus 32 HP:0001763
4 thin skin 32 HP:0000963
5 genu recurvatum 32 HP:0002816
6 joint laxity 32 HP:0001388
7 mitral regurgitation 32 HP:0001653
8 mitral valve prolapse 32 HP:0001634
9 bruising susceptibility 32 HP:0000978
10 hyperextensible skin 32 HP:0000974
11 aortic regurgitation 32 HP:0001659
12 atrophic scars 32 HP:0001075
13 soft skin 32 HP:0000977
14 calcaneovalgus deformity 32 HP:0001848

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Genetic Tests for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Genetic tests related to Ehlers-Danlos Syndrome, Cardiac Valvular Type:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 29 COL1A2

Anatomical Context for Ehlers-Danlos Syndrome, Cardiac Valvular Type

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Cardiac Valvular Type:

41
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Variations for Ehlers-Danlos Syndrome, Cardiac Valvular Type

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Cardiac Valvular Type:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 COL1A2, IVS11DS, G-A, +5 single nucleotide variant Pathogenic
2 COL1A2 COL1A2, IVS24DS, G-C, +1 single nucleotide variant Pathogenic
3 COL1A2 NM_000089.3(COL1A2): c.1404+1G> A single nucleotide variant Pathogenic rs67162110 GRCh37 Chromosome 7, 94041434: 94041434
4 COL1A2 NM_000089.3(COL1A2): c.1404+1G> A single nucleotide variant Pathogenic rs67162110 GRCh38 Chromosome 7, 94412122: 94412122
5 COL1A2 NM_000089.3(COL1A2): c.70+717A> G single nucleotide variant Pathogenic rs72656354 GRCh38 Chromosome 7, 94395818: 94395818
6 COL1A2 NM_000089.3(COL1A2): c.70+717A> G single nucleotide variant Pathogenic rs72656354 GRCh37 Chromosome 7, 94025130: 94025130
7 COL1A2 NM_000089.3(COL1A2): c.3601G> T (p.Glu1201Ter) single nucleotide variant Pathogenic rs72659343 GRCh37 Chromosome 7, 94057679: 94057679
8 COL1A2 NM_000089.3(COL1A2): c.3601G> T (p.Glu1201Ter) single nucleotide variant Pathogenic rs72659343 GRCh38 Chromosome 7, 94428367: 94428367
9 COL1A2 NM_000089.3(COL1A2): c.293dupC (p.Arg99Terfs) duplication Pathogenic rs797044459 GRCh37 Chromosome 7, 94033881: 94033881
10 COL1A2 NM_000089.3(COL1A2): c.293dupC (p.Arg99Terfs) duplication Pathogenic rs797044459 GRCh38 Chromosome 7, 94404569: 94404569
11 COL1A2 NM_000089.3(COL1A2): c.594+5A> T single nucleotide variant Benign/Likely benign rs200744314 GRCh37 Chromosome 7, 94035620: 94035620
12 COL1A2 NM_000089.3(COL1A2): c.594+5A> T single nucleotide variant Benign/Likely benign rs200744314 GRCh38 Chromosome 7, 94406308: 94406308

Expression for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Cardiac Valvular Type.

Pathways for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Pathways related to Ehlers-Danlos Syndrome, Cardiac Valvular Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.72 COL1A2 FLNA
2
Show member pathways
11.18 COL1A2 FLNA

GO Terms for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Biological processes related to Ehlers-Danlos Syndrome, Cardiac Valvular Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 8.62 COL1A2 FLNA

Molecular functions related to Ehlers-Danlos Syndrome, Cardiac Valvular Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 8.62 COL1A2 FLNA

Sources for Ehlers-Danlos Syndrome, Cardiac Valvular Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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