EDSCV
MCID: EHL061
MIFTS: 29

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 58 54 76
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 54 76 30 6
Cardiac-Valvular Ehlers-Danlos Syndrome 54 60
Cardiac-Valvular Eds 54 60
Edscv 58 76
Cveds 54 60
Ehlers-Danlos Syndrome Cardiac Valvular Type 38
Eds, Cardiac Valvular Type 54

Characteristics:

Orphanet epidemiological data:

60
cardiac-valvular ehlers-danlos syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ehlers-danlos syndrome, cardiac valvular type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Type

NIH Rare Diseases : 54 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, also known as ehlers-danlos syndrome, autosomal recessive, cardiac valvular form, is related to ehlers-danlos syndrome. 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 ECM-receptor interaction. Affiliated tissues include skin and bone, and related phenotypes are pectus excavatum and inguinal hernia

UniProtKB/Swiss-Prot : 76 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

Diseases related to Ehlers-Danlos Syndrome, Cardiac Valvular Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 10.3

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

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

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 HP:0000767
2 inguinal hernia 33 HP:0000023
3 pes planus 33 HP:0001763
4 thin skin 33 HP:0000963
5 genu recurvatum 33 HP:0002816
6 joint laxity 33 HP:0001388
7 mitral valve prolapse 33 HP:0001634
8 mitral regurgitation 33 HP:0001653
9 bruising susceptibility 33 HP:0000978
10 hyperextensible skin 33 HP:0000974
11 aortic regurgitation 33 HP:0001659
12 atrophic scars 33 HP:0001075
13 calcaneovalgus deformity 33 HP:0001848
14 soft skin 33 HP:0000977

Symptoms via clinical synopsis from OMIM:

58
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Feet:
pes planus
calcaneovalgus

Skeletal Limbs:
genu recurvatum

Cardiovascular Heart:
mitral valve prolapse
mitral regurgitation
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

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 30 COL1A2

Anatomical Context for Ehlers-Danlos Syndrome, Cardiac Valvular Type

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

42
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Articles related to Ehlers-Danlos Syndrome, Cardiac Valvular Type:

# Title Authors Year
1
Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2. ( 30821104 )
2019
2
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. ( 16816023 )
2006
3
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. ( 15077201 )
2004
4
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. ( 9295084 )
1997
5
Case report and study of collagen metabolism in Ehlers-Danlos syndrome type II. ( 3049731 )
1988
6
Existence of malfunctioning pro alpha2(I) collagen genes in a patient with a pro alpha 2(I)-chain-defective variant of Ehlers-Danlos syndrome. ( 3383844 )
1988

Variations for Ehlers-Danlos Syndrome, Cardiac Valvular Type

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

6 (show all 28)
# 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.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh38 Chromosome 7, 94426459: 94426459
12 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh37 Chromosome 7, 94055771: 94055771
13 COL1A2 NM_000089.3(COL1A2): c.3047C> A (p.Pro1016His) single nucleotide variant Uncertain significance rs377278762 GRCh37 Chromosome 7, 94055784: 94055784
14 COL1A2 NM_000089.3(COL1A2): c.3047C> A (p.Pro1016His) single nucleotide variant Uncertain significance rs377278762 GRCh38 Chromosome 7, 94426472: 94426472
15 COL1A2 NM_000089.3(COL1A2): c.594+5A> T single nucleotide variant Benign/Likely benign rs200744314 GRCh37 Chromosome 7, 94035620: 94035620
16 COL1A2 NM_000089.3(COL1A2): c.594+5A> T single nucleotide variant Benign/Likely benign rs200744314 GRCh38 Chromosome 7, 94406308: 94406308
17 COL1A2 NM_000089.3(COL1A2): c.3853A> C (p.Asn1285His) single nucleotide variant Uncertain significance rs144797861 GRCh37 Chromosome 7, 94058641: 94058641
18 COL1A2 NM_000089.3(COL1A2): c.3853A> C (p.Asn1285His) single nucleotide variant Uncertain significance rs144797861 GRCh38 Chromosome 7, 94429329: 94429329
19 COL1A2 NM_000089.3(COL1A2): c.286A> G (p.Met96Val) single nucleotide variant Uncertain significance rs763509640 GRCh38 Chromosome 7, 94404562: 94404562
20 COL1A2 NM_000089.3(COL1A2): c.286A> G (p.Met96Val) single nucleotide variant Uncertain significance rs763509640 GRCh37 Chromosome 7, 94033874: 94033874
21 COL1A2 NM_000089.3(COL1A2): c.982G> A (p.Gly328Ser) single nucleotide variant Pathogenic rs66612022 GRCh38 Chromosome 7, 94409768: 94409768
22 COL1A2 NM_000089.3(COL1A2): c.982G> A (p.Gly328Ser) single nucleotide variant Pathogenic rs66612022 GRCh37 Chromosome 7, 94039080: 94039080
23 COL1A2 NM_000089.3(COL1A2): c.52T> C (p.Cys18Arg) single nucleotide variant Uncertain significance rs200278401 GRCh38 Chromosome 7, 94395083: 94395083
24 COL1A2 NM_000089.3(COL1A2): c.52T> C (p.Cys18Arg) single nucleotide variant Uncertain significance rs200278401 GRCh37 Chromosome 7, 94024395: 94024395
25 COL1A2 NM_000089.3(COL1A2): c.671G> A (p.Arg224His) single nucleotide variant Uncertain significance rs771139732 GRCh38 Chromosome 7, 94408214: 94408214
26 COL1A2 NM_000089.3(COL1A2): c.671G> A (p.Arg224His) single nucleotide variant Uncertain significance rs771139732 GRCh37 Chromosome 7, 94037526: 94037526
27 COL1A2 NM_000089.3(COL1A2): c.1127G> T (p.Gly376Val) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 94039769: 94039769
28 COL1A2 NM_000089.3(COL1A2): c.1127G> T (p.Gly376Val) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 94410457: 94410457

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 KEGG:

38
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512
3 Relaxin signaling pathway hsa04926

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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