EDSCV
MCID: EHL061
MIFTS: 30

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 74 29
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 53 74 29 6
Cardiac-Valvular Ehlers-Danlos Syndrome 53 59
Cardiac-Valvular Eds 53 59
Edscv 57 74
Cveds 53 59
Ehlers-Danlos Syndrome Cardiac Valvular Type 37
Eds, Cardiac Valvular Type 53

Characteristics:

Orphanet epidemiological data:

59
cardiac-valvular ehlers-danlos syndrome
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:



External Ids:

KEGG 37 H02241
MeSH 44 D004535
ICD10 via Orphanet 34 Q79.6
UMLS via Orphanet 73 C1857034
Orphanet 59 ORPHA230851

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: 230851DefinitionEhlers-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 and brittle bone disorder. 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

KEGG : 37
Ehlers-Danlos syndrome cardiac valvular type (EDSCV) is a rare autosomal recessive form of EDS. In addition to the usual skin and joint involvement, patients appear to be at increased risk for cardiac valvular dysfunction. Mutations in the COL1A2 gene that encodes type I collagen can give rise to EDSCV.

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 225320 PS130000

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:

(showing 6, show less)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 11.3
2 brittle bone disorder 10.3
3 ptosis 10.3
4 heart valve disease 10.3
5 col1a1/2-related osteogenesis imperfecta 10.3
6 hypermobile ehlers-danlos syndrome 10.3

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Cardiac Valvular Type:



Diseases related to Ehlers-Danlos Syndrome, Cardiac Valvular Type

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

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

32 (showing 14, show less)
# 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 valve prolapse 32 HP:0001634
8 mitral regurgitation 32 HP:0001653
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 calcaneovalgus deformity 32 HP:0001848
14 soft skin 32 HP:0000977

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 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 29 COL1A2
2 Ehlers-Danlos Syndrome, Cardiac Valvular Type 29

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

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

(showing 7, show less)
# Title Authors PMID Year
1
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. 8 71
16816023 2006
2
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. 8 71
15077201 2004
3
Existence of malfunctioning pro alpha2(I) collagen genes in a patient with a pro alpha 2(I)-chain-defective variant of Ehlers-Danlos syndrome. 8 71
3383844 1988
4
Case report and study of collagen metabolism in Ehlers-Danlos syndrome type II. 8 71
3049731 1988
5
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. 71
9295084 1997
6
Cardiovascular complications in the Ehlers-Danlos syndrome with minimal external findings. 8
2952379 1987
7
Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2. 38
30821104 2019

Variations for Ehlers-Danlos Syndrome, Cardiac Valvular Type

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

6 (showing 15, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
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 7:94041434-94041434 7:94412122-94412122
4 COL1A2 NM_000089.3(COL1A2): c.70+717A> G single nucleotide variant Pathogenic rs72656354 7:94025130-94025130 7:94395818-94395818
5 COL1A2 NM_000089.3(COL1A2): c.3601G> T (p.Glu1201Ter) single nucleotide variant Pathogenic rs72659343 7:94057679-94057679 7:94428367-94428367
6 COL1A2 NM_000089.3(COL1A2): c.293dup (p.Pro98_Arg99insTer) duplication Pathogenic rs797044459 7:94033881-94033881 7:94404569-94404569
7 COL1A2 NM_000089.3(COL1A2): c.1127G> T (p.Gly376Val) single nucleotide variant Pathogenic 7:94039769-94039769 7:94410457-94410457
8 COL1A2 NM_000089.3(COL1A2): c.982G> A (p.Gly328Ser) single nucleotide variant Pathogenic rs66612022 7:94039080-94039080 7:94409768-94409768
9 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 7:94055771-94055771 7:94426459-94426459
10 COL1A2 NM_000089.3(COL1A2): c.3047C> A (p.Pro1016His) single nucleotide variant Uncertain significance rs377278762 7:94055784-94055784 7:94426472-94426472
11 COL1A2 NM_000089.3(COL1A2): c.3853A> C (p.Asn1285His) single nucleotide variant Uncertain significance rs144797861 7:94058641-94058641 7:94429329-94429329
12 COL1A2 NM_000089.3(COL1A2): c.286A> G (p.Met96Val) single nucleotide variant Uncertain significance rs763509640 7:94033874-94033874 7:94404562-94404562
13 COL1A2 NM_000089.3(COL1A2): c.52T> C (p.Cys18Arg) single nucleotide variant Uncertain significance rs200278401 7:94024395-94024395 7:94395083-94395083
14 COL1A2 NM_000089.3(COL1A2): c.671G> A (p.Arg224His) single nucleotide variant Uncertain significance rs771139732 7:94037526-94037526 7:94408214-94408214
15 COL1A2 NM_000089.3(COL1A2): c.594+5A> T single nucleotide variant Benign/Likely benign rs200744314 7:94035620-94035620 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 KEGG:

37 (showing 3, show less)
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512
3 Relaxin signaling pathway hsa04926

GO Terms for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Sources for Ehlers-Danlos Syndrome, Cardiac Valvular Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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