EDSCV
MCID: EHL029
MIFTS: 23

Ehlers-Danlos Syndrome, Cardiac Valvular Form (EDSCV) malady

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

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

Aliases & Descriptions for Ehlers-Danlos Syndrome, Cardiac Valvular Form:

Name: Ehlers-Danlos Syndrome, Cardiac Valvular Form 54 13
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 54 66 29
Ehlers-Danlos Syndrome, Cardiac Valvular Type 56
Ehlers-Danlos Syndrome Cardiac Valvular Type 66
Eds, Cardiac Valvular Type 56
Edscv 66

Characteristics:

Orphanet epidemiological data:

56
ehlers-danlos syndrome, cardiac valvular type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

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


Classifications:



External Ids:

OMIM 54 225320
Orphanet 56 ORPHA230851
UMLS via Orphanet 70 C1857034
ICD10 via Orphanet 34 Q79.6
MedGen 40 C1857034
MeSH 42 D004535

Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Form

UniProtKB/Swiss-Prot : 66 Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. In addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation, patients have mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency.

MalaCards based summary : Ehlers-Danlos Syndrome, Cardiac Valvular Form, also known as ehlers-danlos syndrome, autosomal recessive, cardiac valvular form, is related to cardiac-valvular ehlers-danlos syndrome, and has symptoms including joint laxity, pectus excavatum and inguinal hernia. An important gene associated with Ehlers-Danlos Syndrome, Cardiac Valvular Form is COL1A2 (Collagen Type I Alpha 2 Chain). Affiliated tissues include skin and bone.

Description from OMIM: 225320

Related Diseases for Ehlers-Danlos Syndrome, Cardiac Valvular Form

Diseases in the Cardiac-Valvular Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

id Related Disease Score Top Affiliating Genes
1 cardiac-valvular ehlers-danlos syndrome 11.4

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

Symptoms by clinical synopsis from OMIM:

225320

Clinical features from OMIM:

225320

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

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 joint laxity 32 HP:0001388
2 pectus excavatum 32 HP:0000767
3 inguinal hernia 32 HP:0000023
4 pes planus 32 HP:0001763
5 thin skin 32 HP:0000963
6 genu recurvatum 32 HP:0002816
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 Form

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

Genetic Tests for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

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

Anatomical Context for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

39
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Cardiac Valvular Form

Variations for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

6
id 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.70+717A> G single nucleotide variant Pathogenic rs72656354 GRCh38 Chromosome 7, 94395818: 94395818
5 COL1A2 NM_000089.3(COL1A2): c.3601G> T (p.Glu1201Ter) single nucleotide variant Pathogenic rs72659343 GRCh37 Chromosome 7, 94057679: 94057679
6 COL1A2 NM_000089.3(COL1A2): c.293dupC (p.Arg99Terfs) duplication Pathogenic rs797044459 GRCh37 Chromosome 7, 94033881: 94033881

Expression for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

Pathways for Ehlers-Danlos Syndrome, Cardiac Valvular Form

GO Terms for Ehlers-Danlos Syndrome, Cardiac Valvular Form

Sources for Ehlers-Danlos Syndrome, Cardiac Valvular Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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