MCID: EHL029
MIFTS: 21

Ehlers-Danlos Syndrome, Cardiac Valvular Form malady

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

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

About this section

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

Name: Ehlers-Danlos Syndrome, Cardiac Valvular Form 49 11
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 67 24
 
Ehlers-Danlos Syndrome Cardiac Valvular Type 67
Edscv 67

Characteristics:

HPO:

61
ehlers-danlos syndrome, cardiac valvular form:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 225320
MedGen34 C1857034
MeSH36 D004535

Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section
UniProtKB/Swiss-Prot:67 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 ehlers-danlos syndrome, cardiac valvular type, and has symptoms including genu recurvatum, calcaneovalgus deformity and pes planus. An important gene associated with Ehlers-Danlos Syndrome, Cardiac Valvular Form is COL1A2 (Collagen Type I Alpha 2). Affiliated tissues include skin and bone.

Description from OMIM:49 225320

Related Diseases for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section

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

Ehlers-Danlos Syndrome, Cardiac Valvular Type

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

idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, cardiac valvular type11.9

Symptoms for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section

Symptoms by clinical synopsis from OMIM:

225320

Clinical features from OMIM:

225320

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

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

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

About this section

Interventional clinical trials:

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

Genetic Tests for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section

Anatomical Context for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section

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

33
Skin, Bone

Animal Models for Ehlers-Danlos Syndrome, Cardiac Valvular Form or affiliated genes

About this section

Publications for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section

Variations for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2COL1A2, IVS11DS, G-A, +5single nucleotide variantPathogenic
2COL1A2COL1A2, IVS24DS, G-C, +1single nucleotide variantPathogenic
3COL1A2NM_000089.3(COL1A2): c.1404+1G> Asingle nucleotide variantPathogenicrs67162110GRCh38Chr 7, 94412122: 94412122
4COL1A2NM_000089.3(COL1A2): c.70+717A> Gsingle nucleotide variantPathogenicrs72656354GRCh38Chr 7, 94395818: 94395818
5COL1A2NM_000089.3(COL1A2): c.3601G> T (p.Glu1201Ter)single nucleotide variantPathogenicrs72659343GRCh37Chr 7, 94057679: 94057679
6COL1A2NM_000089.3(COL1A2): c.293dupC (p.Arg99Terfs)duplicationPathogenicrs797044459GRCh37Chr 7, 94033881: 94033881

Expression for genes affiliated with Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

Pathways for genes affiliated with Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section

GO Terms for genes affiliated with Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section

Sources for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet