MCID: EHL029
MIFTS: 23

Ehlers-Danlos Syndrome, Cardiac Valvular Form malady

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

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

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Sources:
50OMIM, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Ehlers-Danlos Syndrome, Cardiac Valvular Form 50 12
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 50 68 25
Ehlers-Danlos Syndrome, Cardiac Valvular Type 52
 
Ehlers-Danlos Syndrome Cardiac Valvular Type 68
Eds, Cardiac Valvular Type 52
Edscv 68

Characteristics:

Orphanet epidemiological data:

52
ehlers-danlos syndrome, cardiac valvular type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
ehlers-danlos syndrome, cardiac valvular form:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 225320
Orphanet52 ORPHA230851
ICD10 via Orphanet29 Q79.6
UMLS via Orphanet67 C1857034
MedGen35 C1857034
MeSH37 D004535

Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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UniProtKB/Swiss-Prot:68 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 inguinal hernia, pectus excavatum and thin skin. 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:50 225320

Related Diseases for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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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 type11.5

Symptoms for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

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

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Interventional clinical trials:

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

Genetic Tests for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form25

Anatomical Context for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

34
Skin, Bone

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

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Publications for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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Variations for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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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 variantPathogenicrs67162110GRCh37Chr 7, 94041434: 94041434
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

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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

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

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Sources for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet