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:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Ehlers-Danlos Syndrome, Cardiac Valvular Form 51 12
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 51 69 26
Ehlers-Danlos Syndrome, Cardiac Valvular Type 53
 
Ehlers-Danlos Syndrome Cardiac Valvular Type 69
Eds, Cardiac Valvular Type 53
Edscv 69

Characteristics:

Orphanet epidemiological data:

53
ehlers-danlos syndrome, cardiac valvular type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
ehlers-danlos syndrome, cardiac valvular form:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 225320
Orphanet53 ORPHA230851
UMLS via Orphanet68 C1857034
ICD10 via Orphanet30 Q79.6
MedGen36 C1857034
MeSH38 D004535

Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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UniProtKB/Swiss-Prot:69 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:51 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 type11.4

Symptoms for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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Symptoms by clinical synopsis from OMIM:

225320

Clinical features from OMIM:

225320

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

 63 (show all 14)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia63 HP:0000023
2 pectus excavatum63 HP:0000767
3 thin skin63 HP:0000963
4 hyperextensible skin63 HP:0000974
5 soft skin63 HP:0000977
6 bruising susceptibility63 HP:0000978
7 atrophic scars63 HP:0001075
8 joint laxity63 HP:0001388
9 mitral valve prolapse63 HP:0001634
10 mitral regurgitation63 HP:0001653
11 aortic regurgitation63 HP:0001659
12 pes planus63 HP:0001763
13 calcaneovalgus deformity63 HP:0001848
14 genu recurvatum63 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 Form26

Anatomical Context for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

35
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, +5SNVPathogenicChr na, -1: -1
2COL1A2COL1A2, IVS24DS, G-C, +1SNVPathogenicChr na, -1: -1
3COL1A2NM_000089.3(COL1A2): c.1404+1G> ASNVPathogenicrs67162110GRCh37Chr 7, 94041434: 94041434
4COL1A2NM_000089.3(COL1A2): c.70+717A> GSNVPathogenicrs72656354GRCh38Chr 7, 94395818: 94395818
5COL1A2NM_000089.3(COL1A2): c.3601G> T (p.Glu1201Ter)SNVPathogenicrs72659343GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet