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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Ehlers-Danlos Syndrome, Cardiac Valvular Form 52 12
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 52 70 27
Ehlers-Danlos Syndrome, Cardiac Valvular Type 54
 
Ehlers-Danlos Syndrome Cardiac Valvular Type 70
Eds, Cardiac Valvular Type 54
Edscv 70

Characteristics:

Orphanet epidemiological data:

54
ehlers-danlos syndrome, cardiac valvular type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
ehlers-danlos syndrome, cardiac valvular form:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 225320
Orphanet54 ORPHA230851
UMLS via Orphanet69 C1857034
ICD10 via Orphanet31 Q79.6
MedGen37 C1857034
MeSH39 D004535

Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia64 HP:0000023
2 pectus excavatum64 HP:0000767
3 thin skin64 HP:0000963
4 hyperextensible skin64 HP:0000974
5 soft skin64 HP:0000977
6 bruising susceptibility64 HP:0000978
7 atrophic scars64 HP:0001075
8 joint laxity64 HP:0001388
9 mitral valve prolapse64 HP:0001634
10 mitral regurgitation64 HP:0001653
11 aortic regurgitation64 HP:0001659
12 pes planus64 HP:0001763
13 calcaneovalgus deformity64 HP:0001848
14 genu recurvatum64 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 Form27

Anatomical Context for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

36
Skin, Bone

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet