MCID: EHL029
MIFTS: 14

Ehlers-Danlos Syndrome, Cardiac Valvular Form malady

Genetic diseases (common) category

Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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MalaCards based summary: Ehlers-Danlos Syndrome, Cardiac Valvular Form, is also known as ehlers-danlos syndrome, autosomal recessive, cardiac valvular form, and has symptoms including autosomal recessive inheritance, inguinal hernia and pectus excavatum. An important gene associated with Ehlers-Danlos Syndrome, Cardiac Valvular Form is COL1A2 (collagen, type I, alpha 2). Affiliated tissues include skin.

Description from OMIM:45 225320

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

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

Name: Ehlers-Danlos Syndrome, Cardiac Valvular Form 45 10
 
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 45 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 225320

Related Diseases for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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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 15)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 inguinal hernia HP:0000023
3 pectus excavatum HP:0000767
4 thin skin HP:0000963
5 hyperextensible skin HP:0000974
6 soft skin HP:0000977
7 bruising susceptibility HP:0000978
8 atrophic scars HP:0001075
9 joint laxity HP:0001388
10 mitral valve prolapse HP:0001634
11 mitral regurgitation HP:0001653
12 aortic regurgitation HP:0001659
13 pes planus HP:0001763
14 calcaneovalgus deformity HP:0001848
15 genu recurvatum HP:0002816

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

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Drug clinical trials:

Search ClinicalTrials for Ehlers-Danlos Syndrome, Cardiac Valvular Form

Search 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 Form22

Anatomical Context for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

31
Skin

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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2COL1A2, IVS11DS, G-A, +5single nucleotide variantPathogenic
2COL1A2COL1A2, IVS24DS, G-C, +1single nucleotide variantPathogenic
3COL1A2COL1A2, IVS24, G-A, +1single nucleotide variantPathogenic
4COL1A2COL1A2, IVS1, A-G, +717single nucleotide variantPathogenic
5COL1A2NM_000089.3(COL1A2): c.3601G> T (p.Glu1201Ter)single nucleotide variantPathogenicrs72659343GRCh37Chr 7, 94057679: 94057679
6COL1A2COL1A2, 1-BP INS, 292CinsertionPathogenic

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet