MCID: EHL029
MIFTS: 16

Ehlers-Danlos Syndrome, Cardiac Valvular Form malady

Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories
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Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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MalaCards based summary: Ehlers-Danlos Syndrome, Cardiac Valvular Form, also known as ehlers-danlos syndrome, cardiac valvular type, is related to ehlers–danlos syndrome arthrochalasia type, and has symptoms including An important gene associated with Ehlers-Danlos Syndrome, Cardiac Valvular Form is COL1A2 (collagen, type I, alpha 2). Affiliated tissues include bone and skin.

Description from OMIM:46 225320

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

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Ehlers-Danlos Syndrome, Cardiac Valvular Form, Aliases & Descriptions:

Name: Ehlers-Danlos Syndrome, Cardiac Valvular Form 46
Ehlers-Danlos Syndrome, Cardiac Valvular Type 48
 
Eds, Cardiac Valvular Type 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
ehlers-danlos syndrome, cardiac valvular type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 225320
ICD10 via Orphanet26 Q79.6
UMLS via Orphanet63 C1857034

Related Diseases for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

idRelated DiseaseScoreTop Affiliating Genes
1ehlers–danlos syndrome arthrochalasia type10.5

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 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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Anatomical Context for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

32
Bone, 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 Name 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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Expression patterns in normal tissues for genes affiliated with Ehlers-Danlos Syndrome, Cardiac Valvular Form

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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

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet