MCID: EHL029
MIFTS: 16

Ehlers-Danlos Syndrome, Cardiac Valvular Form malady

Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories

Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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48OMIM, 34MalaCards
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MalaCards: Ehlers-Danlos Syndrome, Cardiac Valvular Form, also known as ehlers-danlos syndrome, cardiac valvular type, is related to ehlers–danlos syndrome arthrochalasia type. An important gene associated with Ehlers-Danlos Syndrome, Cardiac Valvular Form is COL1A2 (collagen, type I, alpha 2). Affiliated tissues include skin and bone.

Description from OMIM:48 225320

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

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48OMIM, 50Orphanet, 64UMLS via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
ehlers-danlos syndrome, cardiac valvular type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ehlers-danlos syndrome, cardiac valvular form 48
ehlers-danlos syndrome, cardiac valvular type 50
eds, cardiac valvular type 50


External Ids:

UMLS via Orphanet64 C1857034
OMIM48 225320
ICD10 via Orphanet27 Q79.6

Related Diseases for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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18GeneCards, 19GeneDecks
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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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48OMIM
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Symptoms by clinical synopsis from OMIM:

225320

Clinical features from OMIM:

225320

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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34MalaCards
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Ehlers-Danlos Syndrome, Cardiac Valvular Form:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL1A2COL1A2, IVS11DS, G-A, +5single nucleotide variantPathogenic/card/ehlers_danlos_syndrome_cardiac_valvular_form
2COL1A2COL1A2, IVS24DS, G-C, +1single nucleotide variantPathogenic/card/ehlers_danlos_syndrome_cardiac_valvular_form
3COL1A2COL1A2, IVS24, G-A, +1single nucleotide variantPathogenic/card/ehlers_danlos_syndrome_cardiac_valvular_form
4COL1A2COL1A2, IVS1, A-G, +717single nucleotide variantPathogenic/card/ehlers_danlos_syndrome_cardiac_valvular_form
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Ehlers-Danlos Syndrome, Cardiac Valvular Form

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet