MCID: EHL029
MIFTS: 16

Ehlers-Danlos Syndrome, Cardiac Valvular Form malady

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

Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 bone and skin.

Description from OMIM:46 225320

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

About this section
Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Cardiovascular diseases, Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
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 46
ehlers-danlos syndrome, cardiac valvular type 48
eds, cardiac valvular type 48


External Ids:

OMIM46 225320
ICD10 via Orphanet26 Q79.6

Related Diseases for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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 type10.4

Clinical Features for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

225320

Clinical synopsis from OMIM:

225320

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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Ehlers-Danlos Syndrome, Cardiac Valvular Form

Drug clinical trials:

Search ClinicalTrials for Ehlers-Danlos Syndrome, Cardiac Valvular Form

Search NIH Clinical Center for Ehlers-Danlos Syndrome, Cardiac Valvular Form

Search CenterWatch for Ehlers-Danlos Syndrome, Cardiac Valvular Form

Genetic Tests for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section

Anatomical Context for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section
Sources:
32MalaCards
See all sources

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

About this section

Publications for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section

Genetic Variations for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Ehlers-Danlos Syndrome, Cardiac Valvular Form

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

About this section

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

About this section

GO Terms for genes affiliated with Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ehlers-Danlos Syndrome, Cardiac Valvular Form

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet