MCID: EHL091
MIFTS: 22

Ehlers-Danlos Syndrome Type 7a

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome Type 7a

MalaCards integrated aliases for Ehlers-Danlos Syndrome Type 7a:

Name: Ehlers-Danlos Syndrome Type 7a 60
Eds Viia 60

Characteristics:

Orphanet epidemiological data:

60
ehlers-danlos syndrome type 7a
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 60 ORPHA99875

Summaries for Ehlers-Danlos Syndrome Type 7a

MalaCards based summary : Ehlers-Danlos Syndrome Type 7a, also known as eds viia, is related to ehlers-danlos syndrome and ehlers-danlos syndrome, arthrochalasia type, 1. An important gene associated with Ehlers-Danlos Syndrome Type 7a is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include skin and bone.

Related Diseases for Ehlers-Danlos Syndrome Type 7a

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome Type 7a:



Diseases related to Ehlers-Danlos Syndrome Type 7a

Symptoms & Phenotypes for Ehlers-Danlos Syndrome Type 7a

Drugs & Therapeutics for Ehlers-Danlos Syndrome Type 7a

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome Type 7a

Genetic Tests for Ehlers-Danlos Syndrome Type 7a

Anatomical Context for Ehlers-Danlos Syndrome Type 7a

MalaCards organs/tissues related to Ehlers-Danlos Syndrome Type 7a:

42
Skin, Bone

Publications for Ehlers-Danlos Syndrome Type 7a

Articles related to Ehlers-Danlos Syndrome Type 7a:

# Title Authors Year
1
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. ( 18409203 )
2008

Variations for Ehlers-Danlos Syndrome Type 7a

Expression for Ehlers-Danlos Syndrome Type 7a

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome Type 7a.

Pathways for Ehlers-Danlos Syndrome Type 7a

GO Terms for Ehlers-Danlos Syndrome Type 7a

Cellular components related to Ehlers-Danlos Syndrome Type 7a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.5 COL1A1 COL5A1 COL5A2
2 endoplasmic reticulum lumen GO:0005788 9.43 COL1A1 COL5A1 COL5A2
3 collagen-containing extracellular matrix GO:0062023 9.33 COL1A1 COL5A1 COL5A2
4 collagen trimer GO:0005581 9.13 COL1A1 COL5A1 COL5A2
5 collagen type V trimer GO:0005588 8.62 COL5A1 COL5A2

Biological processes related to Ehlers-Danlos Syndrome Type 7a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.54 COL1A1 COL5A1 COL5A2
2 skeletal system development GO:0001501 9.48 COL1A1 COL5A2
3 ossification GO:0001503 9.46 COL1A1 COL5A2
4 cellular response to amino acid stimulus GO:0071230 9.43 COL1A1 COL5A2
5 blood vessel development GO:0001568 9.4 COL1A1 COL5A1
6 collagen biosynthetic process GO:0032964 9.32 COL1A1 COL5A1
7 eye morphogenesis GO:0048592 9.26 COL5A1 COL5A2
8 negative regulation of endodermal cell differentiation GO:1903225 9.16 COL5A1 COL5A2
9 collagen fibril organization GO:0030199 9.13 COL1A1 COL5A1 COL5A2
10 skin development GO:0043588 8.8 COL1A1 COL5A1 COL5A2

Molecular functions related to Ehlers-Danlos Syndrome Type 7a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 9.16 COL1A1 COL5A1
2 extracellular matrix structural constituent GO:0005201 9.13 COL1A1 COL5A1 COL5A2
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL1A1 COL5A1 COL5A2

Sources for Ehlers-Danlos Syndrome Type 7a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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