MCID: EHL010
MIFTS: 33

Ehlers-Danlos Syndrome Arthrochalasia Type malady

Summaries for Ehlers-Danlos Syndrome Arthrochalasia Type

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46OMIM, 32MalaCards
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MalaCards: Ehlers-Danlos Syndrome Arthrochalasia Type, also known as ehlers-danlos syndrome type 7a, is related to ehlers-danlos syndrome, classic type and osteogenesis imperfecta. An important gene associated with Ehlers-Danlos Syndrome Arthrochalasia Type is COL1A1 (collagen, type I, alpha 1), and among its related pathways are Development Angiotensin activation of ERK and Development Endothelin-1/EDNRA signaling. The compounds Collagenase and nppa have been mentioned in the context of this disorder.

Description from OMIM:46 130060

Aliases & Classifications for Ehlers-Danlos Syndrome Arthrochalasia Type

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

ehlers-danlos syndrome arthrochalasia type 42
ehlers-danlos syndrome type 7a 42 20 22
ehlers-danlos syndrome cardiac valvular type 42
ehlers-danlos syndrome, arthrochalasia type 60
arthrochalasis multiplex congenita 42
ehlers-danlos syndrome, type viia 46
ehlers-danlos syndrome 60
eds viib 60
eds7a 42
eds7b 42


Related Diseases for Ehlers-Danlos Syndrome Arthrochalasia Type

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17GeneCards, 18GeneDecks
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Diseases related to Ehlers-Danlos Syndrome Arthrochalasia Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 187)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, classic type31.4COL1A1, COL1A2
2osteogenesis imperfecta30.8COL1A2, COL1A1
3osteogenesis imperfecta type i30.5COL1A1, COL1A2
4connective tissue disease30.5COL1A2, COL1A1
5ehlers-danlos syndrome30.5COL1A2, COL1A1
6otosclerosis30.4COL1A1, COL1A2
7osteoporosis30.2COL1A2, COL1A1
8ehlers-danlos syndrome type iv11.3
9ehlers-danlos syndrome, hypermobility type11.1
10type iii ehlers-danlos syndrome11.1
11hypermobility syndrome11.0
12type vi ehlers-danlos syndrome11.0
13ehlers-danlos syndrome progeroid type10.7
14ehlers-danlos syndrome dermatosparaxis type10.7
15ehlers-danlos syndrome, musculocontractural type 210.7
16ehlers-danlos syndrome kyphoscoliotic type10.7
17ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
18ehlers-danlos syndrome, kyphoscoliotic form10.6
19ehlers-danlos syndrome, periodontitis type10.6
20ehlers-danlos syndrome, fibronectinemic type10.6
21n syndrome10.6
22aortic aneurysm10.6
23spondylocheirodysplasia, ehlers-danlos syndrome-like10.6
24ehlers-danlos syndrome, musculocontractural type 110.6
25ehlers-danlos syndrome type viib10.6
26ehlers-danlos syndrome dysfibronectinemic type10.5
27ehlers-danlos syndrome, progeroid type, 110.5
28ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency10.5
29x-linked ehlers-danlos syndrome10.5
30cervicitis10.5
31neuropathy10.5
32periodontitis10.5
33joint laxity, familial10.5
34occipital horn syndrome10.5
35cutis laxa10.5
36autosomal recessive type iv ehlers-danlos syndrome10.5
37myocardial infarction10.5
38myopathy10.5
39ehlers-danlos syndrome type 510.5
40ehlers-danlos syndrome, cardiac valvular form10.4
41ehlers–danlos syndrome arthrochalasia type10.4
42autosomal dominant type iv ehlers-danlos syndrome10.4
43intracranial aneurysm10.4
44adult syndrome10.4
45polyneuropathy10.4
46ehlers–danlos syndrome, vascular type10.4
47image syndrome10.4
48ehlers-danlos syndrome beasley cohen type10.4
49ehlers-danlos syndrome, musculocontractural type10.4
50ehlers-danlos syndrome type via10.4

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



Diseases related to ehlers-danlos syndrome arthrochalasia type

Clinical Features for Ehlers-Danlos Syndrome Arthrochalasia Type

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46OMIM
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Clinical features from OMIM:

130060

Drugs & Therapeutics for Ehlers-Danlos Syndrome Arthrochalasia Type

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Ehlers-Danlos Syndrome Arthrochalasia Type

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20GeneTests, 22GTR
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Genetic tests related to Ehlers-Danlos Syndrome Arthrochalasia Type:

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome Type Viia20 COL1A1
2 Ehlers-Danlos Syndrome, Type 7a22

Anatomical Context for Ehlers-Danlos Syndrome Arthrochalasia Type

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Animal Models for Ehlers-Danlos Syndrome Arthrochalasia Type or affiliated genes

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Publications for Ehlers-Danlos Syndrome Arthrochalasia Type

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Genetic Variations for Ehlers-Danlos Syndrome Arthrochalasia Type

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Expression for genes affiliated with Ehlers-Danlos Syndrome Arthrochalasia Type

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ehlers-Danlos Syndrome Arthrochalasia Type

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

Pathways for genes affiliated with Ehlers-Danlos Syndrome Arthrochalasia Type

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12EMD Millipore, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 49PharmGKB
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Pathways related to Ehlers-Danlos Syndrome Arthrochalasia Type according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1COL1A1, COL1A2
2
Development Endothelin-1/EDNRA signaling
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9.1COL1A2, COL1A1
3
Cell adhesion Integrin-mediated cell adhesion and migration
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9.1COL1A2, COL1A1
49.1COL1A2, COL1A1
5
Cell adhesion ECM remodeling
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9.1COL1A1, COL1A2
6
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9.1COL1A1, COL1A2
7
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9.1COL1A1, COL1A2
8
Hide members
9.1COL1A1, COL1A2
9
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9.1COL1A1, COL1A2
109.1COL1A2, COL1A1
11
Hide members
9.1COL1A2, COL1A1
129.1COL1A1, COL1A2
139.1COL1A1, COL1A2
149.1COL1A2, COL1A1
159.1COL1A2, COL1A1
169.1COL1A1, COL1A2
179.1COL1A1, COL1A2
189.1COL1A2, COL1A1
199.1COL1A1, COL1A2
20
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.1COL1A2, COL1A1
21
Hide members
9.1COL1A1, COL1A2
229.1COL1A2, COL1A1
239.1COL1A2, COL1A1
24
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
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9.1COL1A1, COL1A2
259.1COL1A2, COL1A1

Compounds for genes affiliated with Ehlers-Danlos Syndrome Arthrochalasia Type

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11DrugBank, 44Novoseek, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 24HMDB, 2BitterDB
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Compounds related to Ehlers-Danlos Syndrome Arthrochalasia Type according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1Collagenase119.4COL1A2, COL1A1
2nppa449.4COL1A1, COL1A2
3carbodiimide449.4COL1A1, COL1A2
4nppb44 59 2811.4COL1A1, COL1A2
5xbai449.4COL1A1, COL1A2
6ecori449.4COL1A2, COL1A1
7rsai449.3COL1A1, COL1A2
8mspi449.3COL1A2, COL1A1
9procollagen449.3COL1A1, COL1A2
10simvastatin44 49 59 28 11 2414.2COL1A1, COL1A2
11chloramphenicol44 2 1111.2COL1A1, COL1A2
12ribonucleic acid449.1COL1A1, COL1A2
13aspartate449.1COL1A1, COL1A2
14vitamin d449.0COL1A1, COL1A2
15thymidine44 249.8COL1A2, COL1A1

GO Terms for genes affiliated with Ehlers-Danlos Syndrome Arthrochalasia Type

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16Gene Ontology
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Cellular components related to Ehlers-Danlos Syndrome Arthrochalasia Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.1COL1A1, COL1A2
2collagen type IGO:0055849.0COL1A1, COL1A2
3extracellular matrixGO:0310128.8COL1A1, COL1A2

Biological processes related to Ehlers-Danlos Syndrome Arthrochalasia Type according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.4COL1A2, COL1A1
2protein heterotrimerizationGO:0702089.4COL1A2, COL1A1
3cellular response to amino acid stimulusGO:0712309.4COL1A2, COL1A1
4collagen fibril organizationGO:0301999.3COL1A2, COL1A1
5blood vessel developmentGO:0015689.3COL1A1, COL1A2
6collagen catabolic processGO:0305749.3COL1A2, COL1A1
7extracellular matrix disassemblyGO:0226179.2COL1A1, COL1A2
8leukocyte migrationGO:0509009.2COL1A2, COL1A1
9skeletal system developmentGO:0015019.1COL1A2, COL1A1
10blood coagulationGO:0075969.1COL1A1, COL1A2
11platelet activationGO:0301689.0COL1A1, COL1A2
12extracellular matrix organizationGO:0301988.8COL1A2, COL1A1

Molecular functions related to Ehlers-Danlos Syndrome Arthrochalasia Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.1COL1A1, COL1A2
2platelet-derived growth factor bindingGO:0484079.0COL1A1, COL1A2
3extracellular matrix structural constituentGO:0052018.8COL1A1, COL1A2

Products for genes affiliated with Ehlers-Danlos Syndrome Arthrochalasia Type

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Sources for Ehlers-Danlos Syndrome Arthrochalasia Type

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