MCID: EHL021
MIFTS: 53

Ehlers-Danlos Syndrome Type Viib malady

Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Ehlers-Danlos Syndrome Type Viib

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46OMIM, 32MalaCards
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MalaCards: Ehlers-Danlos Syndrome Type Viib, also known as ehlers-danlos syndrome, arthrochalasia type, is related to ehlers-danlos syndrome and osteogenesis imperfecta, and has symptoms including abnormal scarring/cheloids/hypertrophic scars, short stature/dwarfism/nanism and autosomal dominant inheritance. An important gene associated with Ehlers-Danlos Syndrome Type Viib is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Non-integrin membrane-ECM interactions and Cell adhesion ECM remodeling. The compounds cyanogen bromide and Collagenase have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related mouse phenotypes are skeleton and muscle.

Description from OMIM:46 130060

Aliases & Classifications for Ehlers-Danlos Syndrome Type Viib

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Sources:
60UMLS, 48Orphanet, 20GeneTests, 22GTR, 46OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
ehlers-danlos syndrome, arthrochalasia type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
ehlers-danlos syndrome type 7a:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy
eds viib:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ehlers-danlos syndrome type viib 20 22
ehlers-danlos syndrome, arthrochalasia type 48 60
eds viib 48 60
ehlers-danlos syndrome, arthrochalasic type 48
ehlers-danlos syndrome, type viib 46
ehlers-danlos syndrome type 7a 48
ehlers-danlos syndrome type 7b 48
ehlers-danlos syndrome type 7 48
ehlers-danlos syndrome 60
eds viia 48
eds vii 48


External Ids:

OMIM46 130060
ICD10 via Orphanet26 Q79.6

Related Diseases for Ehlers-Danlos Syndrome Type Viib

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17GeneCards, 18GeneDecks
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Diseases in the Ehlers-Danlos Syndrome Type Iv family:

Type Iii Ehlers-Danlos Syndrome Type Vi Ehlers-Danlos Syndrome
Type I Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome Type 5 Ehlers-Danlos Syndrome, Type Vii
Ehlers-Danlos Syndrome Type Via ehlers-danlos syndrome type viib
Ehlers-Danlos Syndrome, Type Viii

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

(show top 50)    (show all 193)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome31.1CD36, COL1A1, COL1A2
2osteogenesis imperfecta30.8COL1A2, COL1A1, CD36
3osteogenesis imperfecta type i30.6COL1A2, COL1A1
4connective tissue disease30.5CD36, COL1A1, COL1A2
5otosclerosis30.4COL1A2, COL1A1, CD36
6cystic fibrosis30.2COL1A2
7collagen disease30.2CD36, COL1A1
8idiopathic juvenile osteoporosis30.2COL1A2, CD36
9osteoporosis30.2COL1A2, COL1A1, CD36
10osteoarthritis30.2CD36, COL1A1, COL1A2
11ehlers-danlos syndrome, classic type30.2COL1A2, COL1A1
12type iii ehlers-danlos syndrome11.1
13hypermobility syndrome11.0
14type vi ehlers-danlos syndrome11.0
15ehlers-danlos syndrome progeroid type10.7
16ehlers-danlos syndrome, musculocontractural type 210.7
17ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
18ehlers-danlos syndrome arthrochalasia type10.7
19type i ehlers-danlos syndrome10.7
20n syndrome10.7
21ehlers-danlos syndrome, kyphoscoliotic form10.6
22ehlers-danlos syndrome, periodontitis type10.6
23ehlers-danlos syndrome, fibronectinemic type10.6
24aortic aneurysm10.6
25spondylocheirodysplasia, ehlers-danlos syndrome-like10.6
26ehlers-danlos syndrome, musculocontractural type 110.6
27ehlers-danlos syndrome dysfibronectinemic type10.5
28ehlers-danlos syndrome, progeroid type, 110.5
29ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency10.5
30x-linked ehlers-danlos syndrome10.5
31cervicitis10.5
32neuropathy10.5
33periodontitis10.5
34joint laxity, familial10.5
35occipital horn syndrome10.5
36cutis laxa10.5
37autosomal recessive type iv ehlers-danlos syndrome10.5
38myocardial infarction10.5
39myopathy10.5
40ehlers-danlos syndrome type 510.5
41ehlers-danlos syndrome, cardiac valvular form10.5
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 Type Viib:



Diseases related to ehlers-danlos syndrome type viib

Clinical Features for Ehlers-Danlos Syndrome Type Viib

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46OMIM, 48Orphanet
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Clinical features from OMIM:

130060

Clinical synopsis from OMIM:

130060

Symptoms:

48 (show all 23)
  • abnormal scarring/cheloids/hypertrophic scars
  • short stature/dwarfism/nanism
  • autosomal dominant inheritance
  • hyperextensible joints/articular hyperlaxity
  • muscle weakness/flaccidity
  • hyperelastic skin/cutaneous hyperlaxity
  • thin skin
  • herniae
  • anomalies of skin, subcutaneous tissue and mucosae
  • rippled skin
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • inguinal/inguinoscrotal/crural hernia
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • restricted joint mobility/joint stiffness/ankylosis
  • joint dislocation/subluxation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • hypertelorism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • epicanthic folds
  • depressed nasal bridge
  • scoliosis

Drugs & Therapeutics for Ehlers-Danlos Syndrome Type Viib

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

Search CenterWatch for Ehlers-Danlos Syndrome Type Viib

Drug clinical trials:

Search ClinicalTrials for Ehlers-Danlos Syndrome Type Viib

Search NIH Clinical Center for Ehlers-Danlos Syndrome Type Viib

Search CenterWatch for Ehlers-Danlos Syndrome Type Viib

Genetic Tests for Ehlers-Danlos Syndrome Type Viib

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

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome Type Viib20 COL1A2
2 Ehlers-Danlos Syndrome, Type 7b22

Anatomical Context for Ehlers-Danlos Syndrome Type Viib

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32MalaCards
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MalaCards organs/tissues related to Ehlers-Danlos Syndrome Type Viib:

32
Skin, Bone

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

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36MGI
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MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome Type Viib:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5CD36, COL1A1, COL1A2
2MP:00053698.2CD36, COL1A1, COL1A2

Publications for Ehlers-Danlos Syndrome Type Viib

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Genetic Variations for Ehlers-Danlos Syndrome Type Viib

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Expression for genes affiliated with Ehlers-Danlos Syndrome Type Viib

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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 Type Viib

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

Pathways for genes affiliated with Ehlers-Danlos Syndrome Type Viib

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

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1CD36, COL1A1
2
Cell adhesion ECM remodeling
Hide members
9.0COL1A2, COL1A1
39.0COL1A1, COL1A2
4
Hide members
9.0COL1A1, COL1A2
59.0COL1A2, COL1A1
69.0COL1A1, COL1A2
7
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
Hide members
9.0COL1A1, COL1A2
8
Development Endothelin-1/EDNRA signaling
Hide members
9.0COL1A1, COL1A2
9
Hide members
9.0COL1A1, COL1A2
10
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
9.0COL1A2, COL1A1
11
Hide members
9.0COL1A1, COL1A2
12
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.0COL1A1, COL1A2
139.0COL1A2, COL1A1
149.0COL1A2, COL1A1
159.0COL1A1, COL1A2
169.0COL1A2, COL1A1
179.0COL1A2, COL1A1
189.0COL1A1, COL1A2
199.0COL1A1, COL1A2
208.5CD36, COL1A1, COL1A2
21
Hide members
8.5CD36, COL1A1, COL1A2
22
Hide members
8.5COL1A2, COL1A1, CD36
238.5CD36, COL1A1, COL1A2

Compounds for genes affiliated with Ehlers-Danlos Syndrome Type Viib

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

(show all 19)
idCompoundScoreTop Affiliating Genes
1cyanogen bromide449.6COL1A2, CD36
2Collagenase119.4COL1A1, COL1A2
3nppa449.3COL1A2, COL1A1
4carbodiimide449.3COL1A1, COL1A2
5nppb44 59 2811.3COL1A1, COL1A2
6hydroxyproline44 11 2411.3CD36, COL1A1
7xbai449.3COL1A1, COL1A2
8ecori449.3COL1A1, COL1A2
9rsai449.3COL1A2, COL1A1
10mspi449.2COL1A1, COL1A2
11glycosaminoglycan449.2COL1A1, CD36
12simvastatin44 49 59 28 11 2414.0COL1A1, COL1A2
13ribonucleic acid449.0COL1A1, COL1A2
14procollagen448.8CD36, COL1A1, COL1A2
15vitamin d448.8COL1A2, COL1A1, CD36
16chloramphenicol44 2 1110.7COL1A1, COL1A2
17estrogen448.7COL1A2, COL1A1, CD36
18cysteine448.6CD36, COL1A1, COL1A2
19serine448.4COL1A2, COL1A1, CD36

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

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.0COL1A1, COL1A2
2collagen type IGO:0055848.9COL1A1, COL1A2
3extracellular matrixGO:0310128.7COL1A1, COL1A2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.3COL1A1, COL1A2
2protein heterotrimerizationGO:0702089.2COL1A2, COL1A1
3cellular response to amino acid stimulusGO:0712309.2COL1A1, COL1A2
4collagen fibril organizationGO:0301999.1COL1A2, COL1A1
5blood vessel developmentGO:0015689.1COL1A1, COL1A2
6collagen catabolic processGO:0305749.0COL1A1, COL1A2
7skeletal system developmentGO:0015019.0COL1A1, COL1A2
8extracellular matrix disassemblyGO:0226178.9COL1A2, COL1A1
9leukocyte migrationGO:0509008.7COL1A1, COL1A2
10platelet activationGO:0301688.7CD36, COL1A1, COL1A2
11blood coagulationGO:0075968.7CD36, COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.0COL1A1, COL1A2
2platelet-derived growth factor bindingGO:0484078.7COL1A1, COL1A2

Products for genes affiliated with Ehlers-Danlos Syndrome Type Viib

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ehlers-Danlos Syndrome Type Viib

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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