MCID: EHL032
MIFTS: 49

Ehlers-Danlos Syndrome, Type Viib malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases, Eye diseases, Oral diseases categories

Aliases & Classifications for Ehlers-Danlos Syndrome, Type Viib

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Sources:
46OMIM, 9diseasecard, 64Wikipedia, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Ehlers-Danlos Syndrome, Type Viib:

Name: Ehlers-Danlos Syndrome, Type Viib 46
Ehlers-Danlos Syndrome Type 7a 42 20 48 22
Ehlers-Danlos Syndrome Type 7b 42 20 48 22
Ehlers-Danlos Syndrome, Arthrochalasia Type 42 48 61
Ehlers-Danlos Syndrome Type 7 42 20 48
Ehlers-Danlos Syndrome, Cardiac Valvular Type 42 48
Ehlers-Danlos Syndrome, Arthrochalasic Type 42 48
Ehlers-Danlos Syndrome Arthrochalasia Type 64 42
Arthrochalasis Multiplex Congenita 64 42
Ehlers-Danlos Syndrome, Type Viia 46 9
 
Eds, Cardiac Valvular Type 42 48
Eds Viib 48 61
Eds Vii 42 48
Ehlers-Danlos Syndrome, Type Vii, Autosomal Dominant 46
Ehlers-Danlos Syndrome Cardiac Valvular Type 42
Procollagen Type Eds Vii, Mutant 64
Eds Viia 48
Eds7a 42
Eds7b 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
ehlers-danlos syndrome, cardiac valvular type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
ehlers-danlos syndrome, arthrochalasia type:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal
ehlers-danlos syndrome type 7a:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal
ehlers-danlos syndrome type 7b:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM46 130060
ICD10 via Orphanet26 Q79.6
UMLS via Orphanet62 C1857034

Summaries for Ehlers-Danlos Syndrome, Type Viib

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OMIM:46 EDS type VII is distinguished from the other types of EDS by the frequency of congenital hip dislocation and extreme... (130060) more...

MalaCards based summary: Ehlers-Danlos Syndrome, Type Viib, also known as ehlers-danlos syndrome type 7a, is related to ehlers-danlos syndrome and ehlers-danlos syndrome, type i, and has symptoms including thin skin, hyperextensible skin and atypical scarring of skin. An important gene associated with Ehlers-Danlos Syndrome, Type Viib is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Development Endothelin 1 EDNRA signaling and Development Angiotensin activation of ERK. The compounds nppa and carbodiimide have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related mouse phenotype limbs/digits/tail.

Related Diseases for Ehlers-Danlos Syndrome, Type Viib

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Graphical network of diseases related to Ehlers-Danlos Syndrome, Type Viib:



Diseases related to ehlers-danlos syndrome, type viib

Symptoms for Ehlers-Danlos Syndrome, Type Viib

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Symptoms by clinical synopsis from OMIM:

130060

Clinical features from OMIM:

130060

Symptoms:

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

HPO human phenotypes related to Ehlers-Danlos Syndrome, Type Viib:

(show all 38)
id Description Frequency HPO Source Accession
1 thin skin hallmark (90%) HP:0000963
2 hyperextensible skin hallmark (90%) HP:0000974
3 atypical scarring of skin hallmark (90%) HP:0000987
4 muscular hypotonia hallmark (90%) HP:0001252
5 muscle weakness hallmark (90%) HP:0001324
6 joint dislocation hallmark (90%) HP:0001373
7 limitation of joint mobility hallmark (90%) HP:0001376
8 joint hypermobility hallmark (90%) HP:0001382
9 neurological speech impairment hallmark (90%) HP:0002167
10 abnormality of the hip bone hallmark (90%) HP:0003272
11 short stature hallmark (90%) HP:0004322
12 epicanthus typical (50%) HP:0000286
13 hypertelorism typical (50%) HP:0000316
14 micrognathia typical (50%) HP:0000347
15 scoliosis typical (50%) HP:0002650
16 depressed nasal bridge typical (50%) HP:0005280
17 hernia typical (50%) HP:0100790
18 hernia of the abdominal wall occasional (7.5%) HP:0004299
19 reduced bone mineral density occasional (7.5%) HP:0004349
20 autosomal dominant inheritance HP:0000006
21 malar flattening HP:0000272
22 osteopenia HP:0000938
23 hyperextensible skin HP:0000974
24 soft skin HP:0000977
25 bruising susceptibility HP:0000978
26 poor wound healing HP:0001058
27 atrophic scars HP:0001075
28 muscular hypotonia HP:0001252
29 joint laxity HP:0001388
30 breech presentation HP:0001623
31 delayed gross motor development HP:0002194
32 scoliosis HP:0002650
33 increased susceptibility to fractures HP:0002659
34 kyphosis HP:0002808
35 premature osteoarthritis HP:0003088
36 mild short stature HP:0003502
37 congenital bilateral hip dislocation HP:0008780
38 midface retrusion HP:0011800

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Type Viib

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Drug clinical trials:

Search ClinicalTrials for Ehlers-Danlos Syndrome, Type Viib

Search NIH Clinical Center for Ehlers-Danlos Syndrome, Type Viib

Genetic Tests for Ehlers-Danlos Syndrome, Type Viib

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Genetic tests related to Ehlers-Danlos Syndrome, Type Viib:

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type Vii20
2 Ehlers-Danlos Syndrome Type Viia20 COL1A1
3 Ehlers-Danlos Syndrome Type Viib20 COL1A2
4 Ehlers-Danlos Syndrome, Type 7a22
5 Ehlers-Danlos Syndrome, Type 7b22

Anatomical Context for Ehlers-Danlos Syndrome, Type Viib

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

31
Skin, Bone

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

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL1A2, COL1A1

Publications for Ehlers-Danlos Syndrome, Type Viib

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Articles related to Ehlers-Danlos Syndrome, Type Viib:

idTitleAuthorsYear
1
Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB. (20960610)
2008
2
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. (8071956)
1994
3
Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed in vivo and in vitro is determined by the conformation of the retained N-propeptide. (8340401)
1993
4
Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section. (1577745)
1992
5
Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB. (1536766)
1992
6
Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain. (3680255)
1987

Variations for Ehlers-Danlos Syndrome, Type Viib

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Clinvar genetic disease variations for Ehlers-Danlos Syndrome, Type Viib:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2COL1A2, IVS11DS, G-A, +5single nucleotide variantPathogenic
2COL1A2COL1A2, IVS24DS, G-C, +1single nucleotide variantPathogenic
3COL1A2COL1A2, IVS24, G-A, +1single nucleotide variantPathogenic
4COL1A2COL1A2, IVS1, A-G, +717single nucleotide variantPathogenic
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, Type Viib

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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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Pathways related to Ehlers-Danlos Syndrome, Type Viib according to GeneCards Suite gene sharing:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling FAK signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
9.1COL1A2, COL1A1
2
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
9.1COL1A1, COL1A2
3
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
9.1COL1A2, COL1A1
4
Show member pathways
9.1COL1A1, COL1A2
5
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
9.1COL1A2, COL1A1
6
Show member pathways
9.1COL1A2, COL1A1
7
Show member pathways
9.1COL1A2, COL1A1
89.1COL1A2, COL1A1
9
Show member pathways
9.1COL1A2, COL1A1
109.1COL1A1, COL1A2
119.1COL1A2, COL1A1
129.1COL1A2, COL1A1
139.1COL1A2, COL1A1
149.1COL1A1, COL1A2
15
Show member pathways
9.1COL1A2, COL1A1
16
Show member pathways
Metalloproteases in connective tissue degradation
9.1COL1A2, COL1A1
179.1COL1A1, COL1A2
189.1COL1A2, COL1A1
19
Show member pathways
9.1COL1A2, COL1A1

Compounds for genes affiliated with Ehlers-Danlos Syndrome, Type Viib

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Compounds related to Ehlers-Danlos Syndrome, Type Viib according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1nppa449.4COL1A2, COL1A1
2carbodiimide449.4COL1A2, COL1A1
3nppb28 44 6011.4COL1A2, COL1A1
4xbai449.4COL1A1, COL1A2
5ecori449.4COL1A2, COL1A1
6rsai449.4COL1A2, COL1A1
7mspi449.3COL1A2, COL1A1
8procollagen449.3COL1A1, COL1A2
9simvastatin44 50 60 28 24 1114.3COL1A2, COL1A1
10chloramphenicol44 1 50 1112.2COL1A2, COL1A1
11ribonucleic acid449.2COL1A2, COL1A1
12vitamin d449.1COL1A1, COL1A2
13oligonucleotide449.1COL1A2, COL1A1
14thymidine44 2410.0COL1A2, COL1A1
15aspartate448.8COL1A2, COL1A1

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

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Cellular components related to Ehlers-Danlos Syndrome, Type Viib according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.1COL1A2, COL1A1
2collagen type IGO:00055849.0COL1A2, COL1A1
3extracellular matrixGO:00310128.8COL1A2, COL1A1

Biological processes related to Ehlers-Danlos Syndrome, Type Viib according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.4COL1A2, COL1A1
2protein heterotrimerizationGO:00702089.4COL1A2, COL1A1
3collagen fibril organizationGO:00301999.4COL1A1, COL1A2
4blood vessel developmentGO:00015689.3COL1A1, COL1A2
5cellular response to amino acid stimulusGO:00712309.3COL1A2, COL1A1
6collagen catabolic processGO:00305749.3COL1A2, COL1A1
7extracellular matrix disassemblyGO:00226179.2COL1A1, COL1A2
8leukocyte migrationGO:00509009.2COL1A2, COL1A1
9skeletal system developmentGO:00015019.1COL1A2, COL1A1
10blood coagulationGO:00075969.1COL1A2, COL1A1
11platelet activationGO:00301689.0COL1A1, COL1A2
12extracellular matrix organizationGO:00301988.8COL1A2, COL1A1

Molecular functions related to Ehlers-Danlos Syndrome, Type Viib according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428029.1COL1A2, COL1A1
2platelet-derived growth factor bindingGO:00484079.0COL1A2, COL1A1
3extracellular matrix structural constituentGO:00052018.8COL1A2, COL1A1

Sources for Ehlers-Danlos Syndrome, Type Viib

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet