MCID: EHL032
MIFTS: 47

Ehlers-Danlos Syndrome, Type Viib malady

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Type Viib

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

Name: Ehlers-Danlos Syndrome, Type Viib 49 22
Ehlers-Danlos Syndrome Type 7a 45 22 51 24
Eds Viib 22 51 65 67
Arthrochalasis Multiplex Congenita 68 45 67
Eds Viia 22 51 67
Ehlers-Danlos Syndrome, Arthrochalasia Type 45 65
Ehlers-Danlos Syndrome Arthrochalasia Type 68 67
Ehlers-Danlos Syndrome, Type Viia 49 11
Ehlers-Danlos Syndrome Type 7b 51 24
 
Eds7a 45 67
Ehlers-Danlos Syndrome Type Vii Autosomal Dominant 67
Ehlers-Danlos Syndrome Arthrochalasic Type 67
Procollagen Type Eds Vii, Mutant 68
Eds Vii Mutant Procollagen Type 67
Ehlers-Danlos Syndrome 7b 67
Ehlers-Danlos Syndrome 7a 67
Edsviib 22
Eds7b 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
ehlers-danlos syndrome type 7a:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal
eds viib:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 130060
Orphanet51 99875, 99876
ICD10 via Orphanet28 Q79.6
MeSH36 D004535

Summaries for Ehlers-Danlos Syndrome, Type Viib

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OMIM:49 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, type vi and ehlers-danlos syndrome, classic type, and has symptoms including thin skin, hyperextensible skin and atypical scarring of skin. An important gene associated with Ehlers-Danlos Syndrome, Type Viib is COL1A1 (Collagen, Type I, Alpha 1), and among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include skin, bone and eye.

NIH Rare Diseases:45 Ehlers-danlos syndrome (eds), arthrochalasia type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis). eds, arthrochalasia type is caused by changes (mutations) in the col1a1 gene or the col1a2 gene and is inherited in an autosomal dominant manner. treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. last updated: 6/2/2015

UniProtKB/Swiss-Prot:67 Ehlers-Danlos syndrome 7A: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations.

Related Diseases for Ehlers-Danlos Syndrome, Type Viib

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Diseases in the Ehlers-Danlos Syndrome family:

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

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

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, type vi30.1COL1A1, COL5A1
2ehlers-danlos syndrome, classic type29.8COL1A1, COL1A2, COL5A1
3ehlers-danlos syndrome10.9
4ehlers-danlos syndrome, arthrochalasic type10.5
5ehlers-danlos syndrome, type iv10.2
6ehlers-danlos syndrome, type viic10.2
7ehlers-danlos syndrome, type iii10.2
8osteolysis syndrome recessive10.0COL1A1, COL1A2
9classic rett syndrome10.0COL1A1, COL1A2
10congenital trigeminal anesthesia10.0COL1A1, COL1A2
11idiopathic linear interstitial keratitis10.0COL1A1, COL1A2
12pervasive developmental disorder not otherwise specified10.0COL1A1, COL1A2
13col4a1-related disorders10.0COL1A1, COL1A2
14eif4g1-related parkinson disease10.0COL1A1, COL1A2
15larsen-like syndrome10.0COL1A1, COL1A2
16cogan-reese syndrome10.0COL1A1, COL1A2
17splenic flexure cancer10.0COL1A1, COL1A2
18xanthinuria10.0COL1A1, COL1A2
19depressed scar10.0COL1A1, COL1A2
20anterior cruciate ligament tears9.9COL1A1, COL1A2
21osteomyelitis9.9COL1A1, COL1A2
22sclerosing hemangioma9.9COL1A1, COL1A2
23sapho syndrome9.9COL1A1, COL1A2
24scrotal carcinoma9.8COL1A1, COL1A2
25deafness, x-linked 69.8ALB, COL1A1, COL1A2
26bone ewing's sarcoma9.8COL1A1, COL1A2
27autosomal dominant microcephaly9.7COL1A1, COL1A2, COL5A1
28caffey disease9.7COL1A1, COL1A2, COL5A1
29osteogenesis imperfecta, type ii9.7COL1A1, COL1A2, COL5A1
30mental retardation, autosomal recessive 359.7COL1A1, COL1A2, COL5A1
31osteogenesis imperfecta, type iii9.7COL1A1, COL1A2, COL5A1
32osteogenesis imperfecta, type iv9.7COL1A1, COL1A2, COL5A1
33colon adenocarcinoma9.7COL1A1, COL1A2, COL5A1
34ehrlichiosis9.7COL1A1, COL1A2, COL5A1
35constipation9.7COL1A1, COL1A2, COL5A1
36osteoporosis9.6COL1A1, COL1A2, COL5A1
37ehlers-danlos syndrome, type viib9.5ALB, COL1A1, COL1A2, COL5A1

Graphical network of the top 20 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:

 51 (show all 12)
  • abnormal scarring/cheloids/hypertrophic scars
  • thin skin
  • hyperelastic skin/cutaneous hyperlaxity
  • muscle weakness/flaccidity
  • hyperextensible joints/articular hyperlaxity
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • herniae
  • anomalies of skin, subcutaneous tissue and mucosae
  • 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 37)
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 of the abdominal wall occasional (7.5%) HP:0004299
18 reduced bone mineral density occasional (7.5%) HP:0004349
19 autosomal dominant inheritance HP:0000006
20 malar flattening HP:0000272
21 osteopenia HP:0000938
22 hyperextensible skin HP:0000974
23 soft skin HP:0000977
24 bruising susceptibility HP:0000978
25 poor wound healing HP:0001058
26 atrophic scars HP:0001075
27 muscular hypotonia HP:0001252
28 joint laxity HP:0001388
29 breech presentation HP:0001623
30 delayed gross motor development HP:0002194
31 scoliosis HP:0002650
32 increased susceptibility to fractures HP:0002659
33 kyphosis HP:0002808
34 premature osteoarthritis HP:0003088
35 mild short stature HP:0003502
36 congenital bilateral hip dislocation HP:0008780
37 hypoplasia of midface HP:0011800

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Type Viib

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Interventional clinical trials:

Search ClinicalTrials, 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 Viia22 COL1A1
2 Ehlers-Danlos Syndrome Type Viib22 COL1A2
3 Ehlers-Danlos Syndrome, Type 7a24
4 Ehlers-Danlos Syndrome, Type 7b24

Anatomical Context for Ehlers-Danlos Syndrome, Type Viib

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

33
Skin, Bone, Eye

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

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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
1ALBNM_000477.5(ALB): c.71G> A (p.Arg24Gln)single nucleotide variantPathogenicrs74821926GRCh37Chr 4, 74270115: 74270115

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 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3COL1A1, COL1A2
29.3COL1A1, COL1A2
39.3COL1A1, COL1A2
49.3COL1A1, COL1A2
59.3COL1A1, COL1A2
69.3COL1A1, COL1A2
79.3COL1A1, COL1A2
8
Show member pathways
8.8ALB, COL1A1, COL1A2
9
Show member pathways
8.8ALB, COL1A1, COL1A2
10
Show member pathways
8.5COL1A1, COL1A2, COL5A1
11
Show member pathways
8.5COL1A1, COL1A2, COL5A1
12
Show member pathways
8.5COL1A1, COL1A2, COL5A1
138.5COL1A1, COL1A2, COL5A1
148.5COL1A1, COL1A2, COL5A1
15
Show member pathways
8.5COL1A1, COL1A2, COL5A1
168.5COL1A1, COL1A2, COL5A1
178.5COL1A1, COL1A2, COL5A1

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
1collagen type I trimerGO:000558410.0COL1A1, COL1A2
2collagen trimerGO:00055818.5COL1A1, COL1A2, COL5A1
3endoplasmic reticulum lumenGO:00057888.4COL1A1, COL1A2, COL5A1
4extracellular matrixGO:00310128.2COL1A1, COL1A2, COL5A1
5extracellular regionGO:00055768.0ALB, COL1A1, COL1A2, COL5A1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.0COL1A1, COL1A2
2protein heterotrimerizationGO:00702089.8COL1A1, COL1A2
3leukocyte migrationGO:00509009.8COL1A1, COL1A2
4collagen biosynthetic processGO:00329649.7COL1A1, COL5A1
5skeletal system developmentGO:00015019.7COL1A1, COL1A2
6regulation of immune responseGO:00507769.7COL1A1, COL1A2
7cellular response to amino acid stimulusGO:00712309.6COL1A1, COL1A2
8skin developmentGO:00435889.5COL1A1, COL5A1
9receptor-mediated endocytosisGO:00068989.1ALB, COL1A1, COL1A2
10blood vessel developmentGO:00015688.9COL1A1, COL1A2, COL5A1
11collagen fibril organizationGO:00301998.9COL1A1, COL1A2, COL5A1
12extracellular matrix disassemblyGO:00226178.8COL1A1, COL1A2, COL5A1
13collagen catabolic processGO:00305748.8COL1A1, COL1A2, COL5A1
14blood coagulationGO:00075968.7ALB, COL1A1, COL1A2
15extracellular matrix organizationGO:00301988.5COL1A1, COL1A2, COL5A1
16platelet activationGO:00301688.5ALB, COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484078.5COL1A1, COL1A2, COL5A1
2extracellular matrix structural constituentGO:00052018.2COL1A1, COL1A2, COL5A1

Sources for Ehlers-Danlos Syndrome, Type Viib

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet