MCID: EHL032
MIFTS: 48

Ehlers-Danlos Syndrome, Type Viib malady

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

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 50
Eds Viib 23 52 68 66
Ehlers-Danlos Syndrome, Arthrochalasia Type 46 52 66
Eds Viia 23 52 68
Arthrochalasis Multiplex Congenita 46 68
Ehlers-Danlos Syndrome, Type Viia 50 12
Ehlers-Danlos Syndrome Type 7a 46 52
Ehlers-Danlos Syndrome 7b 68 25
Ehlers-Danlos Syndrome 7a 68 25
Eds7a 46 68
Ehlers-Danlos Syndrome, Type Vii, Autosomal Dominant 50
Ehlers-Danlos Syndrome Type Vii Autosomal Dominant 68
 
Ehlers-Danlos Syndrome, Arthrochalasis Type 52
Ehlers-Danlos Syndrome Arthrochalasic Type 68
Ehlers-Danlos Syndrome Arthrochalasia Type 68
Ehlers-Danlos Syndrome Type Viib 23
Ehlers-Danlos Syndrome Type Viia 23
Eds Vii Mutant Procollagen Type 68
Ehlers-Danlos Syndrome Type 7b 52
Ehlers-Danlos Syndrome Type 7 52
Eds Vii 52
Edsviib 23
Eds7b 68

Characteristics:

Orphanet epidemiological data:

52
ehlers-danlos syndrome, arthrochalasia type:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal
eds viia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal
eds viib:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
ehlers-danlos syndrome, type viib:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 130060
ICD10 via Orphanet29 Q79.6
MeSH37 D004535

Summaries for Ehlers-Danlos Syndrome, Type Viib

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OMIM:50 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 eds viib, is related to ehlers-danlos syndrome, classic type and ehlers-danlos syndrome, type vii, 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 Chain), and among its related pathways are Amoebiasis and Protein digestion and absorption. Affiliated tissues include skin and bone, and related mouse phenotypes are normal and muscle.

NIH Rare Diseases:46 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:68 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
Ehlers-Danlos Syndrome, Type V Type I Ehlers-Danlos Syndrome
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 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 27)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, classic type29.7COL1A1, COL1A2
2ehlers-danlos syndrome, type vii11.1
3ehlers-danlos syndrome10.7
4ehlers-danlos syndrome, type vi10.1
5ehlers-danlos syndrome, type iv10.1
6ehlers-danlos syndrome, type viic10.1
7ehlers-danlos syndrome, type iii10.1
8infundibulo-neurohypophysitis9.8COL1A1, COL1A2
9contractures-webbed neck-micrognathia-hypoplastic nipples syndrome9.7COL1A1, COL1A2
10pex7-related refsum disease9.7COL1A1, COL1A2
11elliptocytosis 39.7COL1A1, COL1A2
12deafness, autosomal recessive 919.7COL1A1, COL1A2
13mental retardation, autosomal recessive 359.7COL1A1, COL1A2
14ehlers-danlos syndrome, cardiac valvular form9.7COL1A1, COL1A2
15osteogenesis imperfecta, type ii9.7COL1A1, COL1A2
16osteogenesis imperfecta, type iii9.7COL1A1, COL1A2
17ceroid lipofuscinosis, neuronal, 119.6COL1A1, COL1A2
18descending colon cancer9.6COL1A1, COL1A2
19diabetic foot ulcers9.6COL1A1, COL1A2
20carnitine palmitoyltransferase ii deficiency9.6COL1A1, COL1A2
21hodgkin's lymphoma, lymphocytic-histiocytic predominance9.5COL1A1, COL1A2
22ischemic bone disease9.5COL1A1, COL1A2
23vulvovaginal candidiasis9.4COL1A1, COL1A2
24tinea profunda9.4COL1A1, COL1A2
25fetishism9.3COL1A1, COL1A2
26osteogenesis imperfecta, type iv9.2ALB, COL1A1, COL1A2
27sclerosteosis9.1COL1A1, COL1A2

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:

 52 (show all 11)
  • thin skin
  • hyperextensible skin
  • atrophic scars
  • muscle weakness
  • short stature
  • joint hyperflexibility
  • osteoporosis
  • subcutaneous hemorrhage
  • gastroesophageal reflux
  • excessive wrinkled skin
  • hernia

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

(show all 36)
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 malar flattening HP:0000272
20 osteopenia HP:0000938
21 hyperextensible skin HP:0000974
22 soft skin HP:0000977
23 bruising susceptibility HP:0000978
24 poor wound healing HP:0001058
25 atrophic scars HP:0001075
26 muscular hypotonia HP:0001252
27 joint laxity HP:0001388
28 breech presentation HP:0001623
29 delayed gross motor development HP:0002194
30 scoliosis HP:0002650
31 increased susceptibility to fractures HP:0002659
32 kyphosis HP:0002808
33 premature osteoarthritis HP:0003088
34 mild short stature HP:0003502
35 congenital bilateral hip dislocation HP:0008780
36 midface retrusion 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 7a25
2 Ehlers-Danlos Syndrome, Type 7b25
3 Ehlers-Danlos Syndrome Type Viia23 COL1A1
4 Ehlers-Danlos Syndrome Type Viib23 COL1A2

Anatomical Context for Ehlers-Danlos Syndrome, Type Viib

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.5ALB, COL1A1, COL1A2
2MP:00053698.2ALB, COL1A1, COL1A2

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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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:00055849.6COL1A1, COL1A2
2collagen trimerGO:00055819.6COL1A1, COL1A2
3extracellular matrixGO:00310129.3COL1A1, COL1A2
4endoplasmic reticulum lumenGO:00057889.2COL1A1, COL1A2
5extracellular spaceGO:00056158.5ALB, COL1A1, COL1A2
6extracellular regionGO:00055768.2ALB, COL1A1, COL1A2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.5COL1A1, COL1A2
2protein heterotrimerizationGO:00702089.5COL1A1, COL1A2
3response to nutrientGO:00075849.5ALB, COL1A1
4collagen catabolic processGO:00305749.4COL1A1, COL1A2
5regulation of immune responseGO:00507769.4COL1A1, COL1A2
6platelet activationGO:00301689.3COL1A1, COL1A2
7blood vessel developmentGO:00015689.3COL1A1, COL1A2
8collagen fibril organizationGO:00301999.2COL1A1, COL1A2
9skeletal system developmentGO:00015019.2COL1A1, COL1A2
10extracellular matrix organizationGO:00301989.2COL1A1, COL1A2
11cellular response to amino acid stimulusGO:00712309.1COL1A1, COL1A2
12blood coagulationGO:00075969.0COL1A1, COL1A2
13leukocyte migrationGO:00509008.7COL1A1, 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:00484079.4COL1A1, COL1A2
2extracellular matrix structural constituentGO:00052019.4COL1A1, COL1A2
3identical protein bindingGO:00428028.5ALB, COL1A1, COL1A2

Sources for Ehlers-Danlos Syndrome, Type Viib

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet