MCID: EHL032
MIFTS: 47

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 52
Eds Viib 24 54 70 68
Ehlers-Danlos Syndrome, Arthrochalasia Type 48 54 68
Eds Viia 24 54 70
Arthrochalasis Multiplex Congenita 48 70
Ehlers-Danlos Syndrome, Type Viia 52 12
Ehlers-Danlos Syndrome 7b 70 27
Ehlers-Danlos Syndrome 7a 70 27
Ehlers-Danlos Syndrome, Type Vii, Autosomal Dominant 52
Ehlers-Danlos Syndrome Type Vii Autosomal Dominant 70
Ehlers-Danlos Syndrome, Arthrochalasis Type 54
Ehlers-Danlos Syndrome Arthrochalasia Type 70
 
Ehlers-Danlos Syndrome Arthrochalasic Type 70
Ehlers-Danlos Syndrome Type Viia 24
Ehlers-Danlos Syndrome Type Viib 24
Eds Vii Mutant Procollagen Type 70
Ehlers-Danlos Syndrome Type 7b 54
Ehlers-Danlos Syndrome Type 7a 54
Ehlers-Danlos Syndrome Type 7 54
Edsviib 24
Eds Vii 54
Eds7a 70
Eds7b 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
ehlers-danlos syndrome, type viib:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 130060
ICD10 via Orphanet31 Q79.6
MeSH39 D004535

Summaries for Ehlers-Danlos Syndrome, Type Viib

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OMIM:52 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 vi, 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 Chain), and among its related pathways are Amoebiasis and Protein digestion and absorption. Affiliated tissues include skin and bone, and related mouse phenotypes are muscle and normal.

NIH Rare Diseases:48 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:70 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 Ii

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

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, classic type31.0COL1A1, COL1A2
2ehlers-danlos syndrome, type vi11.0
3ehlers-danlos syndrome, type iv11.0
4ehlers-danlos syndrome, type viic11.0
5ehlers-danlos syndrome, type iii11.0
6ehlers-danlos syndrome, type vii11.0
7ehlers-danlos syndrome10.6
8infundibulo-neurohypophysitis9.7COL1A1, 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 iii9.6COL1A1, COL1A2
17ceroid lipofuscinosis, neuronal, 119.6COL1A1, COL1A2
18descending colon cancer9.6COL1A1, COL1A2
19diabetic foot ulcers9.6COL1A1, COL1A2
20hodgkin's lymphoma, lymphocytic-histiocytic predominance9.5COL1A1, COL1A2
21ischemic bone disease9.5COL1A1, COL1A2
22sclerosteosis9.5COL1A1, COL1A2
23vulvovaginal candidiasis9.4COL1A1, COL1A2
24osteogenesis imperfecta, type iv9.3ALB, COL1A1, COL1A2
25fetishism9.2COL1A1, COL1A2

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



Diseases related to ehlers-danlos syndrome, type viib

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Type Viib

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Symptoms by clinical synopsis from OMIM:

130060

Clinical features from OMIM:

130060

Human phenotypes related to Ehlers-Danlos Syndrome, Type Viib:

 64 54 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin64 54 hallmark (90%) Very frequent (99-80%) HP:0000963
2 hyperextensible skin64 54 hallmark (90%) Very frequent (99-80%) HP:0000974
3 atypical scarring of skin64 hallmark (90%) HP:0000987
4 muscular hypotonia64 hallmark (90%) HP:0001252
5 muscle weakness64 54 hallmark (90%) Very frequent (99-80%) HP:0001324
6 joint dislocation64 hallmark (90%) HP:0001373
7 limitation of joint mobility64 hallmark (90%) HP:0001376
8 joint hypermobility64 hallmark (90%) HP:0001382
9 neurological speech impairment64 hallmark (90%) HP:0002167
10 abnormality of the hip bone64 hallmark (90%) HP:0003272
11 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
12 epicanthus64 typical (50%) HP:0000286
13 hypertelorism64 typical (50%) HP:0000316
14 micrognathia64 typical (50%) HP:0000347
15 scoliosis64 typical (50%) HP:0002650
16 depressed nasal bridge64 typical (50%) HP:0005280
17 hernia of the abdominal wall64 occasional (7.5%) HP:0004299
18 reduced bone mineral density64 occasional (7.5%) HP:0004349
19 malar flattening64 HP:0000272
20 osteopenia64 HP:0000938
21 soft skin64 HP:0000977
22 bruising susceptibility64 HP:0000978
23 poor wound healing64 HP:0001058
24 atrophic scars64 54 Very frequent (99-80%) HP:0001075
25 joint laxity64 HP:0001388
26 breech presentation64 HP:0001623
27 delayed gross motor development64 HP:0002194
28 increased susceptibility to fractures64 HP:0002659
29 kyphosis64 HP:0002808
30 premature osteoarthritis64 HP:0003088
31 mild short stature64 HP:0003502
32 congenital bilateral hip dislocation64 HP:0008780
33 midface retrusion64 HP:0011800
34 joint hyperflexibility54 Very frequent (99-80%)
35 osteoporosis54 Occasional (29-5%)
36 subcutaneous hemorrhage54 Frequent (79-30%)
37 gastroesophageal reflux54 Frequent (79-30%)
38 excessive wrinkled skin54 Frequent (79-30%)
39 hernia54 Frequent (79-30%)

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Type Viib according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.2ALB, COL1A1, COL1A2
2MP:00028738.5ALB, COL1A1, COL1A2

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 7a27
2 Ehlers-Danlos Syndrome, Type 7b27
3 Ehlers-Danlos Syndrome Type Viia24 COL1A1
4 Ehlers-Danlos Syndrome Type Viib24 COL1A2

Anatomical Context for Ehlers-Danlos Syndrome, Type Viib

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

36
Skin, Bone

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)SNVPathogenicrs74821926GRCh37Chr 4, 74270115: 74270115
2COL1A1NM_000088.3(COL1A1): c.472-1G> CSNVPathogenicrs72667020GRCh37Chr 17, 48275866: 48275866

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 trimerGO:00055819.8COL1A1, COL1A2
2collagen type I trimerGO:00055849.8COL1A1, COL1A2
3endoplasmic reticulum lumenGO:00057889.8COL1A1, COL1A2
4extracellular matrixGO:00310129.8COL1A1, COL1A2
5extracellular regionGO:00055769.2ALB, COL1A1, COL1A2
6extracellular spaceGO:00056158.5ALB, COL1A1, COL1A2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1response to nutrientGO:00075849.9ALB, COL1A1
2blood coagulationGO:00075969.7COL1A1, COL1A2
3blood vessel developmentGO:00015689.7COL1A1, COL1A2
4cellular response to amino acid stimulusGO:00712309.7COL1A1, COL1A2
5collagen catabolic processGO:00305749.7COL1A1, COL1A2
6collagen fibril organizationGO:00301999.7COL1A1, COL1A2
7extracellular matrix organizationGO:00301989.7COL1A1, COL1A2
8leukocyte migrationGO:00509009.7COL1A1, COL1A2
9platelet activationGO:00301689.7COL1A1, COL1A2
10protein heterotrimerizationGO:00702089.7COL1A1, COL1A2
11regulation of immune responseGO:00507769.6COL1A1, COL1A2
12skeletal system developmentGO:00015019.3COL1A1, COL1A2
13skin morphogenesisGO:00435899.0COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.7COL1A1, COL1A2
2platelet-derived growth factor bindingGO:00484079.0COL1A1, COL1A2
3identical protein bindingGO:00428028.8ALB, COL1A1, COL1A2

Sources for Ehlers-Danlos Syndrome, Type Viib

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet