EDS7A
MCID: EHL032
MIFTS: 49

Ehlers-Danlos Syndrome, Type Viib (EDS7A) 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 7a 70 27
Ehlers-Danlos Syndrome 7b 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 Arthrochalasic Type 70
Ehlers-Danlos Syndrome Arthrochalasia Type 70
 
Arthrochalasia Ehlers-Danlos Syndrome 48
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
Arthrochalasia Eds 48
Eds Vii 54
Edsviib 24
Eds7b 70
Eds7a 70
Aeds 48

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 factor xiiia deficiency and herpes simplex, and has symptoms including Array, Array and Array. 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 AGE-RAGE signaling pathway in diabetic complications. Affiliated tissues include skin and bone, and related mouse phenotype muscle.

NIH Rare Diseases:48 Arthrochalasia ehlers-danlos syndrome (aeds) 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: 4/21/2017

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 top 50)    (show all 481)
idRelated DiseaseScoreTop Affiliating Genes
1factor xiiia deficiency31.5COL1A1, COL1A2
2herpes simplex30.6COL1A1, COL1A2
3hepatitis a12.0
4hemophilia a12.0
5hypervitaminosis a12.0
6molybdenum cofactor deficiency a12.0
7xeroderma pigmentosum, group a12.0
8fanconi anemia, complementation group a11.9
9niemann-pick disease, type a11.9
10medium-chain acyl-coenzyme a dehydrogenase deficiency11.9
11charcot-marie-tooth disease, recessive intermediate, a11.9
12cockayne syndrome, type a11.9
13charcot-marie-tooth disease, dominant intermediate a11.9
14insulin-resistant acanthosis nigricans, type a11.8
15methylmalonyl-coenzyme a mutase deficiency11.8
16non-a-e hepatitis11.8
17hypercarotenemia and vitamin a deficiency, autosomal dominant11.8
18immunoglobulin a deficiency 211.8
19unilateral absence of a pulmonary artery11.8
20muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1111.8
21acquired hemophilia a11.8
22hyperphenylalaninemia, bh4-deficient, a11.8
23muscular dystrophy-dystroglycanopathy , type a, 1011.8
24apolipoprotein a-ii deficiency11.8
25muscular dystrophy-dystroglycanopathy , type a, 1211.8
26streptococcal group a invasive disease11.8
27muscular dystrophy-dystroglycanopathy , type a, 111.7
28muscular dystrophy-dystroglycanopathy , type a, 1311.7
29muscular dystrophy-dystroglycanopathy , type a, 311.7
30muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 811.7
31muscular dystrophy-dystroglycanopathy , type a, 911.7
32muscular dystrophy-dystroglycanopathy , type a, 711.7
33muscular dystrophy-dystroglycanopathy , type a, 211.7
34muscular dystrophy-dystroglycanopathy , type a, 511.7
35muscular dystrophy-dystroglycanopathy , type a, 611.7
36muscular dystrophy-dystroglycanopathy , type a, 1411.7
37muscular dystrophy-dystroglycanopathy , type a, 411.7
383-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency11.7
39pseudoarylsulfatase a deficiency11.7
40severe hemophilia a11.7
41hereditary hypercarotenemia and vitamin a deficiency11.7
42koolen-de vries syndrome due to a point mutation11.7
43angelman syndrome due to a point mutation11.7
44mild hemophilia a11.6
453-hydroxyacyl-coenzyme a dehydrogenase deficiency11.6
46moderately severe hemophilia a11.6
47immunoglobulin a vasculitis11.6
48apo a-i deficiency11.6
49thymoma type a11.6
50congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1011.6

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:

 54 64 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin64 54 Very frequent (99-80%) HP:0000963
2 hyperextensible skin64 54 Very frequent (99-80%) HP:0000974
3 atrophic scars64 54 Very frequent (99-80%) HP:0001075
4 muscle weakness64 54 Very frequent (99-80%) HP:0001324
5 short stature64 54 Very frequent (99-80%) HP:0004322
6 joint hyperflexibility64 54 Very frequent (99-80%) HP:0005692
7 osteoporosis64 54 Occasional (29-5%) HP:0000939
8 subcutaneous hemorrhage64 54 Frequent (79-30%) HP:0001933
9 gastroesophageal reflux64 54 Frequent (79-30%) HP:0002020
10 excessive wrinkled skin64 54 Frequent (79-30%) HP:0007392
11 hernia64 54 Frequent (79-30%) HP:0100790
12 malar flattening64 HP:0000272
13 osteopenia64 HP:0000938
14 soft skin64 HP:0000977
15 bruising susceptibility64 HP:0000978
16 poor wound healing64 HP:0001058
17 muscular hypotonia64 HP:0001252
18 joint laxity64 HP:0001388
19 breech presentation64 HP:0001623
20 delayed gross motor development64 HP:0002194
21 scoliosis64 HP:0002650
22 increased susceptibility to fractures64 HP:0002659
23 kyphosis64 HP:0002808
24 premature osteoarthritis64 HP:0003088
25 mild short stature64 HP:0003502
26 congenital bilateral hip dislocation64 HP:0008780
27 midface retrusion64 HP:0011800

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5ALB, 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 reticulumGO:00057839.2ALB, COL1A1, COL1A2
4endoplasmic reticulum lumenGO:00057889.2ALB, COL1A1, COL1A2
5extracellular spaceGO:00056158.5ALB, COL1A1, COL1A2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.7COL1A1, COL1A2
2blood vessel developmentGO:00015689.7COL1A1, COL1A2
3cellular response to amino acid stimulusGO:00712309.7COL1A1, COL1A2
4collagen catabolic processGO:00305749.7COL1A1, COL1A2
5collagen fibril organizationGO:00301999.7COL1A1, COL1A2
6extracellular matrix organizationGO:00301989.7COL1A1, COL1A2
7leukocyte migrationGO:00509009.7COL1A1, COL1A2
8platelet activationGO:00301689.7COL1A1, COL1A2
9protein heterotrimerizationGO:00702089.7COL1A1, COL1A2
10regulation of immune responseGO:00507769.6COL1A1, COL1A2
11skeletal system developmentGO:00015019.3COL1A1, COL1A2
12skin 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:00484079.5COL1A1, COL1A2
3identical protein bindingGO:00428029.0ALB, COL1A1, COL1A2
4protease bindingGO:00020209.0COL1A1, 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