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

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

Name: Ehlers-Danlos Syndrome, Type Viib 54
Eds Viib 24 56 66 69
Ehlers-Danlos Syndrome, Arthrochalasia Type 50 56 69
Eds Viia 24 56 66
Arthrochalasis Multiplex Congenita 50 66
Ehlers-Danlos Syndrome, Type Viia 54 13
Ehlers-Danlos Syndrome 7a 66 29
Ehlers-Danlos Syndrome 7b 66 29
Ehlers-Danlos Syndrome, Type Vii, Autosomal Dominant 54
Ehlers-Danlos Syndrome Type Vii Autosomal Dominant 66
Ehlers-Danlos Syndrome, Arthrochalasis Type 56
Ehlers-Danlos Syndrome Arthrochalasia Type 66
Ehlers-Danlos Syndrome Arthrochalasic Type 66
Arthrochalasia Ehlers-Danlos Syndrome 50
Ehlers-Danlos Syndrome Type Viia 24
Ehlers-Danlos Syndrome Type Viib 24
Eds Vii Mutant Procollagen Type 66
Ehlers-Danlos Syndrome Type 7a 56
Ehlers-Danlos Syndrome Type 7b 56
Ehlers-Danlos Syndrome Type 7 56
Arthrochalasia Eds 50
Eds Vii 56
Edsviib 24
Eds7a 66
Eds7b 66
Aeds 50

Characteristics:

Orphanet epidemiological data:

56
ehlers-danlos syndrome, arthrochalasis 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;

HPO:

32
ehlers-danlos syndrome, type viib:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 130060
ICD10 via Orphanet 34 Q79.6
MeSH 42 D004535

Summaries for Ehlers-Danlos Syndrome, Type Viib

OMIM : 54 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 muscle weakness, short stature and gastroesophageal reflux. An important gene associated with Ehlers-Danlos Syndrome, Type Viib is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Vesicle-mediated transport and ECM-receptor interaction. Affiliated tissues include skin and bone, and related phenotype is muscle.

NIH Rare Diseases : 50 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 : 66 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

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)
id Related Disease Score Top Affiliating Genes
1 factor xiiia deficiency 31.5 COL1A1 COL1A2
2 herpes simplex 30.6 COL1A1 COL1A2
3 hepatitis a 12.0
4 hemophilia a 12.0
5 hypervitaminosis a 12.0
6 molybdenum cofactor deficiency a 12.0
7 xeroderma pigmentosum, group a 12.0
8 fanconi anemia, complementation group a 11.9
9 niemann-pick disease, type a 11.9
10 medium-chain acyl-coenzyme a dehydrogenase deficiency 11.9
11 charcot-marie-tooth disease, recessive intermediate, a 11.9
12 cockayne syndrome, type a 11.9
13 charcot-marie-tooth disease, dominant intermediate a 11.9
14 insulin-resistant acanthosis nigricans, type a 11.8
15 methylmalonyl-coenzyme a mutase deficiency 11.8
16 non-a-e hepatitis 11.8
17 hypercarotenemia and vitamin a deficiency, autosomal dominant 11.8
18 immunoglobulin a deficiency 2 11.8
19 unilateral absence of a pulmonary artery 11.8
20 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 11.8
21 acquired hemophilia a 11.8
22 hyperphenylalaninemia, bh4-deficient, a 11.8
23 muscular dystrophy-dystroglycanopathy , type a, 10 11.8
24 apolipoprotein a-ii deficiency 11.8
25 muscular dystrophy-dystroglycanopathy , type a, 12 11.8
26 streptococcal group a invasive disease 11.8
27 muscular dystrophy-dystroglycanopathy , type a, 1 11.7
28 muscular dystrophy-dystroglycanopathy , type a, 13 11.7
29 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 11.7
30 muscular dystrophy-dystroglycanopathy , type a, 7 11.7
31 muscular dystrophy-dystroglycanopathy , type a, 2 11.7
32 muscular dystrophy-dystroglycanopathy , type a, 5 11.7
33 muscular dystrophy-dystroglycanopathy , type a, 9 11.7
34 muscular dystrophy-dystroglycanopathy , type a, 3 11.7
35 muscular dystrophy-dystroglycanopathy , type a, 6 11.7
36 muscular dystrophy-dystroglycanopathy , type a, 14 11.7
37 muscular dystrophy-dystroglycanopathy , type a, 4 11.7
38 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency 11.7
39 pseudoarylsulfatase a deficiency 11.7
40 severe hemophilia a 11.7
41 hereditary hypercarotenemia and vitamin a deficiency 11.7
42 angelman syndrome due to a point mutation 11.7
43 koolen-de vries syndrome due to a point mutation 11.7
44 mild hemophilia a 11.6
45 3-hydroxyacyl-coenzyme a dehydrogenase deficiency 11.6
46 moderately severe hemophilia a 11.6
47 immunoglobulin a vasculitis 11.6
48 apo a-i deficiency 11.6
49 thymoma type a 11.6
50 phospholipase a2, group iv a, deficiency of 11.6

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

Symptoms by clinical synopsis from OMIM:

130060

Clinical features from OMIM:

130060

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

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0001324
2 short stature 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0004322
3 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
4 osteoporosis 56 32 Occasional (29-5%) HP:0000939
5 hernia 56 32 Frequent (79-30%) HP:0100790
6 joint hyperflexibility 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0005692
7 thin skin 56 32 Very frequent (99-80%) HP:0000963
8 subcutaneous hemorrhage 56 32 Frequent (79-30%) HP:0001933
9 hyperextensible skin 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000974
10 excessive wrinkled skin 56 32 Frequent (79-30%) HP:0007392
11 atrophic scars 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0001075
12 joint laxity 32 HP:0001388
13 malar flattening 32 HP:0000272
14 osteopenia 32 HP:0000938
15 muscular hypotonia 32 HP:0001252
16 scoliosis 32 HP:0002650
17 kyphosis 32 HP:0002808
18 bruising susceptibility 32 HP:0000978
19 midface retrusion 32 HP:0011800
20 delayed gross motor development 32 HP:0002194
21 increased susceptibility to fractures 32 HP:0002659
22 poor wound healing 32 HP:0001058
23 mild short stature 32 HP:0003502
24 soft skin 32 HP:0000977
25 breech presentation 32 HP:0001623
26 premature osteoarthritis 32 HP:0003088
27 congenital bilateral hip dislocation 32 HP:0008780

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 ALB COL1A1 COL1A2

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Type Viib

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

Genetic Tests for Ehlers-Danlos Syndrome, Type Viib

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

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 7a 29
2 Ehlers-Danlos Syndrome, Type 7b 29
3 Ehlers-Danlos Syndrome Type Viia 24 COL1A1
4 Ehlers-Danlos Syndrome Type Viib 24 COL1A2

Anatomical Context for Ehlers-Danlos Syndrome, Type Viib

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

39
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Type Viib

Articles related to Ehlers-Danlos Syndrome, Type Viib:

id Title Authors Year
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

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

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 COL1A2, EX6DEL deletion Pathogenic
2 COL1A2 NM_000089.3(COL1A2): c.279+2T> C single nucleotide variant Pathogenic rs72656357 GRCh37 Chromosome 7, 94030934: 94030934
3 COL1A2 COL1A2, IVS6DS, G-A, -1 single nucleotide variant Pathogenic
4 COL1A2 COL1A2, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
5 COL1A2 NM_000089.3(COL1A2): c.226-1G> C single nucleotide variant Pathogenic rs66820119 GRCh37 Chromosome 7, 94030878: 94030878
6 COL1A2 NM_000089.3(COL1A2): c.226-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs72656355 GRCh37 Chromosome 7, 94030877: 94030877
7 COL1A1 NG_007400.1: g.8207G> A single nucleotide variant Pathogenic rs72667022 GRCh37 Chromosome 17, 48275794: 48275794
8 COL1A1 COL1A1, IVS5AS, G-A, -1 single nucleotide variant Pathogenic
9 COL1A1 COL1A1, IVS5AS, A-T, -2 single nucleotide variant Pathogenic
10 ALB NM_000477.5(ALB): c.71G> A (p.Arg24Gln) single nucleotide variant Pathogenic rs74821926 GRCh37 Chromosome 4, 74270115: 74270115
11 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866

Expression for Ehlers-Danlos Syndrome, Type Viib

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Type Viib.

Pathways for Ehlers-Danlos Syndrome, Type Viib

GO Terms for Ehlers-Danlos Syndrome, Type Viib

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 ALB COL1A1 COL1A2
2 endoplasmic reticulum GO:0005783 9.43 ALB COL1A1 COL1A2
3 collagen trimer GO:0005581 9.16 COL1A1 COL1A2
4 endoplasmic reticulum lumen GO:0005788 9.13 ALB COL1A1 COL1A2
5 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.51 COL1A1 COL1A2
2 extracellular matrix organization GO:0030198 9.49 COL1A1 COL1A2
3 regulation of immune response GO:0050776 9.48 COL1A1 COL1A2
4 blood coagulation GO:0007596 9.46 COL1A1 COL1A2
5 skeletal system development GO:0001501 9.43 COL1A1 COL1A2
6 platelet activation GO:0030168 9.4 COL1A1 COL1A2
7 collagen catabolic process GO:0030574 9.37 COL1A1 COL1A2
8 cellular response to amino acid stimulus GO:0071230 9.32 COL1A1 COL1A2
9 blood vessel development GO:0001568 9.26 COL1A1 COL1A2
10 collagen fibril organization GO:0030199 9.16 COL1A1 COL1A2
11 protein heterotrimerization GO:0070208 8.96 COL1A1 COL1A2
12 skin morphogenesis GO:0043589 8.62 COL1A1 COL1A2

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.33 ALB COL1A1 COL1A2
2 protease binding GO:0002020 9.26 COL1A1 COL1A2
3 extracellular matrix structural constituent GO:0005201 8.96 COL1A1 COL1A2
4 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2

Sources for Ehlers-Danlos Syndrome, Type Viib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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