MCID: EHL032
MIFTS: 50

Ehlers-Danlos Syndrome, Type Viib

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Type Viib

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Type Viib:

Name: Ehlers-Danlos Syndrome, Type Viib 54
Eds Viib 24 56 71 69
Ehlers-Danlos Syndrome, Arthrochalasia Type 50 56 69
Eds Viia 24 56 71
Arthrochalasis Multiplex Congenita 50 71
Ehlers-Danlos Syndrome, Type Viia 54 13
Ehlers-Danlos Syndrome Type Vii Autosomal Dominant 71
Ehlers-Danlos Syndrome, Arthrochalasis Type 56
Ehlers-Danlos Syndrome Arthrochalasia Type 71
Ehlers-Danlos Syndrome Arthrochalasic Type 71
Arthrochalasia Ehlers-Danlos Syndrome 50
Ehlers-Danlos Syndrome Type Viia 24
Ehlers-Danlos Syndrome Type Viib 24
Eds Vii Mutant Procollagen Type 71
Ehlers-Danlos Syndrome, Type 7a 29
Ehlers-Danlos Syndrome, Type 7b 29
Ehlers-Danlos Syndrome Type 7a 56
Ehlers-Danlos Syndrome Type 7b 56
Ehlers-Danlos Syndrome Type 7 56
Ehlers-Danlos Syndrome 7a 71
Ehlers-Danlos Syndrome 7b 71
Arthrochalasia Eds 50
Eds Vii 56
Edsviib 24
Eds7a 71
Eds7b 71
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;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

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


Classifications:



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 joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). Beighton et al. (1998) reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, including a category of 'unspecified forms.' (130060)

MalaCards based summary : Ehlers-Danlos Syndrome, Type Viib, also known as eds viib, is related to hepatitis a and hemophilia a, and has symptoms including short stature, hernia and osteoporosis. An important gene associated with Ehlers-Danlos Syndrome, Type Viib is COL1A2 (Collagen Type I Alpha 2 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 inheritedconnective 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 : 71 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 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 500)
id Related Disease Score Top Affiliating Genes
1 hepatitis a 12.0
2 hemophilia a 12.0
3 hypervitaminosis a 12.0
4 molybdenum cofactor deficiency a 12.0
5 xeroderma pigmentosum, group a 11.9
6 fanconi anemia, complementation group a 11.9
7 niemann-pick disease, type a 11.9
8 medium-chain acyl-coenzyme a dehydrogenase deficiency 11.9
9 charcot-marie-tooth disease, recessive intermediate, a 11.9
10 cockayne syndrome, type a 11.9
11 charcot-marie-tooth disease, dominant intermediate a 11.8
12 lactate dehydrogenase a deficiency 11.8
13 insulin-resistant acanthosis nigricans, type a 11.8
14 non-a-e hepatitis 11.8
15 unilateral absence of a pulmonary artery 11.8
16 methylmalonyl-coenzyme a mutase deficiency 11.8
17 hyperphenylalaninemia, bh4-deficient, a 11.8
18 immunoglobulin a deficiency 2 11.8
19 hypercarotenemia and vitamin a deficiency, autosomal dominant 11.8
20 acquired hemophilia a 11.8
21 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 11.8
22 streptococcal group a invasive disease 11.8
23 apolipoprotein a-ii deficiency 11.7
24 muscular dystrophy-dystroglycanopathy , type a, 10 11.7
25 muscular dystrophy-dystroglycanopathy , type a, 1 11.7
26 muscular dystrophy-dystroglycanopathy , type a, 9 11.7
27 muscular dystrophy-dystroglycanopathy , type a, 12 11.7
28 muscular dystrophy-dystroglycanopathy , type a, 4 11.7
29 muscular dystrophy-dystroglycanopathy , type a, 13 11.7
30 muscular dystrophy-dystroglycanopathy , type a, 7 11.7
31 muscular dystrophy-dystroglycanopathy , type a, 3 11.7
32 muscular dystrophy-dystroglycanopathy , type a, 2 11.7
33 muscular dystrophy-dystroglycanopathy , type a, 5 11.7
34 muscular dystrophy-dystroglycanopathy , type a, 6 11.7
35 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 11.7
36 muscular dystrophy-dystroglycanopathy , type a, 14 11.7
37 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency 11.7
38 severe hemophilia a 11.7
39 hereditary hypercarotenemia and vitamin a deficiency 11.7
40 angelman syndrome due to a point mutation 11.7
41 koolen-de vries syndrome due to a point mutation 11.7
42 mild hemophilia a 11.7
43 adnexal spiradenoma/cylindroma of a sweat gland 11.7
44 3-hydroxyacyl-coenzyme a dehydrogenase deficiency 11.7
45 immunoglobulin a vasculitis 11.6
46 moderately severe hemophilia a 11.6
47 apo a-i deficiency 11.6
48 pseudoarylsulfatase a deficiency 11.6
49 x-linked acrogigantism due to a point mutation 11.6
50 thymoma type a 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 via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
kyphosis

Head And Neck- Face:
midface hypoplasia

Skeletal:
osteopenia
fractures
premature osteoarthritis
joint laxity, severe
recurrent joint subluxation

Growth- Height:
short stature, mild to moderate

Neurologic- Central Nervous System:
hypotonia
delayed gross motor development

Prenatal Manifestations- Delivery:
breech presentation

Skin Nails & Hair- Skin:
easy bruisability
poor wound healing
hyperextensible skin
atrophic scars
thin, velvety skin

Skeletal- Pelvis:
congenital bilateral hip dislocation


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 short stature 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
2 hernia 56 32 frequent (33%) Frequent (79-30%) HP:0100790
3 osteoporosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000939
4 muscle weakness 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001324
5 gastroesophageal reflux 56 32 frequent (33%) Frequent (79-30%) HP:0002020
6 thin skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000963
7 joint hyperflexibility 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005692
8 hyperextensible skin 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000974
9 atrophic scars 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001075
10 subcutaneous hemorrhage 56 32 frequent (33%) Frequent (79-30%) HP:0001933
11 excessive wrinkled skin 56 32 frequent (33%) Frequent (79-30%) HP:0007392
12 scoliosis 32 HP:0002650
13 joint laxity 32 HP:0001388
14 kyphosis 32 HP:0002808
15 breech presentation 32 HP:0001623
16 osteopenia 32 HP:0000938
17 midface retrusion 32 HP:0011800
18 muscular hypotonia 32 HP:0001252
19 poor wound healing 32 HP:0001058
20 malar flattening 32 HP:0000272
21 delayed gross motor development 32 HP:0002194
22 soft skin 32 HP:0000977
23 increased susceptibility to fractures 32 HP:0002659
24 premature osteoarthritis 32 HP:0003088
25 congenital bilateral hip dislocation 32 HP:0008780
26 bruising susceptibility 32 HP:0000978
27 mild short stature 32 HP:0003502

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 blood vessel development GO:0001568 9.32 COL1A1 COL1A2
9 cellular response to amino acid stimulus GO:0071230 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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