MCID: EHL032
MIFTS: 48

Ehlers-Danlos Syndrome, Type Viib malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases, Eye 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 49
Eds Viib 22 51 67 65
Arthrochalasis Multiplex Congenita 68 45 67
Eds Viia 22 51 67
Ehlers-Danlos Syndrome, Arthrochalasia Type 45 65
Ehlers-Danlos Syndrome Arthrochalasia Type 68 67
Ehlers-Danlos Syndrome, Type Viia 49 11
Ehlers-Danlos Syndrome Type 7a 45 51
Ehlers-Danlos Syndrome 7a 67 24
Ehlers-Danlos Syndrome 7b 67 24
 
Eds7a 45 67
Ehlers-Danlos Syndrome Type Vii Autosomal Dominant 67
Ehlers-Danlos Syndrome Arthrochalasic Type 67
Ehlers-Danlos Syndrome Type Viia 22
Ehlers-Danlos Syndrome Type Viib 22
Procollagen Type Eds Vii, Mutant 68
Eds Vii Mutant Procollagen Type 67
Ehlers-Danlos Syndrome Type 7b 51
Edsviib 22
Eds7b 67

Characteristics:

Orphanet epidemiological data:

51
eds viia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal
eds viib:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

61
ehlers-danlos syndrome, type viib:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 130060
Orphanet51 99875, 99876
ICD10 via Orphanet28 Q79.6
MeSH36 D004535
UMLS65 C0268345, C1851801

Summaries for Ehlers-Danlos Syndrome, Type Viib

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OMIM:49 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, arthrochalasis type, and has symptoms including short stature, abnormality of the hip bone and neurological speech impairment. An important gene associated with Ehlers-Danlos Syndrome, Type Viib is COL1A1 (Collagen Type I Alpha 1), and among its related pathways are Amoebiasis and Protein digestion and absorption. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are muscle and normal.

NIH Rare Diseases:45 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:67 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
Type I Ehlers-Danlos Syndrome Autosomal Recessive Type Iv Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome Type 5 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 37)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, classic type30.5COL1A1, COL1A2
2ehlers-danlos syndrome, arthrochalasis type11.9
3cholangiocarcinoma10.5
4motion sickness10.5
5ehlers-danlos syndrome, type vi10.5
6ehlers-danlos syndrome, type iv10.5
7ehlers-danlos syndrome, type viic10.5
8ehlers-danlos syndrome, type iii10.5
9hepatitis c virus10.4
10hepatitis10.4
11hepatitis c10.4
12rheumatoid arthritis10.2
13arthritis10.2
14congenital trigeminal anesthesia9.9COL1A1, COL1A2
15col4a1-related disorders9.9COL1A1, COL1A2
16idiopathic linear interstitial keratitis9.9COL1A1, COL1A2
17eif4g1-related parkinson disease9.9COL1A1, COL1A2
18autosomal dominant microcephaly9.8COL1A1, COL1A2
19caffey disease9.8COL1A1, COL1A2
20ehlers-danlos syndrome, cardiac valvular form9.8COL1A1, COL1A2
21mental retardation, autosomal recessive 359.8COL1A1, COL1A2
22osteogenesis imperfecta, type ii9.8COL1A1, COL1A2
23osteogenesis imperfecta, type iii9.8COL1A1, COL1A2
24lymph node adenoid cystic carcinoma9.8COL1A1, COL1A2
25branchiootic syndrome9.8COL1A1, COL1A2
26anterior cruciate ligament tears9.8COL1A1, COL1A2
27dicrocoeliasis9.8COL1A1, COL1A2
28depressed scar9.8COL1A1, COL1A2
29darier disease9.7COL1A1, COL1A2
30bone deterioration disease9.7COL1A1, COL1A2
31sezary's disease9.7COL1A1, COL1A2
32ankylosis9.6COL1A1, COL1A2
33cerebellar angioblastoma9.6COL1A1, COL1A2
34primary eye hypotony9.6COL1A1, COL1A2
35osteogenesis imperfecta, type iv9.5ALB, COL1A1, COL1A2
36chronobiology disease9.4COL1A1, COL1A2
37chylomicron retention disease9.4ALB, COL1A1, 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:

 51 (show all 12)
  • abnormal scarring/cheloids/hypertrophic scars
  • thin skin
  • hyperelastic skin/cutaneous hyperlaxity
  • muscle weakness/flaccidity
  • hyperextensible joints/articular hyperlaxity
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • herniae
  • anomalies of skin, subcutaneous tissue and mucosae
  • rippled skin
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets

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

(show all 36)
id Description Frequency HPO Source Accession
1 short stature hallmark (90%) HP:0004322
2 abnormality of the hip bone hallmark (90%) HP:0003272
3 neurological speech impairment hallmark (90%) HP:0002167
4 joint hypermobility hallmark (90%) HP:0001382
5 limitation of joint mobility hallmark (90%) HP:0001376
6 joint dislocation hallmark (90%) HP:0001373
7 muscle weakness hallmark (90%) HP:0001324
8 muscular hypotonia hallmark (90%) HP:0001252
9 atypical scarring of skin hallmark (90%) HP:0000987
10 hyperextensible skin hallmark (90%) HP:0000974
11 thin skin hallmark (90%) HP:0000963
12 depressed nasal bridge typical (50%) HP:0005280
13 scoliosis typical (50%) HP:0002650
14 micrognathia typical (50%) HP:0000347
15 hypertelorism typical (50%) HP:0000316
16 epicanthus typical (50%) HP:0000286
17 reduced bone mineral density occasional (7.5%) HP:0004349
18 hernia of the abdominal wall occasional (7.5%) HP:0004299
19 midface retrusion HP:0011800
20 congenital bilateral hip dislocation HP:0008780
21 mild short stature HP:0003502
22 premature osteoarthritis HP:0003088
23 kyphosis HP:0002808
24 increased susceptibility to fractures HP:0002659
25 scoliosis HP:0002650
26 delayed gross motor development HP:0002194
27 breech presentation HP:0001623
28 joint laxity HP:0001388
29 muscular hypotonia HP:0001252
30 atrophic scars HP:0001075
31 poor wound healing HP:0001058
32 bruising susceptibility HP:0000978
33 soft skin HP:0000977
34 hyperextensible skin HP:0000974
35 osteopenia HP:0000938
36 malar flattening HP:0000272

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 Viia22 COL1A1
2 Ehlers-Danlos Syndrome Type Viib22 COL1A2

Anatomical Context for Ehlers-Danlos Syndrome, Type Viib

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

33
Skin, Bone, Eye

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5ALB, COL1A1, COL1A2
2MP:00028738.4ALB, COL1A1, COL1A2

Publications for Ehlers-Danlos Syndrome, Type Viib

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Articles related to Ehlers-Danlos Syndrome, Type Viib:

idTitleAuthorsYear
1
Pathology quiz case 1. Kikuchi disease. (21422320)
2011
2
Cadmium-induced hormetic effect in differentiated Caco-2 cells: ERK and p38 activation without cell proliferation stimulation. (20232314)
2010
3
Erythropoietin regulates tumour growth of human malignancies. (12807756)
2003
4
Generation of functional beta-actinin (CapZ) in an E. coli expression system. (9742448)
1998
5
Late potentials in arrhythmogenic right ventricular dysplasia. Prevalence, diagnostic and prognostic values. (8223760)
1993
6
Follow-up of sixty two cases of acute basophilic leukemia. (667277)
1978

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:00055849.0COL1A1, COL1A2
2endoplasmic reticulumGO:00057839.0ALB, COL1A1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.3COL1A1, COL1A2
2collagen catabolic processGO:00305749.1COL1A1, COL1A2
3cellular response to amino acid stimulusGO:00712309.0COL1A1, COL1A2
4extracellular matrix disassemblyGO:00226179.0COL1A1, COL1A2
5leukocyte migrationGO:00509008.9COL1A1, COL1A2
6platelet activationGO:00301688.8ALB, COL1A1, COL1A2
7skin morphogenesisGO:00435898.7COL1A1, COL1A2

Sources for Ehlers-Danlos Syndrome, Type Viib

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet