MCID: ART153
MIFTS: 44

Arthrochalasia Ehlers-Danlos Syndrome

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

Aliases & Classifications for Arthrochalasia Ehlers-Danlos Syndrome

MalaCards integrated aliases for Arthrochalasia Ehlers-Danlos Syndrome:

Name: Arthrochalasia Ehlers-Danlos Syndrome 54 60
Ehlers-Danlos Syndrome, Arthrochalasia Type 54 60 74
Arthrochalasis Multiplex Congenita 54 60
Aeds 54 60
Ehlers-Danlos Syndrome Arthrochalasia Type 38
Ehlers-Danlos Syndrome Type 7 60
Arthrochalasia Eds 54
Eds Vii 60

Characteristics:

Orphanet epidemiological data:

60
arthrochalasia ehlers-danlos syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Arthrochalasia Ehlers-Danlos Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Arthrochalasia Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome, arthrochalasia type, is related to osteoporosis and scleroderma, familial progressive. An important gene associated with Arthrochalasia Ehlers-Danlos Syndrome is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. Affiliated tissues include breast, brain and bone, and related phenotypes are muscular hypotonia and dysphasia

Related Diseases for Arthrochalasia Ehlers-Danlos Syndrome

Diseases in the Arthrochalasia Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

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

(show top 50) (show all 14992)
# Related Disease Score Top Affiliating Genes
1 osteoporosis 30.9 COL1A1 COL1A2
2 scleroderma, familial progressive 30.9 COL1A1 COL1A2
3 ehlers-danlos syndrome 30.9 COL1A1 COL1A2
4 brittle bone disorder 30.7 COL1A1 COL1A2
5 dentinogenesis imperfecta 30.6 COL1A1 COL1A2
6 osteogenesis imperfecta, type v 30.6 COL1A1 COL1A2
7 osteogenesis imperfecta, type viii 30.5 COL1A1 COL1A2
8 scoliosis 30.5 COL1A1 COL1A2
9 osteogenesis imperfecta, type iv 30.5 COL1A1 COL1A2
10 otosclerosis 30.5 COL1A1 COL1A2
11 connective tissue disease 30.4 COL1A1 COL1A2
12 osteogenesis imperfecta, type i 30.4 COL1A1 COL1A2
13 caffey disease 30.4 COL1A1 COL1A2
14 collagen disease 30.4 COL1A1 COL1A2
15 osteogenesis imperfecta, type iii 30.3 COL1A1 COL1A2
16 osteogenesis imperfecta, type ii 30.3 COL1A1 COL1A2
17 osteogenesis imperfecta, type vii 30.3 COL1A1 COL1A2
18 spondyloepiphyseal dysplasia congenita 30.2 COL1A1 COL1A2
19 ehlers-danlos syndrome, classic type, 1 30.2 COL1A1 COL1A2
20 classic ehlers-danlos syndrome 30.2 COL1A1 COL1A2
21 bruck syndrome 30.0 COL1A1 COL1A2
22 bone development disease 29.1 COL1A1 COL1A2
23 high bone mass osteogenesis imperfecta 28.1 COL1A1 COL1A2
24 larsen-like syndrome 27.8 COL1A1 COL1A2
25 immunoglobulin a deficiency 1 12.4
26 hepatitis a 12.4
27 hemophilia a 12.4
28 hypervitaminosis a 12.4
29 molybdenum cofactor deficiency, complementation group a 12.3
30 charcot-marie-tooth disease, recessive intermediate a 12.3
31 fanconi anemia, complementation group a 12.3
32 xeroderma pigmentosum, complementation group a 12.3
33 niemann-pick disease, type a 12.3
34 mandibuloacral dysplasia with type a lipodystrophy 12.3
35 hypercarotenemia and vitamin a deficiency, autosomal dominant 12.3
36 insulin-resistant acanthosis nigricans, type a 12.3
37 krabbe disease, atypical, due to saposin a deficiency 12.3
38 hyperphenylalaninemia, bh4-deficient, a 12.2
39 muscular dystrophy-dystroglycanopathy , type a, 8 12.2
40 medium-chain acyl-coenzyme a dehydrogenase deficiency 12.2
41 muscular dystrophy-dystroglycanopathy , type a, 10 12.2
42 muscular dystrophy-dystroglycanopathy , type a, 12 12.2
43 cockayne syndrome a 12.2
44 charcot-marie-tooth disease, dominant intermediate a 12.2
45 glaucoma 3, primary congenital, a 12.2
46 streptococcal group a invasive disease 12.2
47 muscular dystrophy-dystroglycanopathy , type a, 13 12.2
48 muscular dystrophy-dystroglycanopathy , type a, 1 12.2
49 mannosidosis, beta a, lysosomal 12.2
50 glaucoma 1, open angle, a 12.2

Graphical network of the top 20 diseases related to Arthrochalasia Ehlers-Danlos Syndrome:



Diseases related to Arthrochalasia Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Arthrochalasia Ehlers-Danlos Syndrome

Human phenotypes related to Arthrochalasia Ehlers-Danlos Syndrome:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 dysphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002357
3 hip dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001385
4 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
5 coxa valga 60 33 hallmark (90%) Very frequent (99-80%) HP:0002673
6 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
7 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
8 aphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002381
9 hip dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002827
10 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
11 coxa vara 60 33 hallmark (90%) Very frequent (99-80%) HP:0002812
12 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
13 avascular necrosis of the capital femoral epiphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005743
14 scarring 60 33 hallmark (90%) Very frequent (99-80%) HP:0100699
15 muscle flaccidity 60 33 hallmark (90%) Very frequent (99-80%) HP:0010547
16 echolalia 60 33 hallmark (90%) Very frequent (99-80%) HP:0010529
17 mutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002300
18 abnormality of subcutaneous fat tissue 60 33 hallmark (90%) Very frequent (99-80%) HP:0001001
19 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
20 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
21 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
22 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
23 retrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000278
24 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
25 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
26 femoral hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100541
27 joint dislocation 60 Very frequent (99-80%)

Drugs & Therapeutics for Arthrochalasia Ehlers-Danlos Syndrome

Search Clinical Trials , NIH Clinical Center for Arthrochalasia Ehlers-Danlos Syndrome

Genetic Tests for Arthrochalasia Ehlers-Danlos Syndrome

Anatomical Context for Arthrochalasia Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Arthrochalasia Ehlers-Danlos Syndrome:

42
Breast, Brain, Bone, Skin, Heart, Kidney, Lung

Publications for Arthrochalasia Ehlers-Danlos Syndrome

Variations for Arthrochalasia Ehlers-Danlos Syndrome

Expression for Arthrochalasia Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Arthrochalasia Ehlers-Danlos Syndrome.

Pathways for Arthrochalasia Ehlers-Danlos Syndrome

Pathways related to Arthrochalasia Ehlers-Danlos Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512
3 Relaxin signaling pathway hsa04926

Pathways related to Arthrochalasia Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 COL1A1 COL1A2
2
Show member pathways
12.28 COL1A1 COL1A2
3
Show member pathways
12.2 COL1A1 COL1A2
4
Show member pathways
12.13 COL1A1 COL1A2
5
Show member pathways
12.08 COL1A1 COL1A2
6
Show member pathways
11.7 COL1A1 COL1A2
7
Show member pathways
11.68 COL1A1 COL1A2
8 11.59 COL1A1 COL1A2
9
Show member pathways
11.49 COL1A1 COL1A2
10 11.46 COL1A1 COL1A2
11 11.42 COL1A1 COL1A2
12 11.2 COL1A1 COL1A2
13 11.15 COL1A1 COL1A2
14 11.03 COL1A1 COL1A2
15 10.86 COL1A1 COL1A2
16 10.75 COL1A1 COL1A2
17 10.47 COL1A1 COL1A2
18 10.47 COL1A1 COL1A2
19 9.98 COL1A1 COL1A2

GO Terms for Arthrochalasia Ehlers-Danlos Syndrome

Cellular components related to Arthrochalasia Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.32 COL1A1 COL1A2
2 endoplasmic reticulum lumen GO:0005788 9.26 COL1A1 COL1A2
3 collagen-containing extracellular matrix GO:0062023 9.16 COL1A1 COL1A2
4 collagen trimer GO:0005581 8.96 COL1A1 COL1A2
5 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

Biological processes related to Arthrochalasia Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

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

Molecular functions related to Arthrochalasia Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.26 COL1A1 COL1A2
2 protease binding GO:0002020 9.16 COL1A1 COL1A2
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A1 COL1A2
4 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2

Sources for Arthrochalasia Ehlers-Danlos Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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