MCID: EHL036
MIFTS: 19

Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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

Aliases & Classifications for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

MalaCards integrated aliases for Ehlers-Danlos/osteogenesis Imperfecta Syndrome:

Name: Ehlers-Danlos/osteogenesis Imperfecta Syndrome 58
Eds/oi Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
ehlers-danlos/osteogenesis imperfecta syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q79.6
Orphanet 58 ORPHA230857

Summaries for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

MalaCards based summary : Ehlers-Danlos/osteogenesis Imperfecta Syndrome, also known as eds/oi syndrome, is related to col1a1/2 osteogenesis imperfecta and high bone mass osteogenesis imperfecta. An important gene associated with Ehlers-Danlos/osteogenesis Imperfecta Syndrome is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Collagen chain trimerization. Affiliated tissues include bone.

Related Diseases for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 col1a1/2 osteogenesis imperfecta 9.9 COL1A2 COL1A1
2 high bone mass osteogenesis imperfecta 9.9 COL1A2 COL1A1
3 arthrochalasia ehlers-danlos syndrome 9.9 COL1A2 COL1A1
4 ehlers-danlos syndrome 9.9 COL1A2 COL1A1
5 larsen-like syndrome 9.9 COL1A2 COL1A1
6 fibrogenesis imperfecta ossium 9.9 COL1A2 COL1A1
7 ehlers-danlos syndrome, arthrochalasia type, 2 9.9 COL1A2 COL1A1
8 scleroderma, familial progressive 9.9 COL1A2 COL1A1
9 diffuse scleroderma 9.9 COL1A2 COL1A1
10 syndromic x-linked intellectual disability cabezas type 9.9 COL1A2 COL1A1
11 osteogenesis imperfecta, type v 9.9 COL1A2 COL1A1
12 ehlers-danlos syndrome, cardiac valvular type 9.9 COL1A2 COL1A1
13 osteogenesis imperfecta, type vii 9.9 COL1A2 COL1A1
14 classic ehlers-danlos syndrome 9.9 COL1A2 COL1A1
15 x-linked alport syndrome 9.8 COL1A2 COL1A1
16 alport syndrome 9.8 COL1A2 COL1A1
17 bruck syndrome 9.8 COL1A2 COL1A1
18 caffey disease 9.8 COL1A2 COL1A1
19 osteoporosis, juvenile 9.8 COL1A2 COL1A1
20 spinal stenosis 9.8 COL1A2 COL1A1
21 osteogenesis imperfecta, type i 9.8 COL1A2 COL1A1
22 oral submucous fibrosis 9.8 COL1A2 COL1A1
23 collagen disease 9.8 COL1A2 COL1A1
24 pelvic organ prolapse 9.8 COL1A2 COL1A1
25 osteogenesis imperfecta, type ii 9.8 COL1A2 COL1A1
26 bone structure disease 9.8 COL1A2 COL1A1
27 osteogenesis imperfecta, type iv 9.8 COL1A2 COL1A1
28 ehlers-danlos syndrome, classic type, 1 9.8 COL1A2 COL1A1
29 dentinogenesis imperfecta 9.8 COL1A2 COL1A1
30 osteogenesis imperfecta, type iii 9.8 COL1A2 COL1A1
31 bone development disease 9.8 COL1A2 COL1A1
32 endosteal hyperostosis, autosomal dominant 9.8 COL1A2 COL1A1
33 hyperostosis 9.8 COL1A2 COL1A1
34 bone resorption disease 9.8 COL1A2 COL1A1
35 bone remodeling disease 9.8 COL1A2 COL1A1
36 otosclerosis 9.8 COL1A2 COL1A1
37 stickler syndrome 9.7 COL1A2 COL1A1
38 phenylketonuria 9.7 COL1A2 COL1A1
39 marfan syndrome 9.7 COL1A2 COL1A1
40 brittle bone disorder 9.7 COL1A2 COL1A1
41 osteochondrodysplasia 9.7 COL1A2 COL1A1
42 pulmonary fibrosis, idiopathic 9.6 COL1A2 COL1A1
43 scoliosis 9.6 COL1A2 COL1A1
44 connective tissue disease 9.5 COL1A2 COL1A1

Graphical network of the top 20 diseases related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome:



Diseases related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Symptoms & Phenotypes for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Drugs & Therapeutics for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Genetic Tests for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Anatomical Context for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

MalaCards organs/tissues related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome:

40
Bone

Publications for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Variations for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Expression for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Search GEO for disease gene expression data for Ehlers-Danlos/osteogenesis Imperfecta Syndrome.

Pathways for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Pathways related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 COL1A2 COL1A1
2
Show member pathways
12.31 COL1A2 COL1A1
3
Show member pathways
12.22 COL1A2 COL1A1
4
Show member pathways
12.1 COL1A2 COL1A1
5 11.85 COL1A2 COL1A1
6
Show member pathways
11.8 COL1A2 COL1A1
7
Show member pathways
11.72 COL1A2 COL1A1
8 11.59 COL1A2 COL1A1
9
Show member pathways
11.49 COL1A2 COL1A1
10 11.47 COL1A2 COL1A1
11 11.43 COL1A2 COL1A1
12 11.2 COL1A2 COL1A1
13 11.15 COL1A2 COL1A1
14 11.03 COL1A2 COL1A1
15 10.86 COL1A2 COL1A1
16 10.75 COL1A2 COL1A1
17 10.47 COL1A2 COL1A1
18 9.98 COL1A2 COL1A1

GO Terms for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Cellular components related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome according to GeneCards Suite gene sharing:

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

Biological processes related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome according to GeneCards Suite gene sharing:

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

Molecular functions related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome according to GeneCards Suite gene sharing:

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

Sources for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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