MCID: HGH023
MIFTS: 31

High Bone Mass Osteogenesis Imperfecta malady

Bone diseases, Fetal diseases categories

Summaries for High Bone Mass Osteogenesis Imperfecta

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32MalaCards
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MalaCards: High Bone Mass Osteogenesis Imperfecta, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta type i and osteogenesis imperfecta type iii. An important gene associated with High Bone Mass Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Development Angiotensin activation of ERK and Development Endothelin-1/EDNRA signaling. The drugs calcitonin and salmon calcitonin and the compounds Collagenase and nppa have been mentioned in the context of this disorder. Affiliated tissues include bone.

Aliases & Classifications for High Bone Mass Osteogenesis Imperfecta

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Sources:
60UMLS, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
high bone mass osteogenesis imperfecta:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

high bone mass osteogenesis imperfecta 48
osteogenesis imperfecta 60
high bone mass oi 48


External Ids:

ICD10 via Orphanet26 Q78.0

Related Diseases for High Bone Mass Osteogenesis Imperfecta

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to High Bone Mass Osteogenesis Imperfecta via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta type i31.8COL1A1, COL1A2
2osteogenesis imperfecta type iii31.4COL1A2, COL1A1
3dentinogenesis imperfecta31.2COL1A2, COL1A1
4osteogenesis imperfecta, type ii30.8COL1A1, COL1A2
5osteogenesis imperfecta type 430.8COL1A2, COL1A1
6ehlers-danlos syndrome30.8COL1A2, COL1A1
7osteoporosis30.8COL1A2, COL1A1
8col1a1/2-related osteogenesis imperfecta30.6COL1A1, COL1A2
9osteogenesis imperfecta30.5COL1A2, COL1A1
10otosclerosis30.3COL1A1, COL1A2
11connective tissue disease30.1COL1A2, COL1A1
12osteogenesis imperfecta type 610.7
13bone fracture10.6
14osteogenesis imperfecta type 510.6
15osteogenesis imperfecta type 910.6
16osteogenesis imperfecta type 810.5
17osteogenesis imperfecta type xiii10.5
18osteogenesis imperfecta type 710.5
19osteogenesis imperfecta type 2a10.5
20osteogenesis imperfecta type xi10.5
21osteogenesis imperfecta type xii10.5
22collagen disease10.4
23osteogenesis imperfecta levin type10.4
24osteogenesis imperfecta type 1a10.4
25osteogenesis imperfecta type x10.4
26osteogenesis imperfecta, type xiv10.4
27osteogenesis imperfecta type 2b10.4
28osteogenesis imperfecta, type xv10.4
29congenital osteogenesis imperfecta - microcephaly - cataracts10.4
30reflex sympathetic dystrophy10.3
31osteonecrosis10.3
32type i ehlers-danlos syndrome10.3
33cerebritis10.3
34spondylolysis10.3
35hypophosphatasia10.3
36breast cancer10.3
37dentinogenesis imperfecta 110.3
38osteoporosis-pseudoglioma syndrome10.3
39crtap-related osteogenesis imperfecta10.3
40ehlers-danlos/osteogenesis imperfecta syndrome10.3
41spondylolisthesis10.2
42thanatophoric dysplasia10.2
43fibrous dysplasia10.2
44n syndrome10.2
45idiopathic juvenile osteoporosis10.2
46aortic aneurysm10.2
47hydrocephalus10.2
48al gazali sabrinathan nair syndrome10.2
49cole carpenter syndrome10.2
50osteogenesis imperfecta congenita microcephaly and cataracts10.2

Graphical network of the top 20 diseases related to High Bone Mass Osteogenesis Imperfecta:



Diseases related to high bone mass osteogenesis imperfecta

Clinical Features for High Bone Mass Osteogenesis Imperfecta

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Drugs & Therapeutics for High Bone Mass Osteogenesis Imperfecta

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for High Bone Mass Osteogenesis Imperfecta

Drug clinical trials:

Search ClinicalTrials for High Bone Mass Osteogenesis Imperfecta

Search NIH Clinical Center for High Bone Mass Osteogenesis Imperfecta

Search CenterWatch for High Bone Mass Osteogenesis Imperfecta

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for High Bone Mass Osteogenesis Imperfecta

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Anatomical Context for High Bone Mass Osteogenesis Imperfecta

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Sources:
32MalaCards
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MalaCards organs/tissues related to High Bone Mass Osteogenesis Imperfecta:

32
Bone

Animal Models for High Bone Mass Osteogenesis Imperfecta or affiliated genes

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Publications for High Bone Mass Osteogenesis Imperfecta

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Genetic Variations for High Bone Mass Osteogenesis Imperfecta

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Expression for genes affiliated with High Bone Mass Osteogenesis Imperfecta

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with High Bone Mass Osteogenesis Imperfecta

Search GEO for disease gene expression data for High Bone Mass Osteogenesis Imperfecta.

Pathways for genes affiliated with High Bone Mass Osteogenesis Imperfecta

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Sources:
12EMD Millipore, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 49PharmGKB
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Pathways related to High Bone Mass Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1COL1A1, COL1A2
2
Development Endothelin-1/EDNRA signaling
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9.1COL1A2, COL1A1
3
Cell adhesion Integrin-mediated cell adhesion and migration
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9.1COL1A1, COL1A2
49.1COL1A2, COL1A1
5
Cell adhesion ECM remodeling
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9.1COL1A1, COL1A2
6
Hide members
9.1COL1A1, COL1A2
7
Hide members
9.1COL1A1, COL1A2
8
Hide members
9.1COL1A1, COL1A2
9
Hide members
9.1COL1A1, COL1A2
109.1COL1A1, COL1A2
11
Hide members
9.1COL1A2, COL1A1
129.1COL1A1, COL1A2
139.1COL1A2, COL1A1
149.1COL1A1, COL1A2
159.1COL1A1, COL1A2
169.1COL1A2, COL1A1
179.1COL1A1, COL1A2
189.1COL1A1, COL1A2
199.1COL1A2, COL1A1
20
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.1COL1A1, COL1A2
21
Hide members
9.1COL1A1, COL1A2
229.1COL1A1, COL1A2
239.1COL1A2, COL1A1
24
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
Hide members
9.1COL1A1, COL1A2
259.1COL1A1, COL1A2

Compounds for genes affiliated with High Bone Mass Osteogenesis Imperfecta

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Sources:
11DrugBank, 44Novoseek, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 24HMDB, 2BitterDB
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Compounds related to High Bone Mass Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1Collagenase119.4COL1A1, COL1A2
2nppa449.4COL1A1, COL1A2
3carbodiimide449.4COL1A1, COL1A2
4nppb44 59 2811.4COL1A2, COL1A1
5xbai449.4COL1A1, COL1A2
6ecori449.4COL1A1, COL1A2
7rsai449.3COL1A1, COL1A2
8mspi449.3COL1A2, COL1A1
9procollagen449.3COL1A1, COL1A2
10simvastatin44 49 59 28 11 2414.2COL1A1, COL1A2
11chloramphenicol44 2 1111.2COL1A1, COL1A2
12ribonucleic acid449.1COL1A2, COL1A1
13aspartate449.1COL1A1, COL1A2
14vitamin d449.0COL1A1, COL1A2
15thymidine44 249.8COL1A1, COL1A2

GO Terms for genes affiliated with High Bone Mass Osteogenesis Imperfecta

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Sources:
16Gene Ontology
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Cellular components related to High Bone Mass Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.1COL1A1, COL1A2
2collagen type IGO:0055849.0COL1A1, COL1A2
3extracellular matrixGO:0310128.8COL1A1, COL1A2

Biological processes related to High Bone Mass Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.4COL1A1, COL1A2
2protein heterotrimerizationGO:0702089.4COL1A1, COL1A2
3cellular response to amino acid stimulusGO:0712309.4COL1A1, COL1A2
4collagen fibril organizationGO:0301999.3COL1A2, COL1A1
5blood vessel developmentGO:0015689.3COL1A1, COL1A2
6collagen catabolic processGO:0305749.3COL1A1, COL1A2
7extracellular matrix disassemblyGO:0226179.2COL1A2, COL1A1
8leukocyte migrationGO:0509009.2COL1A1, COL1A2
9skeletal system developmentGO:0015019.1COL1A1, COL1A2
10blood coagulationGO:0075969.1COL1A1, COL1A2
11platelet activationGO:0301689.0COL1A2, COL1A1
12extracellular matrix organizationGO:0301988.8COL1A1, COL1A2

Molecular functions related to High Bone Mass Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.1COL1A1, COL1A2
2platelet-derived growth factor bindingGO:0484079.0COL1A1, COL1A2
3extracellular matrix structural constituentGO:0052018.8COL1A1, COL1A2

Products for genes affiliated with High Bone Mass Osteogenesis Imperfecta

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for High Bone Mass Osteogenesis Imperfecta

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet