MCID: HGH023
MIFTS: 26

High Bone Mass Osteogenesis Imperfecta malady

Bone diseases, Fetal diseases, Rare diseases categories

Summaries for High Bone Mass Osteogenesis Imperfecta

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Looking for an antibody for researching high bone mass osteogenesis imperfecta?

COL1A2 antibody
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MalaCards based summary: High Bone Mass Osteogenesis Imperfecta, also known as high bone mass oi, is related to osteogenesis imperfecta and col1a1/2-related osteogenesis imperfecta. An important gene associated with High Bone Mass Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Development Endothelin 1 EDNRA signaling and Development Angiotensin activation of ERK. The compounds nppa and carbodiimide have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotype limbs/digits/tail.

Aliases & Classifications for High Bone Mass Osteogenesis Imperfecta

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Sources:
48Orphanet, 27ICD10 via Orphanet
See all sources

High Bone Mass Osteogenesis Imperfecta, Aliases & Descriptions:

Name: High Bone Mass Osteogenesis Imperfecta 48
 
High Bone Mass Oi 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet27 Q78.0

Related Diseases for High Bone Mass Osteogenesis Imperfecta

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



Diseases related to high bone mass osteogenesis imperfecta

Symptoms for High Bone Mass Osteogenesis Imperfecta

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Drugs & Therapeutics for High Bone Mass Osteogenesis Imperfecta

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Drug clinical trials:

Search ClinicalTrials for High Bone Mass Osteogenesis Imperfecta

Search NIH Clinical Center for High Bone Mass Osteogenesis Imperfecta

Genetic Tests for High Bone Mass Osteogenesis Imperfecta

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Anatomical Context for High Bone Mass Osteogenesis Imperfecta

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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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MGI Mouse Phenotypes related to High Bone Mass Osteogenesis Imperfecta:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL1A2, COL1A1

Publications for High Bone Mass Osteogenesis Imperfecta

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Articles related to High Bone Mass Osteogenesis Imperfecta:

idTitleAuthorsYear
1
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. (21344539)
2011

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

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling FAK signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
9.1COL1A2, COL1A1
2
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
9.1COL1A1, COL1A2
3
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
9.1COL1A1, COL1A2
4
Show member pathways
9.1COL1A2, COL1A1
5
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.1COL1A2, COL1A1
6
Show member pathways
9.1COL1A2, COL1A1
7
Show member pathways
9.1COL1A1, COL1A2
89.1COL1A1, COL1A2
9
Show member pathways
9.1COL1A1, COL1A2
109.1COL1A1, COL1A2
119.1COL1A1, COL1A2
129.1COL1A2, COL1A1
139.1COL1A2, COL1A1
149.1COL1A1, COL1A2
15
Show member pathways
9.1COL1A2, COL1A1
16
Show member pathways
9.1COL1A2, COL1A1
179.1COL1A2, COL1A1
189.1COL1A1, COL1A2
19
Show member pathways
9.1COL1A1, COL1A2

Compounds for genes affiliated with High Bone Mass Osteogenesis Imperfecta

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

(show all 15)
idCompoundScoreTop Affiliating Genes
1nppa449.4COL1A2, COL1A1
2carbodiimide449.4COL1A2, COL1A1
3nppb29 44 6011.4COL1A2, COL1A1
4xbai449.4COL1A1, COL1A2
5ecori449.4COL1A2, COL1A1
6rsai449.4COL1A2, COL1A1
7mspi449.3COL1A2, COL1A1
8procollagen449.3COL1A1, COL1A2
9simvastatin44 50 60 29 25 1214.3COL1A2, COL1A1
10chloramphenicol44 3 50 1212.2COL1A2, COL1A1
11ribonucleic acid449.2COL1A2, COL1A1
12vitamin d449.1COL1A1, COL1A2
13oligonucleotide449.1COL1A2, COL1A1
14thymidine44 2510.0COL1A2, COL1A1
15aspartate448.8COL1A2, COL1A1

GO Terms for genes affiliated with High Bone Mass Osteogenesis Imperfecta

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Cellular components related to High Bone Mass Osteogenesis Imperfecta according to GeneCards/GeneDecks:

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

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.4COL1A2, COL1A1
2protein heterotrimerizationGO:0702089.4COL1A2, COL1A1
3collagen fibril organizationGO:0301999.4COL1A1, COL1A2
4blood vessel developmentGO:0015689.3COL1A1, COL1A2
5cellular response to amino acid stimulusGO:0712309.3COL1A2, COL1A1
6collagen catabolic processGO:0305749.3COL1A2, COL1A1
7extracellular matrix disassemblyGO:0226179.2COL1A1, COL1A2
8leukocyte migrationGO:0509009.2COL1A2, COL1A1
9skeletal system developmentGO:0015019.1COL1A2, COL1A1
10blood coagulationGO:0075969.1COL1A2, COL1A1
11platelet activationGO:0301689.0COL1A1, COL1A2
12extracellular matrix organizationGO:0301988.8COL1A2, COL1A1

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

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

Products for genes affiliated with High Bone Mass Osteogenesis Imperfecta

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Sources for High Bone Mass Osteogenesis Imperfecta

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet