MCID: HGH023
MIFTS: 30

High Bone Mass Osteogenesis Imperfecta malady

Bone diseases, Fetal diseases, Rare diseases categories
Download this MalaCard

Summaries for High Bone Mass Osteogenesis Imperfecta

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: High Bone Mass Osteogenesis Imperfecta, also known as osteogenesis imperfecta, 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 drugs calcitonin and salmon calcitonin and 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

About this section
Sources:
49Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
high bone mass osteogenesis imperfecta:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

high bone mass osteogenesis imperfecta 49
osteogenesis imperfecta 62
high bone mass oi 49


External Ids:

ICD10 via Orphanet26 Q78.0

Related Diseases for High Bone Mass Osteogenesis Imperfecta

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for High Bone Mass Osteogenesis Imperfecta

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for High Bone Mass Osteogenesis Imperfecta

Search NIH Clinical Center for High Bone Mass Osteogenesis Imperfecta

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for High Bone Mass Osteogenesis Imperfecta

About this section

Anatomical Context for High Bone Mass Osteogenesis Imperfecta

About this section
Sources:
33MalaCards
See all sources

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

33
Bone

Animal Models for High Bone Mass Osteogenesis Imperfecta or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to High Bone Mass Osteogenesis Imperfecta:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL1A2, COL1A1

Publications for High Bone Mass Osteogenesis Imperfecta

About this section
Sources:
52PubMed
See all sources

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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for High Bone Mass Osteogenesis Imperfecta:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524

Expression for genes affiliated with High Bone Mass Osteogenesis Imperfecta

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 60Thomson Reuters, 30KEGG, 55Reactome, 53QIAGEN, 38NCBI BioSystems Database, 51PharmGKB, 12EMD Millipore
See all sources

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 signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
9.1COL1A2, COL1A1
2
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1COL1A1, COL1A2
3
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.1COL1A2, COL1A1
4
Show member pathways
9.1COL1A1, COL1A2
5
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.1COL1A2, COL1A1
6
Show member pathways
9.1COL1A2, COL1A1
7
Show member pathways
9.1COL1A2, COL1A1
89.1COL1A2, COL1A1
9
Show member pathways
9.1COL1A2, COL1A1
109.1COL1A1, COL1A2
119.1COL1A2, COL1A1
129.1COL1A2, COL1A1
139.1COL1A2, COL1A1
149.1COL1A1, COL1A2
15
Show member pathways
9.1COL1A2, COL1A1
16
Show member pathways
9.1COL1A2, COL1A1
179.1COL1A1, COL1A2
189.1COL1A2, COL1A1
19
Show member pathways
9.1COL1A2, COL1A1

Compounds for genes affiliated with High Bone Mass Osteogenesis Imperfecta

About this section
Sources:
45Novoseek, 29IUPHAR, 61Tocris Bioscience, 51PharmGKB, 24HMDB, 11DrugBank, 3BitterDB
See all sources

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

(show all 15)
idCompoundScoreTop Affiliating Genes
1nppa459.4COL1A2, COL1A1
2carbodiimide459.4COL1A2, COL1A1
3nppb29 45 6111.4COL1A2, COL1A1
4xbai459.4COL1A1, COL1A2
5ecori459.4COL1A2, COL1A1
6rsai459.4COL1A2, COL1A1
7mspi459.3COL1A2, COL1A1
8procollagen459.3COL1A1, COL1A2
9simvastatin45 51 61 29 24 1114.3COL1A2, COL1A1
10chloramphenicol45 3 51 1112.2COL1A2, COL1A1
11ribonucleic acid459.2COL1A2, COL1A1
12vitamin d459.1COL1A1, COL1A2
13oligonucleotide459.1COL1A2, COL1A1
14thymidine45 2410.0COL1A2, COL1A1
15aspartate458.8COL1A2, COL1A1

GO Terms for genes affiliated with High Bone Mass Osteogenesis Imperfecta

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for High Bone Mass Osteogenesis Imperfecta

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet