High Bone Mass Osteogenesis Imperfecta disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for High Bone Mass Osteogenesis Imperfecta

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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

Sources:
⁴⁸Orphanet, ²⁷ICD10 via Orphanet
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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

ICD10: ²⁷

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Osteogenesis imperfecta

Orphanet: ⁴⁸

Rare bone diseases

Developmental anomalies during embryogenesis

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

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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

(show all 15)

id	Related Disease	Score	Top Affiliating Genes
1	osteogenesis imperfecta	30.5	COL1A2, COL1A1
2	col1a1/2-related osteogenesis imperfecta	10.0	COL1A2, COL1A1
3	osteogenesis imperfecta, type ii	10.0	COL1A2, COL1A1
4	osteogenesis imperfecta type iii	10.0	COL1A2, COL1A1
5	osteogenesis imperfecta type i	10.0	COL1A1, COL1A2
6	osteogenesis imperfecta type 4	10.0	COL1A1, COL1A2
7	ehlers-danlos syndrome classical type	10.0	COL1A1, COL1A2
8	otosclerosis	10.0	COL1A1, COL1A2
9	dentinogenesis imperfecta	10.0	COL1A1, COL1A2
10	ehlers-danlos syndrome	9.9	COL1A2, COL1A1
11	connective tissue disease	9.9	COL1A2, COL1A1
12	pulmonary fibrosis	9.9	COL1A2, COL1A1
13	osteoarthritis	9.9	COL1A2, COL1A1
14	systemic scleroderma	9.8	COL1A1, COL1A2
15	osteoporosis	9.8	COL1A1, COL1A2

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

Symptoms for High Bone Mass Osteogenesis Imperfecta

Drugs & Therapeutics for High Bone Mass Osteogenesis Imperfecta

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
See all sources

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

Anatomical Context for High Bone Mass Osteogenesis Imperfecta

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

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to High Bone Mass Osteogenesis Imperfecta:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail phenotype	MP:0005371	9.1	COL1A2, COL1A1

Publications for High Bone Mass Osteogenesis Imperfecta

Sources:
⁵¹PubMed
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Articles related to High Bone Mass Osteogenesis Imperfecta:

id	Title	Authors	Year
1	COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. (21344539)	Lindahl K.... Marini J.C.	2011

Genes related to High Bone Mass Osteogenesis Imperfecta

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁸Orphanet
See all sources

Genes related to High Bone Mass Osteogenesis Imperfecta:

- Elite gene

id	Symbol	Products	Description	Score	Implication
1	COL1A2		collagen, type I, alpha 2	25.76	Causative germline mutation ⁴⁸ GeneCards inferred via : Publications (show sections)
2	COL1A1		collagen, type I, alpha 1	15.76	Causative germline mutation ⁴⁸ GeneCards inferred via : Publications (show sections)

Products for genes related to High Bone Mass Osteogenesis Imperfecta disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	2	-	2	2
2	Novus Biologicals	2	1	2	-

Variations for High Bone Mass Osteogenesis Imperfecta

Expression for genes affiliated with High Bone Mass Osteogenesis Imperfecta

Sources:
²BioGPS, ¹⁶Gene 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

Sources:
⁴⁹PathCards, ⁵⁹Thomson Reuters, ³⁰KEGG, ⁵⁴Reactome, ⁵²QIAGEN, ³⁷NCBI BioSystems Database, ⁵⁰PharmGKB, ¹³EMD Millipore
See all sources

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

(show all 19)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Development Endothelin 1 EDNRA signaling⁵⁹ Show member pathways Inflammatory mediator regulation of TRP channels³⁰ Estrogen signaling pathway³⁰ GnRH signaling pathway³⁰ Cytoskeleton remodeling FAK signaling⁵⁹ Development Endothelin 1 EDNRA transactivation of EGFR⁵⁹	9.1	COL1A2, COL1A1
2	Development Angiotensin activation of ERK⁵⁹ 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	9.1	COL1A1, COL1A2
3	Cell adhesion Integrin mediated cell adhesion and migration⁵⁹ 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	9.1	COL1A1, COL1A2
4	Degradation of the extracellular matrix⁵⁴ Show member pathways Collagen degradation⁵⁴ Extracellular matrix organization⁵⁴	9.1	COL1A2, COL1A1
5	Focal adhesion³⁰ Show member pathways HGF Pathway⁵² Integrin-mediated cell adhesion³⁷ Focal Adhesion³⁷ ECM-receptor interaction³⁰	9.1	COL1A2, COL1A1
6	Integrin Pathway⁵² Show member pathways Inhibition of Angiogenesis by TSP1⁵² Transendothelial Migration of Leukocytes⁵² FAK1 Signaling⁵² GnRH Signaling⁵² UPA-UPAR Pathway⁵²	9.1	COL1A2, COL1A1
7	Phospholipase-C Pathway⁵² Show member pathways PTEN Pathway⁵²	9.1	COL1A1, COL1A2
8	PI3K-Akt signaling pathway³⁰	9.1	COL1A1, COL1A2
9	Collagen biosynthesis and modifying enzymes⁵⁴ Show member pathways Anchoring fibril formation⁵⁴ Blood Coagulation Cascade⁵² Collagen formation⁵⁴ Crosslinking of collagen fibrils⁵⁴ Intrinsic Prothrombin Activation Pathway⁵² Assembly of collagen fibrils and other multimeric structures⁵⁴	9.1	COL1A1, COL1A2
10	Amoebiasis³⁰	9.1	COL1A1, COL1A2
11	Cell adhesion Endothelial cell contacts by non junctional mechanisms⁵⁹	9.1	COL1A1, COL1A2
12	Development Hedgehog and PTH signaling pathways in bone and cartilage development⁵⁹	9.1	COL1A2, COL1A1
13	Inflammatory Response Pathway³⁷	9.1	COL1A2, COL1A1
14	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics⁵⁰	9.1	COL1A1, COL1A2
15	Binding and Uptake of Ligands by Scavenger Receptors⁵⁴ Show member pathways Scavenging by Class B Receptors⁵⁴ Scavenging of Heme from Plasma⁵⁴ Scavenging by Class H Receptors⁵⁴ Scavenging by Class A Receptors⁵⁴ Scavenging by Class F Receptors⁵⁴	9.1	COL1A2, COL1A1
16	Cell adhesion ECM remodeling⁵⁹ Show member pathways Metalloproteases in connective tissue degradation¹³	9.1	COL1A2, COL1A1
17	Protein digestion and absorption³⁰	9.1	COL1A2, COL1A1
18	IL4-mediated signaling events³⁷	9.1	COL1A1, COL1A2
19	VEGFR3 signaling in lymphatic endothelium³⁷ Show member pathways Fibronectin matrix formation⁵⁴	9.1	COL1A1, COL1A2

Compounds for genes affiliated with High Bone Mass Osteogenesis Imperfecta

Sources:
⁴⁴Novoseek, ²⁹IUPHAR, ⁶⁰Tocris Bioscience, ⁵⁰PharmGKB, ²⁵HMDB, ¹²DrugBank, ³BitterDB
See all sources

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

(show all 15)

id	Compound	Score	Top Affiliating Genes
1	nppa⁴⁴	9.4	COL1A2, COL1A1
2	carbodiimide⁴⁴	9.4	COL1A2, COL1A1
3	nppb²⁹ ⁴⁴ ⁶⁰	11.4	COL1A2, COL1A1
4	xbai⁴⁴	9.4	COL1A1, COL1A2
5	ecori⁴⁴	9.4	COL1A2, COL1A1
6	rsai⁴⁴	9.4	COL1A2, COL1A1
7	mspi⁴⁴	9.3	COL1A2, COL1A1
8	procollagen⁴⁴	9.3	COL1A1, COL1A2
9	simvastatin⁴⁴ ⁵⁰ ⁶⁰ ²⁹ ²⁵ ¹²	14.3	COL1A2, COL1A1
10	chloramphenicol⁴⁴ ³ ⁵⁰ ¹²	12.2	COL1A2, COL1A1
11	ribonucleic acid⁴⁴	9.2	COL1A2, COL1A1
12	vitamin d⁴⁴	9.1	COL1A1, COL1A2
13	oligonucleotide⁴⁴	9.1	COL1A2, COL1A1
14	thymidine⁴⁴ ²⁵	10.0	COL1A2, COL1A1
15	aspartate⁴⁴	8.8	COL1A2, COL1A1

GO Terms for genes affiliated with High Bone Mass Osteogenesis Imperfecta

Sources:
¹⁷Gene Ontology
See all sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum lumen	GO:005788	9.1	COL1A2, COL1A1
2	collagen type I	GO:005584	9.0	COL1A2, COL1A1
3	extracellular matrix	GO:031012	8.8	COL1A2, COL1A1

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

(show all 12)

id	Name	GO ID	Score	Top Affiliating Genes
1	skin morphogenesis	GO:043589	9.4	COL1A2, COL1A1
2	protein heterotrimerization	GO:070208	9.4	COL1A2, COL1A1
3	collagen fibril organization	GO:030199	9.4	COL1A1, COL1A2
4	blood vessel development	GO:001568	9.3	COL1A1, COL1A2
5	cellular response to amino acid stimulus	GO:071230	9.3	COL1A2, COL1A1
6	collagen catabolic process	GO:030574	9.3	COL1A2, COL1A1
7	extracellular matrix disassembly	GO:022617	9.2	COL1A1, COL1A2
8	leukocyte migration	GO:050900	9.2	COL1A2, COL1A1
9	skeletal system development	GO:001501	9.1	COL1A2, COL1A1
10	blood coagulation	GO:007596	9.1	COL1A2, COL1A1
11	platelet activation	GO:030168	9.0	COL1A1, COL1A2
12	extracellular matrix organization	GO:030198	8.8	COL1A2, COL1A1

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

id	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:042802	9.1	COL1A2, COL1A1
2	platelet-derived growth factor binding	GO:048407	9.0	COL1A2, COL1A1
3	extracellular matrix structural constituent	GO:005201	8.8	COL1A2, COL1A1