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

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Aliases & Classifications for High Bone Mass Osteogenesis Imperfecta

MalaCards integrated aliases for High Bone Mass Osteogenesis Imperfecta:

Name: High Bone Mass Osteogenesis Imperfecta ⁵⁵

High Bone Mass Oi ⁵⁵

Characteristics:

Orphanet epidemiological data:

⁵⁵

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

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Osteogenesis imperfecta

Orphanet: ⁵⁵

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁵ ORPHA314029

ICD10 via Orphanet ³³ Q78.0

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Summaries for High Bone Mass Osteogenesis Imperfecta

MalaCards based summary : High Bone Mass Osteogenesis Imperfecta, also known as high bone mass oi, is related to brittle bone disorder and ehlers-danlos/osteogenesis imperfecta syndrome. An important gene associated with High Bone Mass Osteogenesis Imperfecta is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Collagen chain trimerization. Affiliated tissues include bone.

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Related Diseases for High Bone Mass Osteogenesis Imperfecta

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

(show all 25)

#	Related Disease	Score	Top Affiliating Genes
1	brittle bone disorder	29.7	COL1A1 COL1A2
2	ehlers-danlos/osteogenesis imperfecta syndrome	9.9	COL1A1 COL1A2
3	ehlers-danlos syndrome, arthrochalasia type, 1	9.9	COL1A1 COL1A2
4	larsen-like syndrome	9.9	COL1A1 COL1A2
5	osteogenesis imperfecta, type viii	9.8	COL1A1 COL1A2
6	osteogenesis imperfecta, type vii	9.8	COL1A1 COL1A2
7	osteogenesis imperfecta, type vi	9.8	COL1A1 COL1A2
8	scleroderma, familial progressive	9.8	COL1A1 COL1A2
9	ehlers-danlos syndrome, classic type, 1	9.8	COL1A1 COL1A2
10	caffey disease	9.8	COL1A1 COL1A2
11	osteogenesis imperfecta, type v	9.8	COL1A1 COL1A2
12	osteogenesis imperfecta, type iv	9.8	COL1A1 COL1A2
13	dentinogenesis imperfecta	9.8	COL1A1 COL1A2
14	bruck syndrome	9.8	COL1A1 COL1A2
15	spondyloepiphyseal dysplasia congenita	9.8	COL1A1 COL1A2
16	osteogenesis imperfecta, type ii	9.8	COL1A1 COL1A2
17	osteogenesis imperfecta, type i	9.8	COL1A1 COL1A2
18	osteogenesis imperfecta, type iii	9.7	COL1A1 COL1A2
19	bone development disease	9.7	COL1A1 COL1A2
20	collagen disease	9.7	COL1A1 COL1A2
21	otosclerosis	9.7	COL1A1 COL1A2
22	ehlers-danlos syndrome	9.6	COL1A1 COL1A2
23	scoliosis	9.6	COL1A1 COL1A2
24	connective tissue disease	9.5	COL1A1 COL1A2
25	osteoporosis	9.4	COL1A1 COL1A2

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

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Symptoms & Phenotypes for High Bone Mass Osteogenesis Imperfecta

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Drugs & Therapeutics for High Bone Mass Osteogenesis Imperfecta

Search Clinical Trials , NIH Clinical Center for High Bone Mass Osteogenesis Imperfecta

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Genetic Tests for High Bone Mass Osteogenesis Imperfecta

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Anatomical Context for High Bone Mass Osteogenesis Imperfecta

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

³⁸

Bone

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Publications for High Bone Mass Osteogenesis Imperfecta

Articles related to High Bone Mass Osteogenesis Imperfecta:

#	Title	Authors	Year
1	A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. ( 28916840 )	Rolvien T....Oheim R.	2017
2	COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. ( 21344539 )	Lindahl K....Marini J.C.	2011

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Genes for High Bone Mass Osteogenesis Imperfecta

Genes related to High Bone Mass Osteogenesis Imperfecta (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	368.37	Causative germline mutation ⁵⁵ GeneCards inferred via : Publications (show sections)
2	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	368.02	Causative germline mutation ⁵⁵ GeneCards inferred via : Publications (show sections)

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Variations for High Bone Mass Osteogenesis Imperfecta

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Expression for High Bone Mass Osteogenesis Imperfecta

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

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Pathways for High Bone Mass Osteogenesis Imperfecta

Pathways related to High Bone Mass Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 20)

#	Super pathways	Score	Top Affiliating Genes
1	Development Angiotensin activation of ERK ²¹ Show member pathways Cell adhesion Integrin inside-out signaling ²¹ Development ACM2 and ACM4 activation of ERK ²¹ Development Angiotensin signaling via PYK2 ²¹ Development EDNRB signaling ²¹ Development EPO-induced MAPK pathway ²¹ Development G-Proteins mediated regulation MARK-ERK signaling ²¹ Signal transduction IP3 signaling ²¹	12.34	COL1A1 COL1A2
2	Collagen chain trimerization ⁶² Show member pathways Anchoring fibril formation ⁶² Assembly of collagen fibrils and other multimeric structures ⁶² Blood Coagulation Cascade ⁶⁰ Collagen biosynthesis and modifying enzymes ⁶² Collagen formation ⁶² Crosslinking of collagen fibrils ⁶² Intrinsic Prothrombin Activation Pathway ⁶⁰ Protein digestion and absorption ³⁶	12.31	COL1A1 COL1A2
3	Degradation of the extracellular matrix ⁶² Show member pathways Collagen degradation ⁶² Extracellular matrix organization ⁶²	12.21	COL1A1 COL1A2
4	Development Endothelin-1/EDNRA signaling ²¹ Show member pathways Cytoskeleton remodeling FAK signaling ²¹ Development Endothelin-1/EDNRA transactivation of EGFR ²¹ GnRH signaling pathway ³⁶ Inflammatory mediator regulation of TRP channels ³⁶	12.13	COL1A1 COL1A2
5	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²¹ Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²¹ Cell adhesion Tight junctions ²¹ Cytoskeleton remodeling Integrin outside-in signaling ²¹ Development MAG-dependent inhibition of neurite outgrowth ²¹	12.09	COL1A1 COL1A2
6	Relaxin signaling pathway ³⁶ Show member pathways Endocrine resistance ³⁶ Estrogen signaling pathway ³⁶ Relaxin receptors ⁶²	12.05	COL1A1 COL1A2
7	ECM-receptor interaction ³⁶ Show member pathways Integrin cell surface interactions ⁶²	11.69	COL1A1 COL1A2
8	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²¹ Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²¹	11.67	COL1A1 COL1A2
9	Platelet activation ³⁶	11.58	COL1A1 COL1A2
10	Binding and Uptake of Ligands by Scavenger Receptors ⁶² Show member pathways Scavenging by Class A Receptors ⁶² Scavenging by Class B Receptors ⁶² Scavenging by Class F Receptors ⁶² Scavenging by Class H Receptors ⁶² Scavenging of heme from plasma ⁶²	11.49	COL1A1 COL1A2
11	AGE-RAGE signaling pathway in diabetic complications ³⁶	11.45	COL1A1 COL1A2
12	Amoebiasis ³⁶	11.42	COL1A1 COL1A2
13	IL4-mediated signaling events ¹	11.2	COL1A1 COL1A2
14	Cell adhesion_ECM remodeling ²¹	11.15	COL1A1 COL1A2
15	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁵⁷	11.03	COL1A1 COL1A2
16	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms ²¹	10.86	COL1A1 COL1A2
17	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²¹	10.75	COL1A1 COL1A2
18	G-protein signaling_Rap2B regulation pathway ²¹	10.49	COL1A1 COL1A2
19	Inflammatory Response Pathway ¹	10.47	COL1A1 COL1A2
20	VEGFR3 signaling in lymphatic endothelium ¹	9.98	COL1A1 COL1A2

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GO Terms for High Bone Mass Osteogenesis Imperfecta

Cellular components related to High Bone Mass Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix	GO:0031012	9.32	COL1A1 COL1A2
2	proteinaceous extracellular matrix	GO:0005578	9.26	COL1A1 COL1A2
3	endoplasmic reticulum lumen	GO:0005788	9.16	COL1A1 COL1A2
4	collagen trimer	GO:0005581	8.96	COL1A1 COL1A2
5	collagen type I trimer	GO:0005584	8.62	COL1A1 COL1A2

Biological processes related to High Bone Mass Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	leukocyte migration	GO:0050900	9.51	COL1A1 COL1A2
2	extracellular matrix organization	GO:0030198	9.49	COL1A1 COL1A2
3	regulation of immune response	GO:0050776	9.48	COL1A1 COL1A2
4	blood coagulation	GO:0007596	9.46	COL1A1 COL1A2
5	skeletal system development	GO:0001501	9.43	COL1A1 COL1A2
6	platelet activation	GO:0030168	9.4	COL1A1 COL1A2
7	collagen catabolic process	GO:0030574	9.37	COL1A1 COL1A2
8	cellular response to amino acid stimulus	GO:0071230	9.32	COL1A1 COL1A2
9	blood vessel development	GO:0001568	9.26	COL1A1 COL1A2
10	collagen fibril organization	GO:0030199	9.16	COL1A1 COL1A2
11	protein heterotrimerization	GO:0070208	8.96	COL1A1 COL1A2
12	skin morphogenesis	GO:0043589	8.62	COL1A1 COL1A2

Molecular functions related to High Bone Mass Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

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

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