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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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

Sources:
⁶⁰UMLS, ⁴⁸Orphanet, ²⁶ICD10 via Orphanet
See all sources

Classifications:

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

ICD10: ²⁶

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Osteogenesis imperfecta

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

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

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

(show top 50) (show all 125)

id	Related Disease	Score	Top Affiliating Genes
1	osteogenesis imperfecta type i	31.8	COL1A1, COL1A2
2	osteogenesis imperfecta type iii	31.4	COL1A2, COL1A1
3	dentinogenesis imperfecta	31.2	COL1A2, COL1A1
4	osteogenesis imperfecta, type ii	30.8	COL1A1, COL1A2
5	osteogenesis imperfecta type 4	30.8	COL1A2, COL1A1
6	ehlers-danlos syndrome	30.8	COL1A2, COL1A1
7	osteoporosis	30.8	COL1A2, COL1A1
8	col1a1/2-related osteogenesis imperfecta	30.6	COL1A1, COL1A2
9	osteogenesis imperfecta	30.5	COL1A2, COL1A1
10	otosclerosis	30.3	COL1A1, COL1A2
11	connective tissue disease	30.1	COL1A2, COL1A1
12	osteogenesis imperfecta type 6	10.7
13	bone fracture	10.6
14	osteogenesis imperfecta type 5	10.6
15	osteogenesis imperfecta type 9	10.6
16	osteogenesis imperfecta type 8	10.5
17	osteogenesis imperfecta type xiii	10.5
18	osteogenesis imperfecta type 7	10.5
19	osteogenesis imperfecta type 2a	10.5
20	osteogenesis imperfecta type xi	10.5
21	osteogenesis imperfecta type xii	10.5
22	collagen disease	10.4
23	osteogenesis imperfecta levin type	10.4
24	osteogenesis imperfecta type 1a	10.4
25	osteogenesis imperfecta type x	10.4
26	osteogenesis imperfecta, type xiv	10.4
27	osteogenesis imperfecta type 2b	10.4
28	osteogenesis imperfecta, type xv	10.4
29	congenital osteogenesis imperfecta - microcephaly - cataracts	10.4
30	reflex sympathetic dystrophy	10.3
31	osteonecrosis	10.3
32	type i ehlers-danlos syndrome	10.3
33	cerebritis	10.3
34	spondylolysis	10.3
35	hypophosphatasia	10.3
36	breast cancer	10.3
37	dentinogenesis imperfecta 1	10.3
38	osteoporosis-pseudoglioma syndrome	10.3
39	crtap-related osteogenesis imperfecta	10.3
40	ehlers-danlos/osteogenesis imperfecta syndrome	10.3
41	spondylolisthesis	10.2
42	thanatophoric dysplasia	10.2
43	fibrous dysplasia	10.2
44	n syndrome	10.2
45	idiopathic juvenile osteoporosis	10.2
46	aortic aneurysm	10.2
47	hydrocephalus	10.2
48	al gazali sabrinathan nair syndrome	10.2
49	cole carpenter syndrome	10.2
50	osteogenesis imperfecta congenita microcephaly and cataracts	10.2

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

Clinical Features for High Bone Mass Osteogenesis Imperfecta

Drugs & Therapeutics for High Bone Mass Osteogenesis Imperfecta

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶⁰UMLS, ⁴⁰NDF-RT
See all sources

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:

calcitonin

salmon calcitonin

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

Publications for High Bone Mass Osteogenesis Imperfecta

Genes related to High Bone Mass Osteogenesis Imperfecta

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁸Orphanet
See all sources

Genes related to High Bone Mass Osteogenesis Imperfecta:

id	Symbol	Products	Description	Score	Implication
1	COL1A2		collagen, type I, alpha 2	25.75	Causative germline mutation ⁴⁸ GeneCards inferred : Publications, Disorders (show sections)
2	COL1A1		collagen, type I, alpha 1	15.75	Causative germline mutation ⁴⁸ GeneCards inferred : Publications, Disorders (show sections)

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

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	2	2	2
2	LSBio	-	-	2

Genetic Variations for High Bone Mass Osteogenesis Imperfecta

Expression for genes affiliated with High Bone Mass Osteogenesis Imperfecta

Sources:
¹BioGPS, 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

Sources:
¹²EMD Millipore, ⁵³Reactome, ⁵¹QIAGEN, ³⁷NCBI BioSystems Database, ²⁹KEGG, ⁴⁹PharmGKB
See all sources

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

(show all 25)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Development Angiotensin activation of ERK¹² Hide members Cell adhesion Integrin inside-out signaling¹²	9.1	COL1A1, COL1A2
2	Development Endothelin-1/EDNRA signaling Hide members Development Endothelin-1/EDNRA transactivation of EGFR¹²	9.1	COL1A2, COL1A1
3	Cell adhesion Integrin-mediated cell adhesion and migration Hide members Cytoskeleton remodeling Integrin outside-in signaling¹² Cell adhesion Integrin-mediated cell adhesion and migration¹²	9.1	COL1A1, COL1A2
4	Cell surface interactions at the vascular wall⁵³	9.1	COL1A2, COL1A1
5	Cell adhesion ECM remodeling Hide members Cell adhesion ECM remodeling¹² Metalloproteases in connective tissue degradation¹²	9.1	COL1A1, COL1A2
6	Collagen biosynthesis and modifying enzymes⁵³ Hide members Blood Coagulation Cascade⁵¹ Extracellular matrix organization⁵³ Intrinsic Prothrombin Activation Pathway⁵¹ Collagen formation⁵³ Assembly of collagen fibrils and other multimeric structures⁵³	9.1	COL1A1, COL1A2
7	Focal Adhesion³⁷ Hide members Focal adhesion²⁹	9.1	COL1A1, COL1A2
8	Integrin Pathway⁵¹ Hide members Inhibition of Angiogenesis by TSP1⁵¹ Transendothelial Migration of Leukocytes⁵¹ FAK1 Signaling⁵¹ GnRH Signaling⁵¹ UPA-UPAR Pathway⁵¹	9.1	COL1A1, COL1A2
9	PTEN Pathway⁵¹ Hide members Phospholipase-C Pathway⁵¹	9.1	COL1A1, COL1A2
10	PI3K-Akt signaling pathway²⁹	9.1	COL1A1, COL1A2
11	Platelet activation, signaling and aggregation⁵³ Hide members Hemostasis⁵³	9.1	COL1A2, COL1A1
12	Protein digestion and absorption²⁹	9.1	COL1A1, COL1A2
13	Binding and Uptake of Ligands by Scavenger Receptors⁵³	9.1	COL1A2, COL1A1
14	GPVI-mediated activation cascade⁵³	9.1	COL1A1, COL1A2
15	VEGFR3 signaling in lymphatic endothelium³⁷	9.1	COL1A1, COL1A2
16	Scavenging by Class A Receptors⁵³	9.1	COL1A2, COL1A1
17	Anchoring fibril formation⁵³	9.1	COL1A1, COL1A2
18	Platelet Adhesion to exposed collagen⁵³	9.1	COL1A1, COL1A2
19	Inflammatory Response Pathway³⁷	9.1	COL1A2, COL1A1
20	Development Hedgehog and PTH signaling pathways in bone and cartilage development Hide members Development Hedgehog and PTH signaling pathways in bone and cartilage development¹²	9.1	COL1A1, COL1A2
21	Degradation of the extracellular matrix⁵³ Hide members Degradation of collagen⁵³	9.1	COL1A1, COL1A2
22	IL4-mediated signaling events³⁷	9.1	COL1A1, COL1A2
23	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics⁴⁹	9.1	COL1A2, COL1A1
24	Cell adhesion Endothelial cell contacts by non-junctional mechanisms Hide members Cell adhesion Endothelial cell contacts by non-junctional mechanisms¹²	9.1	COL1A1, COL1A2
25	Crosslinking of collagen fibrils⁵³	9.1	COL1A1, COL1A2

Compounds for genes affiliated with High Bone Mass Osteogenesis Imperfecta

Sources:
¹¹DrugBank, ⁴⁴Novoseek, ⁵⁹Tocris Bioscience, ²⁸IUPHAR, ⁴⁹PharmGKB, ²⁴HMDB, ²BitterDB
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	Collagenase¹¹	9.4	COL1A2, COL1A1
2	nppa⁴⁴	9.4	COL1A1, COL1A2
3	carbodiimide⁴⁴	9.4	COL1A1, COL1A2
4	nppb⁴⁴ ⁵⁹ ²⁸	11.4	COL1A1, COL1A2
5	xbai⁴⁴	9.4	COL1A1, COL1A2
6	ecori⁴⁴	9.4	COL1A2, COL1A1
7	rsai⁴⁴	9.3	COL1A1, COL1A2
8	mspi⁴⁴	9.3	COL1A2, COL1A1
9	procollagen⁴⁴	9.3	COL1A1, COL1A2
10	simvastatin⁴⁴ ⁴⁹ ⁵⁹ ²⁸ ¹¹ ²⁴	14.2	COL1A1, COL1A2
11	chloramphenicol⁴⁴ ² ¹¹	11.2	COL1A1, COL1A2
12	ribonucleic acid⁴⁴	9.1	COL1A1, COL1A2
13	aspartate⁴⁴	9.1	COL1A1, COL1A2
14	vitamin d⁴⁴	9.0	COL1A1, COL1A2
15	thymidine⁴⁴ ²⁴	9.8	COL1A2, COL1A1

GO Terms for genes affiliated with High Bone Mass Osteogenesis Imperfecta

Sources:
¹⁶Gene 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	COL1A1, COL1A2
2	collagen type I	GO:005584	9.0	COL1A1, COL1A2
3	extracellular matrix	GO:031012	8.8	COL1A1, COL1A2

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	cellular response to amino acid stimulus	GO:071230	9.4	COL1A2, COL1A1
4	collagen fibril organization	GO:030199	9.3	COL1A2, COL1A1
5	blood vessel development	GO:001568	9.3	COL1A1, COL1A2
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	COL1A1, COL1A2
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	COL1A1, COL1A2
2	platelet-derived growth factor binding	GO:048407	9.0	COL1A1, COL1A2
3	extracellular matrix structural constituent	GO:005201	8.8	COL1A1, COL1A2

Products for genes affiliated with High Bone Mass Osteogenesis Imperfecta

Antibodies
Proteins
Lysates

Antibodies

Sources for High Bone Mass Osteogenesis Imperfecta

¹BioGPS

²BitterDB

³CDC

⁴Cell Signaling Technology

⁵CenterWatch

⁶ClinicalTrials

⁷dbSNP

⁸Disease Ontology

⁹diseasecard

¹⁰DISEASES

¹¹DrugBank

¹²EMD Millipore

¹³ExPASy

¹⁴FMA

¹⁵Gene Expression Omnibus DataSets

¹⁶Gene Ontology

¹⁷GeneCards

¹⁸GeneDecks

¹⁹GeneReviews

²⁰GeneTests

²¹Genetics Home Reference

²²GTR

²³HGMD

²⁴HMDB

²⁵ICD10

²⁶ICD10 via Orphanet

²⁷ICD9CM

²⁸IUPHAR

²⁹KEGG

³⁰LifeMap Discovery™

³¹LifeSpan BioSciences, Inc.

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PharmGKB

⁵⁰PubMed

⁵¹QIAGEN

⁵²R&D Systems

⁵³Reactome

⁵⁴SABiosciences

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸Thomson Reuters

⁵⁹Tocris Bioscience

⁶⁰UMLS

⁶¹UMLS via Orphanet

⁶²UniProtKB/Swiss-Prot

⁶³Wikipedia

MCID: HGH023 MIFTS: 31	High Bone Mass Osteogenesis Imperfecta malady Bone diseases, Fetal diseases categories
2 drugs, 2 genes, 1 tissue, 125 related diseases, clinical trials.

High Bone Mass Osteogenesis Imperfecta malady