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

MalaCards based summary: High Bone Mass Osteogenesis Imperfecta, also known as high bone mass oi, is related to osteogenesis imperfecta and congenital trigeminal anesthesia. An important gene associated with High Bone Mass Osteogenesis Imperfecta is COL1A1 (Collagen Type I Alpha 1), and among its related pathways are ECM-receptor interaction and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include bone, eye and lymph node.

Related Diseases for High Bone Mass Osteogenesis Imperfecta

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
See all MalaCards sources

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

(show all 26)

id	Related Disease	Score	Top Affiliating Genes
1	osteogenesis imperfecta	10.0
2	congenital trigeminal anesthesia	9.9	COL1A1, COL1A2
3	col4a1-related disorders	9.9	COL1A1, COL1A2
4	idiopathic linear interstitial keratitis	9.9	COL1A1, COL1A2
5	eif4g1-related parkinson disease	9.9	COL1A1, COL1A2
6	osteogenesis imperfecta, type iv	9.9	COL1A1, COL1A2
7	autosomal dominant microcephaly	9.9	COL1A1, COL1A2
8	caffey disease	9.9	COL1A1, COL1A2
9	ehlers-danlos syndrome, cardiac valvular form	9.8	COL1A1, COL1A2
10	mental retardation, autosomal recessive 35	9.8	COL1A1, COL1A2
11	osteogenesis imperfecta, type ii	9.8	COL1A1, COL1A2
12	osteogenesis imperfecta, type iii	9.8	COL1A1, COL1A2
13	lymph node adenoid cystic carcinoma	9.8	COL1A1, COL1A2
14	ehlers-danlos syndrome, classic type	9.8	COL1A1, COL1A2
15	branchiootic syndrome	9.8	COL1A1, COL1A2
16	anterior cruciate ligament tears	9.8	COL1A1, COL1A2
17	dicrocoeliasis	9.8	COL1A1, COL1A2
18	depressed scar	9.7	COL1A1, COL1A2
19	darier disease	9.7	COL1A1, COL1A2
20	bone deterioration disease	9.7	COL1A1, COL1A2
21	sezary's disease	9.6	COL1A1, COL1A2
22	ankylosis	9.6	COL1A1, COL1A2
23	primary eye hypotony	9.5	COL1A1, COL1A2
24	chylomicron retention disease	9.5	COL1A1, COL1A2
25	chronobiology disease	9.4	COL1A1, COL1A2
26	cerebellar angioblastoma	9.3	COL1A1, COL1A2

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

Symptoms for High Bone Mass Osteogenesis Imperfecta

Drugs & Therapeutics for High Bone Mass Osteogenesis Imperfecta

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ¹³DrugBank, ²⁶HMDB, ⁹DGIdb, ⁵³PharmGKB, ³⁰IUPHAR, ⁴⁷Novoseek, ¹BitterDB
See all MalaCards sources

Drugs for High Bone Mass Osteogenesis Imperfecta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)

id

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Ergocalciferol

approved, nutraceutical

Phase 4

923

50-14-6

5280793

Synonyms:

'Ergosterol irradiated'

(+)-Vitamin D2

(3-beta,5Z,7E,22E)-9,10-Secoergosta-5,7,10,(19),22-tetraen-3-ol

(3S,5Z,7E,14xi,17alpha,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol

(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol

(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol

(3beta,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol

(3beta,5Z,7e,22e)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol

(5E,7E,22E)-9,10-Secoergosta-5,7,10,22-tetraen-3-ol

(5Z,7E,22E)-(3S)-9,10-seco-5,7,10(19),22-ergostatetraen-3-ol

(5Z,7E,22E)-(3S)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol

(5Z,7e,22e)-(3S)-9,10-Seco-5,7,10(19),22-ergostatetraen-3-ol

(5Z,7e,22e)-(3S)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol

22-Tetraen 3beta 9,10,Secoergosta-5,7,10(19)-ol

31316-19-5

4-Methylene-3-[2-[tetrahydro-7a-methyl-1-(1,4,5-trimethyl-2-hexenyl)-4(3aH)-indanylidene]ethylidene]-Cyclohexanol

47768_SUPELCO

50-14-6

7489-18-1

7E677DC1-E1C4-4FC5-8F4A-BCE1857F7E87

8017-28-5

9,10,Secoergosta-5,7,10(19),22-tetraen 3.beta.-ol

9,10-Seco(5Z,7E,22E)-5,7,10(19),22-ergostatetraen-3-ol

9,10-Secoergosta-5,7,10(19),22-tetraen-3-beta-ol

9,10-Secoergosta-5,7,10(19),22-tetraen-3b-ol

95220_FLUKA

95220_SIGMA

AC-1355

AC1L1FIE

AC1NQXLH

AC1NS4DE

AC1NS9GI

AC1NSSVD

AC1NWAM3

AC1O5EDK

AC1O6WAM

ACon1_002187

Activated ergosterol

BPBio1_000418

BSPBio_000380

BSPBio_001974

Buco-D

C05441

C28H44O

CALCIFEROL IN A GELATIN MATRIX

CALCIFEROL, U.S.P.

CHEBI:28934

CHEMBL1536

CID11003810

CID3249

CID5280793

CID5315257

CID5353610

CID5356615

CID5702050

CID6432478

CID6536972

Calciferol

Calciferol (TN)

Calciferol (vitamin D2)

Calciferolum

Calciferon 2

Condacaps

Condocaps

Condol

Crtron

Crystallina

D-Arthin

D-Tracetten

D00187

DB00153

Daral

Davitamon D

Davitin

De-rat concentrate

Decaps

Dee-Osterol

Dee-Ron

Dee-Ronal

Dee-Roual

Deltalin

Deratol

Detalup

Diactol

Divit urto

Doral

Drisdol

Drisdol (TN)

E5750_SIGMA

EINECS 200-014-9

Ercalciol

Ergocalciferol

Ergocalciferol (D2)

Ergocalciferol (JP15/USP)

Ergocalciferol [INN:BAN:JAN]

Ergocalciferol oil

Ergocalciferol: Vitamin D

Ergocalciferolo

Ergocalciferolo [DCIT]

Ergocalciferols

Ergocalciferolum

Ergocalciferolum [INN-Latin]

Ergorone

Ergosterol activated

Ergosterol irradiated

Ergosterol, irradiated

Ertron

Fortodyl

Geltabs

Geltabs Vitamin D

HMS1920K20

HMS2091B19

HMS502I07

HSDB 819

Haliver

Hi-Deratol

Hyperkil

I05-0022

IDI1_000805

Infron

Irradiated ergosta-5,7,22-trien-3-beta-ol

Irradiated ergosta-5,7,22-trien-3.beta.-ol

Irradiated ergosta-5,7,22-trien-3beta-ol

Irradiated ergosterol

LMST03010001

LMST03010014

LS-3228

MEGxm0_000466

MLS001332467

MLS001332468

Metadee

Mina D2

MolPort-001-740-057

MolPort-001-793-930

MolPort-002-526-645

MolPort-003-666-178

MolPort-006-822-629

Mulsiferol

Mykostin

NCGC00142497-01

NCGC00179579-01

NCGC00179579-02

NSC 62792

NSC62792

Novovitamin-D

Oleovitamin D

Oleovitamin D, Synthetic

Oleovitamin D2

Osteil

Ostelin

Prestwick3_000420

Prestwick_554

Radiostol

Radstein

Radsterin

Rodine C

Rodinec

SMR000857106

SPECTRUM1500276

ST057150

STOCK1N-53397

Shock-ferol

Shock-ferol sterogyl

Sorex C.R

Sorex C.R.

Spectrum5_000666

Sterogyl

Synthetic Vitamin D

UNII-VS041H42XC

Uvesterol D

Uvesterol-D

VITAMIN D2

VITAMIN D2 WATER DISPERSABLE U.S.P.

VITAMIN_D2

Vigantol

Vio D

Vio-D

Viostdrol

Viosterol

Viosterol in Oil

Vitamin D

Vitamin D2

Vitamin- D2

Vitamin-?D2

Vitamina D2

Vitavel-D

WLN: L56 FYTJ A1 BY1&1U1Y1&Y1&1 FU2U- BL6YYTJ AU1 DQ

ZINC04474571

ZINC04629876

beta-Ol

bmse000510

component of Geltabs Vitamin D

delta-Arthin

delta-Tracetten

ergocalciferol

vitamin d-2

2

Cholecalciferol

approved, nutraceutical

Phase 4

799

67-97-0

6221, 10883523, 5280795

Synonyms:

()-Vitamin D3

(+)-Vitamin D3

(+)-vitamin D3

(1S,3Z)-3-[(2e)-2-[(1R,3AR,7as)-7a-methyl-1-[(2R)-6-methylheptan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidene-cyclohexan-1-ol

(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol

(3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol

(3beta,5Z,7e)-9,10-Secocholesta-5,7,10(19)-trien-3-ol

(3beta,Z,7E)-9,10-Secocholesta-5,7,10(19)-trien-3-ol

(5E,7E)-9,10-Secocholesta-5,7,10-trien-3-ol

(5Z,7E)-(3S)-9,10-seco-5,7,10(19)-cholestatrien-3-ol

(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-trien-3-ol

(5Z,7e)-(3S)-9,10-Secocholesta-5,7,10(19)-trien-3-ol

1406-16-2

25(OH)D

3-beta,Z,7E-9,10-Secocholestr-5,7,10(19)-trien-3-ol

47763_SUPELCO

57651-82-8

67-97-0

7-Dehydrocholesterol activated

7-Dehydrocholesterol, Activated

7-Dehydrocholesterol, irradiated

7-Dehydrocholestrol, activated

8024-19-9

8050-67-7

89193_FLUKA

9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3-ol

9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3beta-ol

9,10-Secocholesta-5(Z),7(E),10(19)-trien-3(.beta.)-ol

9,10-Secocholesta-5,7,10(19)-trien-3-beta-ol

9,10-Secocholesta-5,7,10(19)-trien-3-ol

9,10-Secocholesta-5,7,10-trien-3-ol

AB1002422

AC-11697

AC1L1ECK

AC1L1M23

AC1LU7IZ

AC1NQXLN

AC1NR2UO

AC1NR2UR

AC1NR2UU

AC1NS4AJ

AC1NSHJX

AC1O5EOF

AC1O7GAV

AC1O7GQ3

AC1O8FEU

AC1O8PWJ

AC1OF2GI

AC1OF2GL

AC1OIEW5

AC1OIEWB

ACon1_001997

Activated 7-dehydrocholesterol

Arachitol

BPBio1_000460

BSPBio_000418

BSPBio_002408

Bio-0845

C05443

C1357_SIAL

C27H44O

C9756_SIGMA

C9774_SIAL

CAS-67-97-0

CC

CCRIS 5813

CCRIS 6286

CHEBI:283119

CHEBI:28940

CHEMBL1042

CHEMBL432780

CID10000117

CID10045875

CID10340013

CID10883523

CID10894379

CID11014566

CID11025493

CID11058152

CID11463269

CID1548921

CID2735

CID5280795

CID5283710

CID5283711

CID5283712

CID5353527

CID5363362

CID6221

CID6432644

CID6604201

CID6604662

CID6708595

CID6713938

CID6992015

CID6992016

CID7067439

CID7067440

CID7251172

CID7251174

CID9821465

Calciol

Cholecalciferol

Cholecalciferol (D3)

Cholecalciferol (JP15/USP)

Cholecalciferol D3

Cholecalciferol [USAN:BAN:JAN]

Cholecalciferol, D3

Cholecalciferolum

Colecalciferol

Colecalciferol (INN)

Colecalciferolo

Colecalciferolo [DCIT]

Colecalciferolum

Colecalciferolum [INN-Latin]

Colecalcipherol

D00188

D3-Vicotrat

D3-Vigantol

DB00169

Delsterol

Delta-D

Delta-D (TN)

Deparal

Devaron

DivK1c_006276

Duphafral D3 1000

EINECS 200-673-2

EINECS 215-797-2

EPA Pesticide Chemical Code 202901

Ebivit

FeraCol

Granuvit D3

HMS1569E20

HMS2092M12

HSDB 820

I05-0041

Irradiated 7-dehydrocholesterol

KBio1_001220

KBio2_001643

KBio2_004211

KBio2_006779

KBio3_001628

KBioGR_001602

KBioSS_001643

LMST03020001

LMST03020219

LMST03020220

LMST03020221

LS-1570

LS-825

LT00244775

MEGxm0_000458

Micro-dee

MolPort-001-740-051

MolPort-001-785-972

MolPort-003-666-021

MolPort-004-946-964

NCGC00016301-01

NCGC00017328-01

NCGC00091072-01

NCGC00142511-01

NCGC00159331-02

NCGC00159331-04

NCGC00178668-01

NCGC00179565-01

NCGC00179565-02

NEO Dohyfral D3

NSC 375571

NSC-375571

NSC375571

Oleovitamin D3

Prestwick0_000429

Prestwick1_000429

Prestwick2_000429

Prestwick3_000429

Prestwick_63

Provitamine

Provitina

Quintox

Rampage

Ricketon

SMP1_000068

SPBio_001298

SPBio_002357

SR-05000001559

SR-05000001559-3

ST057172

SpecPlus_000180

Spectrum2_001369

Spectrum3_000764

Spectrum4_001201

Spectrum_001163

TNP00266

Trivitan

UNII-1C6V77QF41

UPCMLD-DP152

UPCMLD-DP152:001

VITAMIN D

VITAMIN D3 POWDER

VITAMIN_D3

Vi-De3

Vi-de-3-hydrosol

VidDe-3-hydrosol

Videkhol

Vigantol

Vigorsan

Vitamin D3

Vitamin D3 emulsifiable

Vitinc Dan-Dee-3

ZINC04474460

ZINC04492874

ZINC04492875

ZINC04492876

ZINC04492878

bmse000507

calciol

cholecalciferol

delta-D

vitamin d-3

3

vitamin d

Phase 4

1524

4

Vitamins

Phase 4

3857

5

Trace Elements

Phase 4

3900

6

Ergocalciferols

Phase 4

923

7

Micronutrients

Phase 4

3901

8

Bone Density Conservation Agents

Phase 4

2600

9

Calciferol

Nutraceutical

Phase 4

1074

10

Vitamin D2

Nutraceutical

Phase 4

923

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta	Completed	NCT01713231	Phase 4

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:
³³MalaCards
See all MalaCards sources

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

³³

Bone, Eye, Lymph node

Animal Models for High Bone Mass Osteogenesis Imperfecta or affiliated genes

Publications for High Bone Mass Osteogenesis Imperfecta

Sources:
⁵⁴PubMed
See all MalaCards sources

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:
²⁰GeneCards, ⁵¹Orphanet
See all MalaCards sources

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

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	COL1A1	Collagen Type I Alpha 1	368.45	Causative germline mutation ⁵¹ GeneCards inferred via : Publications (show sections)
2	COL1A2	Collagen Type I Alpha 2	368.45	Causative germline mutation ⁵¹ GeneCards inferred via : Publications (show sections)

Variations for High Bone Mass Osteogenesis Imperfecta

Expression for genes affiliated with High Bone Mass Osteogenesis Imperfecta

Sources:
¹⁷Gene Expression Omnibus DataSets
See all MalaCards sources

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

Pathways for genes affiliated with High Bone Mass Osteogenesis Imperfecta

Sources:
⁵²PathCards, ³¹KEGG, ⁵⁷Reactome, ⁵⁵QIAGEN, ⁶²Thomson Reuters, ³⁹NCBI BioSystems Database, ⁵³PharmGKB
See all MalaCards sources

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

(show all 18)

id	Super pathways	Score	Top Affiliating Genes
1	ECM-receptor interaction³¹ Show member pathways Integrin cell surface interactions⁵⁷	9.1	COL1A1, COL1A2
2	Binding and Uptake of Ligands by Scavenger Receptors⁵⁷ Show member pathways Scavenging of heme from plasma⁵⁷ Scavenging by Class A Receptors⁵⁷ Scavenging by Class F Receptors⁵⁷ Scavenging by Class H Receptors⁵⁷ Scavenging by Class B Receptors⁵⁷	9.1	COL1A1, COL1A2
3	Platelet activation³¹	9.1	COL1A1, COL1A2
4	PI3K-Akt signaling pathway³¹	9.1	COL1A1, COL1A2
5	Collagen biosynthesis and modifying enzymes⁵⁷ Show member pathways Collagen formation⁵⁷ Anchoring fibril formation⁵⁷ Assembly of collagen fibrils and other multimeric structures⁵⁷ Crosslinking of collagen fibrils⁵⁷ Blood Coagulation Cascade⁵⁵ Intrinsic Prothrombin Activation Pathway⁵⁵	9.1	COL1A1, COL1A2
6	Development Endothelin-1/EDNRA signaling⁶² Show member pathways Development Endothelin-1/EDNRA transactivation of EGFR⁶² Inflammatory mediator regulation of TRP channels³¹ Estrogen signaling pathway³¹ Cytoskeleton remodeling FAK signaling⁶² GnRH signaling pathway³¹	9.1	COL1A1, COL1A2
7	Degradation of the extracellular matrix⁵⁷ Show member pathways Extracellular matrix organization⁵⁷ Collagen degradation⁵⁷	9.1	COL1A1, COL1A2
8	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases⁶² Show member pathways Cytoskeleton remodeling Integrin outside-in signaling⁶² Cell adhesion Integrin-mediated cell adhesion and migration⁶² Cell adhesion Tight junctions⁶² Development MAG-dependent inhibition of neurite outgrowth⁶²	9.1	COL1A1, COL1A2
9	AGE-RAGE signaling pathway in diabetic complications³¹	9.1	COL1A1, COL1A2
10	Amoebiasis³¹	9.1	COL1A1, COL1A2
11	Development_Hedgehog and PTH signaling pathways in bone and cartilage development⁶²	9.1	COL1A1, COL1A2
12	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms⁶²	9.1	COL1A1, COL1A2
13	Inflammatory Response Pathway³⁹	9.1	COL1A1, COL1A2
14	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics⁵³	9.1	COL1A1, COL1A2
15	Cell adhesion_ECM remodeling⁶²	9.1	COL1A1, COL1A2
16	Protein digestion and absorption³¹	9.1	COL1A1, COL1A2
17	IL4-mediated signaling events³⁹	9.1	COL1A1, COL1A2
18	VEGFR3 signaling in lymphatic endothelium³⁹	9.1	COL1A1, COL1A2

GO Terms for genes affiliated with High Bone Mass Osteogenesis Imperfecta

Sources:
¹⁸Gene Ontology
See all MalaCards sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	collagen type I trimer	GO:0005584	9.1	COL1A1, COL1A2

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

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	platelet activation	GO:0030168	9.4	COL1A1, COL1A2
2	blood coagulation	GO:0007596	9.4	COL1A1, COL1A2
3	collagen catabolic process	GO:0030574	9.2	COL1A1, COL1A2
4	cellular response to amino acid stimulus	GO:0071230	9.1	COL1A1, COL1A2
5	extracellular matrix disassembly	GO:0022617	9.1	COL1A1, COL1A2
6	leukocyte migration	GO:0050900	9.0	COL1A1, COL1A2
7	skin morphogenesis	GO:0043589	8.8	COL1A1, COL1A2