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

Sources

Aliases & Classifications for High Bone Mass Osteogenesis Imperfecta

Aliases & Descriptions for High Bone Mass Osteogenesis Imperfecta:

Name: High Bone Mass Osteogenesis Imperfecta ⁵⁶

High Bone Mass Oi ⁵⁶

Characteristics:

Orphanet epidemiological data:

⁵⁶

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: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Osteogenesis imperfecta

Orphanet: ⁵⁶

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁶ ORPHA314029

ICD10 via Orphanet ³⁴ Q78.0

Sources

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 cngb3-related stargardt disease 1 and isolated lissencephaly type 1 without known genetic defects. An important gene associated with High Bone Mass Osteogenesis Imperfecta is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Development Endothelin-1/EDNRA signaling. The drugs Cholecalciferol and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include bone.

Sources

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 33)

id	Related Disease	Score	Top Affiliating Genes
1	cngb3-related stargardt disease 1	10.0	COL1A1 COL1A2
2	isolated lissencephaly type 1 without known genetic defects	10.0	COL1A1 COL1A2
3	charcot-marie-tooth neuropathy type 2a	10.0	COL1A1 COL1A2
4	prph2-related retinitis pigmentosa	10.0	COL1A1 COL1A2
5	20p13 microdeletion syndrome	10.0	COL1A1 COL1A2
6	phyh-related refsum disease	10.0	COL1A1 COL1A2
7	epileptic encephalopathy, early infantile, 36	10.0	COL1A1 COL1A2
8	porphyria cutanea tarda	10.0	COL1A1 COL1A2
9	factor xiiia deficiency	10.0	COL1A1 COL1A2
10	human herpesvirus 8	10.0	COL1A1 COL1A2
11	osteogenesis imperfecta, type iii	10.0	COL1A1 COL1A2
12	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	10.0	COL1A1 COL1A2
13	autism susceptibility 16	10.0	COL1A1 COL1A2
14	long qt syndrome 1	10.0	COL1A1 COL1A2
15	muscle hypertrophy	10.0	COL1A1 COL1A2
16	diabetic neuropathy	10.0	COL1A1 COL1A2
17	ceroid lipofuscinosis, neuronal, 11	10.0	COL1A1 COL1A2
18	agraphia	10.0	COL1A1 COL1A2
19	neuropathy, distal hereditary motor, type iia	9.9	COL1A1 COL1A2
20	xanthinuria	9.9	COL1A1 COL1A2
21	deafness, autosomal recessive 61	9.9	COL1A1 COL1A2
22	splenic flexure cancer	9.9	COL1A1 COL1A2
23	mental retardation, autosomal recessive 35	9.9	COL1A1 COL1A2
24	osteogenesis imperfecta, type ii	9.9	COL1A1 COL1A2
25	ehlers-danlos syndrome, cardiac valvular form	9.9	COL1A1 COL1A2
26	osteogenesis imperfecta	9.9
27	bone structure disease	9.9	COL1A1 COL1A2
28	herpes simplex	9.9	COL1A1 COL1A2
29	sclerocornea	9.9	COL1A1 COL1A2
30	tinea manuum	9.8	COL1A1 COL1A2
31	carnitine deficiency, systemic primary	9.8	COL1A1 COL1A2
32	prostatocystitis	9.8	COL1A1 COL1A2
33	clivus meningioma	9.7	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

Sources

Drugs & Therapeutics for High Bone Mass Osteogenesis Imperfecta

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

(show all 14)

id

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Cholecalciferol

Approved, Nutraceutical

Phase 4

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

(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

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

(3β,5Z,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

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-3beta-ol

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

Bio-0845

bmse000507

BPBio1_000460

BSPBio_000418

BSPBio_002408

C05443

C1357_SIAL

C27H44O

C9756_SIGMA

C9774_SIAL

Calciol

CAS-67-97-0

CC

CCRIS 5813

CCRIS 6286

CHEBI:283119

CHEBI:28940

CHEMBL1042

CHEMBL432780

cholecalciferol

Cholecalciferol

Cholecalciferol (D3)

Cholecalciferol (JP15/USP)

Cholecalciferol [USAN:BAN:JAN]

Cholecalciferol D3

Cholecalciferol, D3

Cholecalciferolum

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

Colecalciferol

Colecalciferol (INN)

Colecalciferolo

Colecalciferolo [DCIT]

colecalciferolum

Colecalciferolum

Colecalciferolum [INN-Latin]

Colecalcipherol

D00188

D3-Vicotrat

D3-Vigantol

DB00169

Delsterol

Delta-D

Delta-D (TN)

Deparal

Devaron

DivK1c_006276

Duphafral D3 1000

Ebivit

EINECS 200-673-2

EINECS 215-797-2

EPA Pesticide Chemical Code 202901

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

NSC375571

NSC-375571

Oleovitamin D3

Prestwick_63

Prestwick0_000429

Prestwick1_000429

Prestwick2_000429

Prestwick3_000429

Provitamine

Provitina

Quintox

Rampage

Ricketon

SMP1_000068

SPBio_001298

SPBio_002357

SpecPlus_000180

Spectrum_001163

Spectrum2_001369

Spectrum3_000764

Spectrum4_001201

SR-05000001559

SR-05000001559-3

ST057172

TNP00266

Trivitan

UNII-1C6V77QF41

UPCMLD-DP152

UPCMLD-DP152:001

VidDe-3-hydrosol

Vi-De3

Vi-de-3-hydrosol

Videkhol

Vigantol

Vigorsan

VITAMIN D

vitamin d-3

Vitamin D3

Vitamin D-3

Vitamin D3 emulsifiable

VITAMIN D3 POWDER

VITAMIN_D3

Vitinc Dan-Dee-3

ZINC04474460

ZINC04492874

ZINC04492875

ZINC04492876

ZINC04492878

2

Ergocalciferol

Approved, Nutraceutical

Phase 4

50-14-6

5280793

Synonyms:

(+)-Vitamin D2

(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

(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

(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-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-secoergosta-5,7,10(19),22-tetraen-3-ol

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

31316-19-5

47768_SUPELCO

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

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

beta-Ol

bmse000510

BPBio1_000418

BSPBio_000380

BSPBio_001974

Buco-D

C05441

C28H44O

Calciferol

Calciferol (TN)

Calciferol (vitamin D2)

CALCIFEROL IN A GELATIN MATRIX

CALCIFEROL, U.S.P.

Calciferolum

Calciferon 2

CHEBI:28934

CHEMBL1536

CID11003810

CID3249

CID5280793

CID5315257

CID5353610

CID5356615

CID5702050

CID6432478

CID6536972

component of Geltabs Vitamin D

Condacaps

Condocaps

Condol

Crtron

Crystallina

D00187

Daral

D-Arthin

Davitamon D

Davitin

DB00153

Decaps

Dee-Osterol

Dee-Ron

Dee-Ronal

Dee-Roual

delta-Arthin

Deltalin

delta-Tracetten

De-rat concentrate

Deratol

Detalup

Diactol

Divit urto

Doral

Drisdol

Drisdol (TN)

D-Tracetten

E5750_SIGMA

EINECS 200-014-9

Ercalciol

ergocalciferol

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'

Ergosterol, irradiated

Ertron

Fortodyl

Geltabs

Geltabs Vitamin D

Haliver

Hi-Deratol

HMS1920K20

HMS2091B19

HMS502I07

HSDB 819

Hyperkil

I05-0022

IDI1_000805

Infron

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

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

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

Irradiated ergosterol

LMST03010001

LMST03010014

LS-3228

MEGxm0_000466

Metadee

Mina D2

MLS001332467

MLS001332468

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

Novovitamin-D

NSC 62792

NSC62792

Oleovitamin D

Oleovitamin D, Synthetic

Oleovitamin D2

Osteil

Ostelin

Prestwick_554

Prestwick3_000420

Radiostol

Radstein

Radsterin

Rodine C

Rodinec

Shock-ferol

Shock-ferol sterogyl

SMR000857106

Sorex C.R

Sorex C.R.

SPECTRUM1500276

Spectrum5_000666

ST057150

Sterogyl

STOCK1N-53397

Synthetic Vitamin D

UNII-VS041H42XC

Uvesterol D

Uvesterol-D

Vigantol

Vio D

Vio-D

Viostdrol

Viosterol

Viosterol in Oil

vitamin d-2

Vitamin D2

Vitamin- D2

VITAMIN D2

VITAMIN D2 WATER DISPERSABLE U.S.P.

Vitamin-?D2

VITAMIN_D2

Vitamina D2

Vitavel-D

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

ZINC04474571

ZINC04629876

3

vitamin d

Phase 4

4

Trace Elements

Phase 4

5

Ergocalciferols

Phase 4

6

Vitamins

Phase 4

7

Micronutrients

Phase 4

8

Bone Density Conservation Agents

Phase 4

9

Vitamin D2

Nutraceutical

Phase 4

10

Calciferol

Nutraceutical

Phase 4

11

Immunoglobulins

Phase 1

12

Antibodies, Monoclonal

Phase 1

13

Antibodies

Phase 1

14

Menthol

Approved

2216-51-5

16666

Synonyms:

(&#8722

(-)-(1R,3R,4S)-Menthol

(-)-menthol

()-Menthol

(-)-Menthyl alcohol

(-)-p-Menthan-3-ol

(-)-trans-p-Menthan-cis-ol

(+-)-(1R*,3R*,4S*)-Menthol

(+-)-Menthol

(+)-Neo-menthol

(+)-p-Menthan-3-ol

(+/-)-Menthol

(+/-)-p-Menthan-3-ol

(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol

(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol

(1R)-(-)-Menthol

(1r,2s,5r)-(-)-menthol

(1R,2S,5R)-(-)-menthol

(1R,2S,5R)-Menthol

(1R,3R,4S)-(-)-Menthol

(1R,3R,4S)-(-)-MENTHOL

(1S, 2S, 5R)-(+)-Neomenthol

(1S,2R,5R)-(+)-Isomenthol

(1S,2R,5S)-(+)-Menthol

(1S,2R,5S)-Menthol

(L)-MENTHOL

(r)-(-)-menthol

(R)-(-)-Menthol

)-Menthol

1490-04-6

15356-60-2

15356-70-4

15785_RIEDEL

15785_SIAL

19863P

1-Menthol

20747-49-3

2216-51-5

2-Isopropyl-5-methylcyclohexanol

3-p-Menthol

491-02-1

4-Isopropyl-1-methylcyclohexan-3-ol

551376_ALDRICH

551376_FLUKA

588733_ALDRICH

5-Methyl-2-(1-methylethyl)cyclohexanol

5-Methyl-2-(1-methylethyl)-cyclohexanol

5-methyl-2-(propan-2-yl)cyclohexanol

5-methyl-2-propan-2-ylcyclohexan-1-ol

613290_ALDRICH

613290_FLUKA

63660_FLUKA

63670_ALDRICH

63670_FLUKA

63975-60-0

6C6A4A8C-A054-468C-A1F0-F29E39838CF2

89-78-1

98167-53-4

AC1L1B2E

AC1L28FR

AC1Q1NQ2

AC1Q2QQM

AI3-08161

AI3-52408

AKOS000119740

AR-1J3337

BB_NC-0057

BRN 1902288

BRN 3194263

BSPBio_003062

C00400

C10H20O

Caswell No. 540

CCRIS 3728

CCRIS 375

CCRIS 4666

CCRIS 9231

CHEBI:15409

CHEBI:545611

CHEMBL256087

CHEMBL470670

CID1254

CID16666

cis-1 ,3-trans-1,4-(+-)-menthol

cis-1,3-trans-1,4-(+-)-menthol

D-(-)-Menthol

d,l-Menthol

D00064

D008610

D04849

D04918

DB00825

DivK1c_000820

dl-3-p-Menthanol

dl-Menthol

dl-Menthol (JP15)

d-Menthol

d-Neomenthol

D-p-Menthan-3-ol

EINECS 201-939-0

EINECS 207-724-8

EINECS 216-074-4

EINECS 218-690-9

EINECS 239-387-8

EINECS 239-388-3

EPA Pesticide Chemical Code 051601

FEMA No. 2665

Fisherman's friend lozenges

Fisherman's friend lozenges (TN)

Headache crystals

Hexahydrothymol

HMS1922G13

HMS2092L14

HMS502I22

HSDB 5662

HSDB 593

I06-1216

I14-7371

IDI1_000820

KBio1_000820

KBio2_000785

KBio2_003353

KBio2_005921

KBio3_002562

KBioSS_000785

l-(-)-Menthol

L-(-)-menthol

L-(-)-Menthol

Levomenthol

Levomenthol [INN:BAN]

Levomentholum

Levomentholum [INN-Latin]

Levomentol

l-Menthol

L-menthol

L-Menthol

l-Menthol (JP15)

l-Menthol (natural)

l-Menthol (TN)

LMPR0102090001

LS-2353

LS-57201

LS-886

LS-89531

LS-89533

M0321

M0545

M2772_SIAL

Menthacamphor

Menthol

MENTHOL

--MENTHOL

Menthol (USP)

Menthol (VAN)

Menthol natural

Menthol natural, brazilian

Menthol racemic

Menthol racemique

Menthol racemique [French]

Menthol solution

Menthol, (1alpha,2beta,5alpha)-Isomer

Menthomenthol

Menthyl alcohol

MLS002207256

MolPort-000-849-729

MolPort-001-793-392

NCGC00159382-02

NCGC00159382-03

NCGC00164247-01

NCGC00164247-02

nchembio862-comp1

NCI-C50000

Neoisomenthol

NINDS_000820

NOOLISFMXDJSKH-KXUCPTDWBX

NSC 2603

NSC 62788

NSC2603

NSC62788

Peppermint camphor

p-Menthan-3-ol

Racementhol

Racementhol [INN:BAN]

Racementholum

Racementholum [INN-Latin]

Racementol

Racementol [INN-Spanish]

Racemic menthol

RACEMIC MENTHOL U.S.P.

rac-Menthol

Robitussin Cough Drops

SDCCGMLS-0066659.P001

SMR001306785

SPBio_000869

Spectrum_000305

SPECTRUM1503134

Spectrum2_000855

Spectrum3_001561

Spectrum5_001060

STK802468

Tra-kill tracheal mite killer

U.S.p. Menthol

U.S.P. Menthol

UNII-BZ1R15MTK7

UNII-L7T10EIP3A

UNII-YS08XHA860

W266507_ALDRICH

W266523_ALDRICH

W266590_ALDRICH

WLN: L6TJ AY1&1 BQ D1

WLN: L6TJ AY1&1 DQ D1 -L

ZINC01482164

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
2	Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta	Not yet recruiting	NCT03064074	Phase 1
3	Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility	Completed	NCT03029312

Search NIH Clinical Center for High Bone Mass Osteogenesis Imperfecta

Sources

Genetic Tests for High Bone Mass Osteogenesis Imperfecta

Sources

Anatomical Context for High Bone Mass Osteogenesis Imperfecta

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

³⁹

Bone

Sources

Publications for High Bone Mass Osteogenesis Imperfecta

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

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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

id	Symbol	Description	Score	Implication	PubmedIds
1	COL1A1	Collagen Type I Alpha 1 Chain	379.09	Causative germline mutation ⁵⁶ GeneCards inferred via : Disorders Publications (show sections)
2	COL1A2	Collagen Type I Alpha 2 Chain	379.09	Causative germline mutation ⁵⁶ GeneCards inferred via : Disorders 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 17)

id	Super pathways	Score	Top Affiliating Genes
1	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 ³⁷	12.29	COL1A1 COL1A2
2	Development Endothelin-1/EDNRA signaling ²¹ Show member pathways Cytoskeleton remodeling FAK signaling ²¹ Development Endothelin-1/EDNRA transactivation of EGFR ²¹ Estrogen signaling pathway ³⁷ GnRH signaling pathway ³⁷ Inflammatory mediator regulation of TRP channels ³⁷	12.24	COL1A1 COL1A2
3	Degradation of the extracellular matrix ⁶² Show member pathways Collagen degradation ⁶² Extracellular matrix organization ⁶²	12.2	COL1A1 COL1A2
4	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
5	PI3K-Akt signaling pathway ³⁷	12.06	COL1A1 COL1A2
6	ECM-receptor interaction ³⁷ Show member pathways Integrin cell surface interactions ⁶²	11.69	COL1A1 COL1A2
7	Platelet activation ³⁷	11.58	COL1A1 COL1A2
8	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
9	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.45	COL1A1 COL1A2
10	Amoebiasis ³⁷	11.42	COL1A1 COL1A2
11	IL4-mediated signaling events ¹	11.2	COL1A1 COL1A2
12	Cell adhesion_ECM remodeling ²¹	11.15	COL1A1 COL1A2
13	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁵⁸	11.03	COL1A1 COL1A2
14	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms ²¹	10.86	COL1A1 COL1A2
15	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²¹	10.75	COL1A1 COL1A2
16	Inflammatory Response Pathway ¹	10.47	COL1A1 COL1A2
17	VEGFR3 signaling in lymphatic endothelium ¹	9.98	COL1A1 COL1A2

Sources

GO Terms for High Bone Mass Osteogenesis Imperfecta

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

id	Name	GO ID	Score	Top Affiliating Genes
1	proteinaceous extracellular matrix	GO:0005578	9.32	COL1A1 COL1A2
2	extracellular matrix	GO:0031012	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)

id	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:

id	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

Sources

Sources for High Bone Mass Osteogenesis Imperfecta

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁵ DrugBank

¹⁶ ExPASy

¹⁷ FDA Approved Drugs

¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ GeneTests

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MeSH

⁴³ MESH via Orphanet

⁴⁴ MGI

⁴⁵ NCBI Bookshelf

⁴⁶ NCI

⁴⁷ NCIt

⁴⁸ NDF-RT

⁴⁹ NIH Clinical Center

⁵⁰ NIH Rare Diseases

⁵¹ NINDS

⁵² Novoseek

⁵³ Novus Biologicals

⁵⁴ OMIM

⁵⁵ OMIM via Orphanet

⁵⁶ Orphanet

⁵⁷ PathCards

⁵⁸ PharmGKB

⁵⁹ PubMed

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via Orphanet

⁶⁶ UniProtKB/Swiss-Prot

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ Wikipedia

High Bone Mass Osteogenesis Imperfecta malady

Aliases & Classifications for High Bone Mass Osteogenesis Imperfecta

Aliases & Descriptions for High Bone Mass Osteogenesis Imperfecta:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for High Bone Mass Osteogenesis Imperfecta

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:

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

Symptoms & Phenotypes for High Bone Mass Osteogenesis Imperfecta

Drugs & Therapeutics for High Bone Mass Osteogenesis Imperfecta

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

Interventional clinical trials:

Genetic Tests for High Bone Mass Osteogenesis Imperfecta

Anatomical Context for High Bone Mass Osteogenesis Imperfecta

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

Publications for High Bone Mass Osteogenesis Imperfecta

Articles related to High Bone Mass Osteogenesis Imperfecta:

Genes for High Bone Mass Osteogenesis Imperfecta

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

Variations for High Bone Mass Osteogenesis Imperfecta

Expression for High Bone Mass Osteogenesis Imperfecta

Pathways for High Bone Mass Osteogenesis Imperfecta

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

GO Terms for High Bone Mass Osteogenesis Imperfecta

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

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

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

Sources for High Bone Mass Osteogenesis Imperfecta