MCID: HGH023
MIFTS: 25

High Bone Mass Osteogenesis Imperfecta malady

Categories: Bone diseases, Fetal diseases, Rare diseases

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:



External Ids:

Orphanet 56 ORPHA314029
ICD10 via Orphanet 34 Q78.0

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.

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:



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):

(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
2
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
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

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

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:

39
Bone

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 )
2011

Variations for High Bone Mass Osteogenesis Imperfecta

Expression for High Bone Mass Osteogenesis Imperfecta

Search GEO for disease gene expression data 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:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 COL1A1 COL1A2
2
Show member pathways
12.24 COL1A1 COL1A2
3
Show member pathways
12.2 COL1A1 COL1A2
4
Show member pathways
12.09 COL1A1 COL1A2
5 12.06 COL1A1 COL1A2
6
Show member pathways
11.69 COL1A1 COL1A2
7 11.58 COL1A1 COL1A2
8
Show member pathways
11.49 COL1A1 COL1A2
9 11.45 COL1A1 COL1A2
10 11.42 COL1A1 COL1A2
11 11.2 COL1A1 COL1A2
12 11.15 COL1A1 COL1A2
13 11.03 COL1A1 COL1A2
14 10.86 COL1A1 COL1A2
15 10.75 COL1A1 COL1A2
16 10.47 COL1A1 COL1A2
17 9.98 COL1A1 COL1A2

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 for High Bone Mass Osteogenesis Imperfecta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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