MCID: HGH023
MIFTS: 25

High Bone Mass Osteogenesis Imperfecta

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for High Bone Mass Osteogenesis Imperfecta

MalaCards integrated aliases for High Bone Mass Osteogenesis Imperfecta:

Name: High Bone Mass Osteogenesis Imperfecta 58 29
High Bone Mass Oi 58

Characteristics:

Orphanet epidemiological data:

58
high bone mass osteogenesis imperfecta
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q78.0
Orphanet 58 ORPHA314029

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 bone resorption disease. 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 Phospholipase-C Pathway and Collagen chain trimerization. Affiliated tissues include bone, and related phenotypes are adipose tissue and limbs/digits/tail

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 43)
# Related Disease Score Top Affiliating Genes
1 brittle bone disorder 29.9 COL1A2 COL1A1 BMP1
2 bone resorption disease 29.7 COL1A2 COL1A1
3 myositis ossificans 9.8 COL1A1 BMP1
4 ehlers-danlos/osteogenesis imperfecta syndrome 9.8 COL1A2 COL1A1
5 col1a1/2 osteogenesis imperfecta 9.8 COL1A2 COL1A1
6 osteogenesis imperfecta, type i 9.8 COL1A2 COL1A1
7 osteogenesis imperfecta, type ii 9.8 COL1A2 COL1A1
8 arthrochalasia ehlers-danlos syndrome 9.8 COL1A2 COL1A1
9 ehlers-danlos syndrome 9.8 COL1A2 COL1A1
10 larsen-like syndrome 9.8 COL1A2 COL1A1
11 fibrogenesis imperfecta ossium 9.8 COL1A2 COL1A1
12 ehlers-danlos syndrome, arthrochalasia type, 2 9.8 COL1A2 COL1A1
13 scleroderma, familial progressive 9.8 COL1A2 COL1A1
14 diffuse scleroderma 9.8 COL1A2 COL1A1
15 syndromic x-linked intellectual disability cabezas type 9.8 COL1A2 COL1A1
16 osteogenesis imperfecta, type v 9.8 COL1A2 COL1A1
17 ehlers-danlos syndrome, cardiac valvular type 9.8 COL1A2 COL1A1
18 osteogenesis imperfecta, type vii 9.8 COL1A2 COL1A1
19 classic ehlers-danlos syndrome 9.8 COL1A2 COL1A1
20 x-linked alport syndrome 9.8 COL1A2 COL1A1
21 alport syndrome 9.8 COL1A2 COL1A1
22 caffey disease 9.8 COL1A2 COL1A1
23 osteoporosis, juvenile 9.7 COL1A2 COL1A1
24 spinal stenosis 9.7 COL1A2 COL1A1
25 oral submucous fibrosis 9.7 COL1A2 COL1A1
26 collagen disease 9.7 COL1A2 COL1A1
27 pelvic organ prolapse 9.7 COL1A2 COL1A1
28 bone structure disease 9.7 COL1A2 COL1A1
29 osteogenesis imperfecta, type iv 9.7 COL1A2 COL1A1
30 ehlers-danlos syndrome, classic type, 1 9.7 COL1A2 COL1A1
31 bone development disease 9.7 COL1A2 COL1A1
32 endosteal hyperostosis, autosomal dominant 9.7 COL1A2 COL1A1
33 bone remodeling disease 9.6 COL1A2 COL1A1
34 otosclerosis 9.6 COL1A2 COL1A1
35 stickler syndrome 9.6 COL1A2 COL1A1
36 bruck syndrome 9.5 COL1A2 COL1A1 BMP1
37 dentinogenesis imperfecta 9.5 COL1A2 COL1A1 BMP1
38 phenylketonuria 9.5 COL1A2 COL1A1
39 osteogenesis imperfecta, type iii 9.5 COL1A2 COL1A1 BMP1
40 hyperostosis 9.5 COL1A2 COL1A1 BMP1
41 odontochondrodysplasia 9.5 COL1A2 COL1A1 BMP1
42 osteoporosis 9.5 COL1A2 COL1A1 BMP1
43 marfan syndrome 9.4 COL1A2 COL1A1

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

MGI Mouse Phenotypes related to High Bone Mass Osteogenesis Imperfecta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.33 BMP1 COL1A1 COL1A2
2 limbs/digits/tail MP:0005371 9.13 BMP1 COL1A1 COL1A2
3 muscle MP:0005369 8.8 BMP1 COL1A1 COL1A2

Drugs & Therapeutics for High Bone Mass Osteogenesis Imperfecta

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

Genetic Tests for High Bone Mass Osteogenesis Imperfecta

Genetic tests related to High Bone Mass Osteogenesis Imperfecta:

# Genetic test Affiliating Genes
1 High Bone Mass Osteogenesis Imperfecta 29

Anatomical Context for High Bone Mass Osteogenesis Imperfecta

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

40
Bone

Publications for High Bone Mass Osteogenesis Imperfecta

Articles related to High Bone Mass Osteogenesis Imperfecta:

# Title Authors PMID Year
1
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. 61
28916840 2018
2
Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation. 61
27264419 2016
3
COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? 61
24891183 2015
4
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. 61
21344539 2011
5
Classical investigation of incomplete collagen C-propeptide processing reveals a distinctive high bone mass OI phenotype. 61
21618347 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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 COL1A2 COL1A1 BMP1
2
Show member pathways
12.28 COL1A2 COL1A1 BMP1
3
Show member pathways
12.13 COL1A2 COL1A1
4
Show member pathways
11.99 COL1A2 COL1A1 BMP1
5 11.88 COL1A2 COL1A1
6
Show member pathways
11.75 COL1A2 COL1A1
7 11.64 COL1A2 COL1A1
8
Show member pathways
11.55 COL1A2 COL1A1
9 11.53 COL1A2 COL1A1
10 11.51 COL1A2 COL1A1
11 11.28 COL1A2 COL1A1
12 11.24 COL1A2 COL1A1
13 11.14 COL1A2 COL1A1
14 10.92 COL1A2 COL1A1
15 10.85 COL1A2 COL1A1
16 10.48 COL1A2 COL1A1 BMP1
17 10.47 COL1A2 COL1A1
18 9.98 COL1A2 COL1A1

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 space GO:0005615 9.5 COL1A2 COL1A1 BMP1
2 endoplasmic reticulum lumen GO:0005788 9.26 COL1A2 COL1A1
3 extracellular matrix GO:0031012 9.16 COL1A2 COL1A1
4 collagen trimer GO:0005581 8.96 COL1A2 COL1A1
5 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.49 COL1A2 COL1A1
2 regulation of immune response GO:0050776 9.48 COL1A2 COL1A1
3 leukocyte migration GO:0050900 9.46 COL1A2 COL1A1
4 blood coagulation GO:0007596 9.43 COL1A2 COL1A1
5 platelet activation GO:0030168 9.4 COL1A2 COL1A1
6 ossification GO:0001503 9.37 COL1A1 BMP1
7 blood vessel development GO:0001568 9.32 COL1A2 COL1A1
8 cellular response to amino acid stimulus GO:0071230 9.26 COL1A2 COL1A1
9 collagen fibril organization GO:0030199 9.16 COL1A2 COL1A1
10 skin morphogenesis GO:0043589 8.96 COL1A2 COL1A1
11 skeletal system development GO:0001501 8.8 COL1A2 COL1A1 BMP1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.5 COL1A2 COL1A1 BMP1
2 extracellular matrix structural constituent GO:0005201 9.26 COL1A2 COL1A1
3 protease binding GO:0002020 9.16 COL1A2 COL1A1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A2 COL1A1
5 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1

Sources for High Bone Mass Osteogenesis Imperfecta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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