MCID: HGH023
MIFTS: 26

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 59
High Bone Mass Oi 59

Characteristics:

Orphanet epidemiological data:

59
high bone mass osteogenesis imperfecta
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 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 brittle bone disorder and osteogenesis imperfecta, type vi. 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

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

Anatomical Context for High Bone Mass Osteogenesis Imperfecta

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

41
Bone

Publications for High Bone Mass Osteogenesis Imperfecta

Articles related to High Bone Mass Osteogenesis Imperfecta:

# Title Authors Year
1
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. ( 28916840 )
2017
2
Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation. ( 27264419 )
2016
3
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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 BMP1 COL1A1 COL1A2
2
Show member pathways
12.27 BMP1 COL1A1 COL1A2
3
Show member pathways
11.99 BMP1 COL1A1 COL1A2
4
Show member pathways
11.72 COL1A1 COL1A2
5 11.63 COL1A1 COL1A2
6
Show member pathways
11.54 COL1A1 COL1A2
7 11.51 COL1A1 COL1A2
8 11.48 COL1A1 COL1A2
9 11.26 COL1A1 COL1A2
10 11.22 COL1A1 COL1A2
11 11.11 COL1A1 COL1A2
12 10.92 COL1A1 COL1A2
13 10.85 COL1A1 COL1A2
14 10.47 COL1A1 COL1A2
15 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:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.43 BMP1 COL1A1 COL1A2
2 endoplasmic reticulum lumen GO:0005788 9.32 COL1A1 COL1A2
3 extracellular matrix GO:0031012 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 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.52 COL1A1 COL1A2
2 leukocyte migration GO:0050900 9.51 COL1A1 COL1A2
3 extracellular matrix organization GO:0030198 9.49 COL1A1 COL1A2
4 blood coagulation GO:0007596 9.48 COL1A1 COL1A2
5 platelet activation GO:0030168 9.46 COL1A1 COL1A2
6 ossification GO:0001503 9.43 BMP1 COL1A1
7 collagen catabolic process GO:0030574 9.4 COL1A1 COL1A2
8 blood vessel development GO:0001568 9.37 COL1A1 COL1A2
9 cellular response to amino acid stimulus GO:0071230 9.32 COL1A1 COL1A2
10 collagen fibril organization GO:0030199 9.26 COL1A1 COL1A2
11 protein heterotrimerization GO:0070208 9.16 COL1A1 COL1A2
12 skin morphogenesis GO:0043589 8.96 COL1A1 COL1A2
13 skeletal system development GO:0001501 8.8 BMP1 COL1A1 COL1A2

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 9.43 BMP1 COL1A1 COL1A2
2 protease binding GO:0002020 9.16 COL1A1 COL1A2
3 extracellular matrix structural constituent GO:0005201 8.96 COL1A1 COL1A2
4 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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