MCID: CL1004
MIFTS: 10

Col1a1/2-Related Osteogenesis Imperfecta

Categories: Bone diseases

Aliases & Classifications for Col1a1/2-Related Osteogenesis Imperfecta

MalaCards integrated aliases for Col1a1/2-Related Osteogenesis Imperfecta:

Name: Col1a1/2-Related Osteogenesis Imperfecta 23
Osteogenesis Imperfecta 69
Brittle Bone Disease 23
Oi 23

Characteristics:

GeneReviews:

23
Penetrance The penetrance in individuals heterozygous for a col1a1 or col1a2 pathogenic variant is 100%, although expression may vary considerably, even in the same family...

Classifications:



Summaries for Col1a1/2-Related Osteogenesis Imperfecta

MalaCards based summary : Col1a1/2-Related Osteogenesis Imperfecta, also known as osteogenesis imperfecta, is related to brittle bone disorder, and has symptoms including sciatica, muscle cramp and back pain. Affiliated tissues include bone.

GeneReviews: NBK1295

Related Diseases for Col1a1/2-Related Osteogenesis Imperfecta

Diseases related to Col1a1/2-Related Osteogenesis Imperfecta via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brittle bone disorder 10.2

Symptoms & Phenotypes for Col1a1/2-Related Osteogenesis Imperfecta

UMLS symptoms related to Col1a1/2-Related Osteogenesis Imperfecta:


sciatica, muscle cramp, back pain

Drugs & Therapeutics for Col1a1/2-Related Osteogenesis Imperfecta

Search Clinical Trials , NIH Clinical Center for Col1a1/2-Related Osteogenesis Imperfecta

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Col1a1/2-Related Osteogenesis Imperfecta

Anatomical Context for Col1a1/2-Related Osteogenesis Imperfecta

MalaCards organs/tissues related to Col1a1/2-Related Osteogenesis Imperfecta:

38
Bone

Publications for Col1a1/2-Related Osteogenesis Imperfecta

Articles related to Col1a1/2-Related Osteogenesis Imperfecta:

# Title Authors Year
1
COL1A1/2-Related Osteogenesis Imperfecta ( 20301472 )
1993

Variations for Col1a1/2-Related Osteogenesis Imperfecta

Expression for Col1a1/2-Related Osteogenesis Imperfecta

Search GEO for disease gene expression data for Col1a1/2-Related Osteogenesis Imperfecta.

Pathways for Col1a1/2-Related Osteogenesis Imperfecta

GO Terms for Col1a1/2-Related Osteogenesis Imperfecta

Sources for Col1a1/2-Related Osteogenesis Imperfecta

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