MCID: PRG091
MIFTS: 16

Progressively Deforming Osteogenesis Imperfecta malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Progressively Deforming Osteogenesis Imperfecta

About this section

Aliases & Descriptions for Progressively Deforming Osteogenesis Imperfecta:

Name: Progressively Deforming Osteogenesis Imperfecta 22
Osteogenesis Imperfecta Type Iii 22 65
 
Progressively Deforming Oi 22
Oi Type Iii 22

Classifications:



External Ids:

UMLS65 C0268362

Summaries for Progressively Deforming Osteogenesis Imperfecta

About this section
MalaCards based summary: Progressively Deforming Osteogenesis Imperfecta, also known as osteogenesis imperfecta type iii, is related to osteogenesis imperfecta, type iii and osteogenesis imperfecta. An important gene associated with Progressively Deforming Osteogenesis Imperfecta is COL1A2 (Collagen Type I Alpha 2). Affiliated tissues include bone and eye.

Related Diseases for Progressively Deforming Osteogenesis Imperfecta

About this section

Diseases related to Progressively Deforming Osteogenesis Imperfecta via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iii31.5COL1A2, SERPINF1
2osteogenesis imperfecta10.3
3prok2-related isolated gonadotropin-releasing hormone deficiency9.6COL1A2, SERPINF1
4osteogenesis imperfecta, type ii9.5COL1A2, SERPINF1
5primary eye hypotony9.5COL1A2, SERPINF1
6branchiootic syndrome9.3COL1A2, SERPINF1

Graphical network of diseases related to Progressively Deforming Osteogenesis Imperfecta:



Diseases related to progressively deforming osteogenesis imperfecta

Symptoms for Progressively Deforming Osteogenesis Imperfecta

About this section

Drugs & Therapeutics for Progressively Deforming Osteogenesis Imperfecta

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Progressively Deforming Osteogenesis Imperfecta

Genetic Tests for Progressively Deforming Osteogenesis Imperfecta

About this section

Genetic tests related to Progressively Deforming Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Progressively Deforming Osteogenesis Imperfecta22 COL1A2

Anatomical Context for Progressively Deforming Osteogenesis Imperfecta

About this section

MalaCards organs/tissues related to Progressively Deforming Osteogenesis Imperfecta:

33
Bone, Eye

Animal Models for Progressively Deforming Osteogenesis Imperfecta or affiliated genes

About this section

Publications for Progressively Deforming Osteogenesis Imperfecta

About this section

Articles related to Progressively Deforming Osteogenesis Imperfecta:

idTitleAuthorsYear
1
Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen. (22113968)
2012
2
Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: a case of autosomal dominant transmission. (1788177)
1991
3
Genetic counselling in perinatally lethal and severe progressively deforming osteogenesis imperfecta. (3214049)
1988

Variations for Progressively Deforming Osteogenesis Imperfecta

About this section

Expression for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

About this section
Search GEO for disease gene expression data for Progressively Deforming Osteogenesis Imperfecta.

Pathways for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

About this section

GO Terms for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

About this section

Sources for Progressively Deforming Osteogenesis Imperfecta

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet