MCID: PRG091
MIFTS: 22

Progressively Deforming Osteogenesis Imperfecta malady

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Progressively Deforming Osteogenesis Imperfecta

Aliases & Descriptions for Progressively Deforming Osteogenesis Imperfecta:

Name: Progressively Deforming Osteogenesis Imperfecta 24
Osteogenesis Imperfecta Type Iii 24 69
Progressively Deforming Oi 24
Oi Type Iii 24

Classifications:



Summaries for Progressively Deforming Osteogenesis Imperfecta

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 Chain), and among its related pathways/superpathways are ECM-receptor interaction and Platelet activation.

Related Diseases for Progressively Deforming Osteogenesis Imperfecta

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

(show all 32)
id Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type iii 32.1 COL1A1 COL1A2
2 osteogenesis imperfecta 10.2
3 cngb3-related stargardt disease 1 10.0 COL1A1 COL1A2
4 isolated lissencephaly type 1 without known genetic defects 10.0 COL1A1 COL1A2
5 charcot-marie-tooth neuropathy type 2a 10.0 COL1A1 COL1A2
6 20p13 microdeletion syndrome 10.0 COL1A1 COL1A2
7 phyh-related refsum disease 10.0 COL1A1 COL1A2
8 epileptic encephalopathy, early infantile, 36 10.0 COL1A1 COL1A2
9 porphyria cutanea tarda 10.0 COL1A1 COL1A2
10 factor xiiia deficiency 10.0 COL1A1 COL1A2
11 human herpesvirus 8 10.0 COL1A1 COL1A2
12 long qt syndrome 1 9.9 COL1A1 COL1A2
13 muscle hypertrophy 9.9 COL1A1 COL1A2
14 diabetic neuropathy 9.9 COL1A1 COL1A2
15 ceroid lipofuscinosis, neuronal, 11 9.9 COL1A1 COL1A2
16 agraphia 9.9 COL1A1 COL1A2
17 neuropathy, distal hereditary motor, type iia 9.9 COL1A1 COL1A2
18 deafness, autosomal recessive 61 9.9 COL1A1 COL1A2
19 splenic flexure cancer 9.9 COL1A1 COL1A2
20 mental retardation, autosomal recessive 35 9.9 COL1A1 COL1A2
21 bone structure disease 9.9 COL1A1 COL1A2
22 herpes simplex 9.8 COL1A1 COL1A2
23 clivus meningioma 9.8 COL1A1 COL1A2
24 sclerocornea 9.8 COL1A1 COL1A2
25 prph2-related retinitis pigmentosa 9.7 COL1A1 COL1A2 SERPINF1
26 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 9.7 COL1A1 COL1A2 SERPINF1
27 autism susceptibility 16 9.7 COL1A1 COL1A2 SERPINF1
28 xanthinuria 9.7 COL1A1 COL1A2 SERPINF1
29 osteogenesis imperfecta, type ii 9.7 COL1A1 COL1A2 SERPINF1
30 ehlers-danlos syndrome, cardiac valvular form 9.7 COL1A1 COL1A2 SERPINF1
31 prostatocystitis 9.7 COL1A1 COL1A2 SERPINF1
32 tinea manuum 9.7 COL1A1 COL1A2

Graphical network of the top 20 diseases related to Progressively Deforming Osteogenesis Imperfecta:



Diseases related to Progressively Deforming Osteogenesis Imperfecta

Symptoms & Phenotypes for Progressively Deforming Osteogenesis Imperfecta

Drugs & Therapeutics for Progressively Deforming Osteogenesis Imperfecta

Search Clinical Trials , NIH Clinical Center for Progressively Deforming Osteogenesis Imperfecta

Genetic Tests for Progressively Deforming Osteogenesis Imperfecta

Genetic tests related to Progressively Deforming Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Progressively Deforming Osteogenesis Imperfecta 24 COL1A2

Anatomical Context for Progressively Deforming Osteogenesis Imperfecta

Publications for Progressively Deforming Osteogenesis Imperfecta

Articles related to Progressively Deforming Osteogenesis Imperfecta:

id Title Authors Year
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

ClinVar genetic disease variations for Progressively Deforming Osteogenesis Imperfecta:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 NM_000089.3(COL1A2): c.4001_4004delATAA (p.Asn1334Serfs) deletion Pathogenic rs72659345 GRCh37 Chromosome 7, 94059605: 94059608
2 COL1A2 NM_000089.3(COL1A2): c.775G> T (p.Gly259Cys) single nucleotide variant Pathogenic rs121912905 GRCh37 Chromosome 7, 94038118: 94038118
3 COL1A2 NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val) single nucleotide variant Pathogenic rs121912907 GRCh37 Chromosome 7, 94044575: 94044575
4 COL1A2 COL1A2, VAL255DEL deletion Pathogenic
5 COL1A2 NM_000089.3(COL1A2): c.2575G> A (p.Gly859Ser) single nucleotide variant Pathogenic rs72658200 GRCh37 Chromosome 7, 94053657: 94053657
6 COL1A2 NM_000089.3(COL1A2): c.3017G> C (p.Gly1006Ala) single nucleotide variant Pathogenic rs121912911 GRCh37 Chromosome 7, 94055754: 94055754
7 COL1A2 NM_000089.3(COL1A2): c.2251G> A (p.Gly751Ser) single nucleotide variant Pathogenic rs72658176 GRCh37 Chromosome 7, 94049916: 94049916
8 COL1A2 NM_000089.3(COL1A2): c.1099G> T (p.Gly367Trp) single nucleotide variant Pathogenic rs72656402 GRCh37 Chromosome 7, 94039741: 94039741
9 COL1A2 NM_000089.3(COL1A2): c.3269G> A (p.Gly1090Asp) single nucleotide variant Pathogenic rs267606742 GRCh37 Chromosome 7, 94056940: 94056940
10 COL1A2 NM_000089.3(COL1A2): c.3295G> A (p.Gly1099Arg) single nucleotide variant Pathogenic rs72659338 GRCh37 Chromosome 7, 94056966: 94056966
11 COL1A1 NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys) single nucleotide variant Pathogenic rs67368147 GRCh37 Chromosome 17, 48269166: 48269166
12 COL1A1 NM_000088.3(COL1A1): c.3064G> A (p.Gly1022Ser) single nucleotide variant Pathogenic rs66523073 GRCh37 Chromosome 17, 48266138: 48266138
13 COL1A1 COL1A1, EX22DEL deletion Pathogenic
14 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh37 Chromosome 17, 48273524: 48273524
15 COL1A1 NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Pathogenic rs67682641 GRCh37 Chromosome 17, 48271736: 48271736
16 COL1A1 NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser) single nucleotide variant Pathogenic rs72653178 GRCh37 Chromosome 17, 48265980: 48265980
17 COL1A1 NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser) single nucleotide variant Pathogenic rs72653131 GRCh37 Chromosome 17, 48267406: 48267406
18 COL1A1 NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro) single nucleotide variant Pathogenic rs72656353 GRCh37 Chromosome 17, 48262867: 48262867
19 COL1A1 COL1A1, 562-BP DEL deletion Pathogenic
20 COL1A1 NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu) single nucleotide variant Pathogenic rs72645320 GRCh37 Chromosome 17, 48274414: 48274414
21 COL1A2 NM_000089.3(COL1A2): c.1971+1G> A single nucleotide variant Pathogenic rs72658151 GRCh37 Chromosome 7, 94047144: 94047144
22 COL1A2 NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp) single nucleotide variant Pathogenic rs72658161 GRCh37 Chromosome 7, 94049564: 94049564
23 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
24 COL1A2 NM_000089.3(COL1A2): c.1550G> A (p.Gly517Asp) single nucleotide variant Pathogenic rs1057516053 GRCh37 Chromosome 7, 94042441: 94042441

Expression for Progressively Deforming Osteogenesis Imperfecta

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

Pathways for Progressively Deforming Osteogenesis Imperfecta

GO Terms for Progressively Deforming Osteogenesis Imperfecta

Cellular components related to Progressively Deforming Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.43 COL1A1 COL1A2 SERPINF1
2 endoplasmic reticulum lumen GO:0005788 9.32 COL1A1 COL1A2
3 collagen trimer GO:0005581 9.16 COL1A1 COL1A2
4 extracellular matrix GO:0031012 9.13 COL1A1 COL1A2 SERPINF1
5 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

Biological processes related to Progressively Deforming Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.52 COL1A1 COL1A2
2 extracellular matrix organization GO:0030198 9.51 COL1A1 COL1A2
3 regulation of immune response GO:0050776 9.49 COL1A1 COL1A2
4 blood coagulation GO:0007596 9.48 COL1A1 COL1A2
5 skeletal system development GO:0001501 9.46 COL1A1 COL1A2
6 platelet activation GO:0030168 9.43 COL1A1 COL1A2
7 cellular response to retinoic acid GO:0071300 9.4 COL1A1 SERPINF1
8 collagen catabolic process GO:0030574 9.37 COL1A1 COL1A2
9 cellular response to amino acid stimulus GO:0071230 9.32 COL1A1 COL1A2
10 blood vessel development GO:0001568 9.26 COL1A1 COL1A2
11 collagen fibril organization GO:0030199 9.16 COL1A1 COL1A2
12 protein heterotrimerization GO:0070208 8.96 COL1A1 COL1A2
13 skin morphogenesis GO:0043589 8.62 COL1A1 COL1A2

Molecular functions related to Progressively Deforming 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 Progressively Deforming 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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