MCID: FBR010
MIFTS: 21

Fibrogenesis Imperfecta Ossium

Aliases & Classifications for Fibrogenesis Imperfecta Ossium

MalaCards integrated aliases for Fibrogenesis Imperfecta Ossium:

Name: Fibrogenesis Imperfecta Ossium 12 15
Baker's Disease 12

External Ids:

Disease Ontology 12 DOID:0080040

Summaries for Fibrogenesis Imperfecta Ossium

Disease Ontology : 12 A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.

MalaCards based summary : Fibrogenesis Imperfecta Ossium, also known as baker's disease, is related to osteomalacia and axial osteomalacia. An important gene associated with Fibrogenesis Imperfecta Ossium is ADGRG7 (Adhesion G Protein-Coupled Receptor G7), and among its related pathways/superpathways are G alpha (s) signalling events and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include bone.

Related Diseases for Fibrogenesis Imperfecta Ossium

Diseases related to Fibrogenesis Imperfecta Ossium via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 osteomalacia 10.3
2 axial osteomalacia 10.2
3 macroglobulinemia 10.2
4 impaired renal function disease 10.1 AQP1 PTH
5 ischemic bone disease 9.9 PTH TNFRSF11B
6 osteonecrosis 9.8 PTH TNFRSF11B
7 hypercalcemia, infantile, 1 9.7 CALCA PTH
8 osteitis fibrosa 9.7 CALCA PTH
9 hypophosphatasia, adult 9.7 CALCA PTH
10 cloacogenic carcinoma 9.7 CALCA PTH
11 metaphyseal chondrodysplasia, jansen type 9.7 CALCA PTH
12 parathyroid gland disease 9.7 CALCA PTH
13 paget disease of bone 5, juvenile-onset 9.6 CALCA TNFRSF11B
14 multiple endocrine neoplasia, type iia 9.6 CALCA PTH
15 mineral metabolism disease 9.6 CALCA PTH
16 parathyroid carcinoma 9.6 CALCA PTH
17 thyroid gland disease 9.6 CALCA PTH
18 root resorption 9.5 CALCA TNFRSF11B
19 parathyroid adenoma 9.5 CALCA PTH
20 uremia 9.5 PTH TNFRSF11B
21 giant cell tumor 9.2 CALCA TNFRSF11B
22 glucocorticoid-induced osteoporosis 9.1 CALCA PTH TNFRSF11B
23 secondary hyperparathyroidism of renal origin 9.1 CALCA PTH TNFRSF11B
24 renal osteodystrophy 9.1 CALCA PTH TNFRSF11B
25 bone resorption disease 9.1 CALCA PTH TNFRSF11B
26 bone remodeling disease 9.0 CALCA PTH TNFRSF11B
27 paget's disease of bone 9.0 CALCA PTH TNFRSF11B
28 hyperparathyroidism 9.0 CALCA PTH TNFRSF11B
29 chronic kidney failure 9.0 CALCA PTH TNFRSF11B
30 bone disease 9.0 CALCA PTH TNFRSF11B
31 primary hyperparathyroidism 9.0 CALCA PTH
32 osteoporosis 8.7 CALCA PTH TNFRSF11B

Graphical network of the top 20 diseases related to Fibrogenesis Imperfecta Ossium:



Diseases related to Fibrogenesis Imperfecta Ossium

Symptoms & Phenotypes for Fibrogenesis Imperfecta Ossium

Drugs & Therapeutics for Fibrogenesis Imperfecta Ossium

Search Clinical Trials , NIH Clinical Center for Fibrogenesis Imperfecta Ossium

Genetic Tests for Fibrogenesis Imperfecta Ossium

Anatomical Context for Fibrogenesis Imperfecta Ossium

MalaCards organs/tissues related to Fibrogenesis Imperfecta Ossium:

41
Bone

Publications for Fibrogenesis Imperfecta Ossium

Articles related to Fibrogenesis Imperfecta Ossium:

(show all 21)
# Title Authors Year
1
Fibrogenesis Imperfecta Ossium and Response to Human Growth Hormone: A Potential Therapy. ( 28323922 )
2017
2
Clinical, cellular, microscopic, and ultrastructural studies of a case of fibrogenesis imperfecta ossium. ( 28326223 )
2017
3
Report on a case of fibrogenesis imperfecta ossium and a possible new treatment option. ( 24647887 )
2014
4
Radiographic findings in WaldenstrAPm's macroglobulinemia resembling fibrogenesis imperfecta ossium (FIO): A case report. ( 24072255 )
2013
5
Fibrogenesis imperfecta ossium: MR imaging of the axial and appendicular skeleton and correlation with a unique radiographic appearance. ( 17618434 )
2007
6
Fibrogenesis imperfecta ossium (Baker's disease): a case studied at autopsy. ( 11113399 )
2000
7
Fibrogenesis imperfecta ossium: imaging correlation in three new patients. ( 10478620 )
1999
8
Fibrogenesis imperfecta ossium: ineffectiveness of melphalan. ( 8781045 )
1996
9
Fibrogenesis imperfecta ossium. ( 7559718 )
1995
10
Ultrastructural features of the osteoid of patients with fibrogenesis imperfecta ossium. ( 2803859 )
1989
11
Fibrogenesis imperfecta ossium with early onset: observations after 20 years of illness. ( 3490268 )
1986
12
Fibrogenesis imperfecta ossium: remission with melphalan. ( 2857933 )
1985
13
Fibrogenesis imperfecta ossium. ( 6466951 )
1984
14
[Axial osteomalacia. Comparative analysis with fibrogenesis imperfecta ossium (author's transl)]. ( 7205749 )
1981
15
Fibrogenesis imperfecta ossium (clinical, biochemical and ultrastructural investigations). ( 7347735 )
1981
16
Fibrogenesis imperfecta ossium. ( 1085005 )
1976
17
Unusual bone trabeculation in a patient with macroglobulinaemia simulating fibrogenesis imperfecta ossium. ( 4994677 )
1971
18
Fibrogenesis imperfecta ossium. A collagen defect causing osteomalacia. ( 5567261 )
1971
19
Hematologic abnormalities in fibrogenesis imperfecta ossium. ( 5546711 )
1971
20
Fibrogenesis imperfecta ossium. ( 5954373 )
1966
21
Fibrogenesis imperfecta ossium; a generalised disease of bone characterised by defective formation of the collagen fibres of the bone matrix. ( 13295341 )
1956

Variations for Fibrogenesis Imperfecta Ossium

Expression for Fibrogenesis Imperfecta Ossium

Search GEO for disease gene expression data for Fibrogenesis Imperfecta Ossium.

Pathways for Fibrogenesis Imperfecta Ossium

Pathways related to Fibrogenesis Imperfecta Ossium according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.32 CALCA PTH
2 10.45 CALCA PTH TNFRSF11B
3 10.1 PTH TNFRSF11B

GO Terms for Fibrogenesis Imperfecta Ossium

Biological processes related to Fibrogenesis Imperfecta Ossium according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.43 CALCA PTH TNFRSF11B
2 skeletal system development GO:0001501 9.4 PTH TNFRSF11B
3 cellular calcium ion homeostasis GO:0006874 9.37 CALCA PTH
4 response to drug GO:0042493 9.33 AQP1 PTH TNFRSF11B
5 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.32 CALCA PTH
6 positive regulation of ossification GO:0045778 8.96 CALCA PTH
7 negative regulation of bone resorption GO:0045779 8.62 CALCA TNFRSF11B

Molecular functions related to Fibrogenesis Imperfecta Ossium according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 CALCA PTH

Sources for Fibrogenesis Imperfecta Ossium

3 CDC
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11 DGIdb
17 ExPASy
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28 GO
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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51 NDF-RT
54 NINDS
55 Novoseek
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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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