MCID: FBR010
MIFTS: 24

Fibrogenesis Imperfecta Ossium

Categories: Bone diseases

Aliases & Classifications for Fibrogenesis Imperfecta Ossium

MalaCards integrated aliases for Fibrogenesis Imperfecta Ossium:

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

Classifications:



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, kidney and thyroid.

Related Diseases for Fibrogenesis Imperfecta Ossium

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 osteomalacia 30.4 CALCA PTH
2 axial osteomalacia 10.3
3 macroglobulinemia 10.3
4 impaired renal function disease 10.0 AQP1 PTH
5 ischemic bone disease 10.0 PTH TNFRSF11B
6 hypercalcemia, infantile, 1 9.9 CALCA PTH
7 osteitis fibrosa 9.9 CALCA PTH
8 hypophosphatasia, adult 9.9 CALCA PTH
9 cloacogenic carcinoma 9.9 CALCA PTH
10 osteoporosis, juvenile 9.9 CALCA PTH
11 osteonecrosis 9.9 PTH TNFRSF11B
12 metaphyseal chondrodysplasia, jansen type 9.9 CALCA PTH
13 parathyroid gland disease 9.9 CALCA PTH
14 thyroid gland disease 9.9 CALCA PTH
15 paget disease of bone 5, juvenile-onset 9.9 CALCA TNFRSF11B
16 multiple endocrine neoplasia, type iia 9.9 CALCA PTH
17 mineral metabolism disease 9.9 CALCA PTH
18 parathyroid carcinoma 9.9 CALCA PTH
19 endocrine organ benign neoplasm 9.9 CALCA PTH
20 root resorption 9.9 CALCA TNFRSF11B
21 hypocalcemia, autosomal dominant 1 9.9 CALCA PTH
22 uremia 9.8 PTH TNFRSF11B
23 parathyroid adenoma 9.8 CALCA PTH
24 giant cell tumor 9.8 CALCA TNFRSF11B
25 glucocorticoid-induced osteoporosis 9.7 CALCA PTH TNFRSF11B
26 osteoporosis 9.7 CALCA PTH TNFRSF11B
27 secondary hyperparathyroidism of renal origin 9.7 CALCA PTH TNFRSF11B
28 hyperparathyroidism 9.7 CALCA PTH TNFRSF11B
29 renal osteodystrophy 9.7 CALCA PTH TNFRSF11B
30 bone resorption disease 9.7 CALCA PTH TNFRSF11B
31 bone remodeling disease 9.7 CALCA PTH TNFRSF11B
32 paget's disease of bone 9.7 CALCA PTH TNFRSF11B
33 chronic kidney failure 9.7 CALCA PTH TNFRSF11B
34 bone disease 9.7 CALCA PTH TNFRSF11B
35 primary hyperparathyroidism 9.7 CALCA PTH

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, Kidney, Thyroid

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 9.37 PTH TNFRSF11B
3 response to drug GO:0042493 9.33 AQP1 PTH TNFRSF11B
4 cellular calcium ion homeostasis GO:0006874 9.32 CALCA PTH
5 negative regulation of bone resorption GO:0045779 8.96 CALCA TNFRSF11B
6 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 8.8 ADGRG7 CALCA PTH

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
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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