MCID: FBR010
MIFTS: 25

Fibrogenesis Imperfecta Ossium

Categories: Bone diseases
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Aliases & Classifications for Fibrogenesis Imperfecta Ossium

MalaCards integrated aliases for Fibrogenesis Imperfecta Ossium:

Name: Fibrogenesis Imperfecta Ossium 11 14
Baker's Disease 11

Classifications:



External Ids:

Disease Ontology 11 DOID:0080040

Summaries for Fibrogenesis Imperfecta Ossium

Disease Ontology: 11 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 bone disease 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 Collagen chain trimerization and Ion channel transport. Affiliated tissues include bone, and related phenotypes are limbs/digits/tail and growth/size/body region

Related Diseases for Fibrogenesis Imperfecta Ossium

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 bone disease 30.2 OSTM1 COL1A1 CLCN7
2 axial osteomalacia 29.5 TCIRG1 OSTM1 LEMD3 CLCN7
3 endosteal hyperostosis, autosomal dominant 28.6 TCIRG1 OSTM1 LEMD3 CRTAP COL1A2 COL1A1
4 osteomalacia 10.6
5 mammary paget's disease 10.2
6 macroglobulinemia 10.2
7 amyloidosis 10.2
8 lathyrism 10.2
9 osteogenesis imperfecta, type viii 10.1 P3H1 CRTAP
10 osteogenesis imperfecta, type xix 10.1 P3H1 CRTAP
11 osteogenesis imperfecta, type ix 10.1 P3H1 CRTAP
12 osteopoikilosis 10.0 OSTM1 LEMD3
13 keratosis follicularis spinulosa decalvans 10.0 P3H1 CRTAP
14 osteogenesis imperfecta, type v 10.0 COL1A2 COL1A1
15 osteogenesis imperfecta, type vi 10.0 COL1A2 COL1A1
16 melorheostosis 9.9 LEMD3 CLCN7
17 ehlers-danlos/osteogenesis imperfecta syndrome 9.9 COL1A2 COL1A1
18 high bone mass osteogenesis imperfecta 9.9 COL1A2 COL1A1
19 myositis ossificans 9.9 LEMD3 COL1A1
20 breast scirrhous carcinoma 9.9 COL1A2 COL1A1
21 ehlers-danlos syndrome, arthrochalasia type, 1 9.9 COL1A2 COL1A1
22 scleroderma, familial progressive 9.9 COL1A2 COL1A1
23 primary bone dysplasia 9.9 COL1A2 COL1A1
24 hypermobility syndrome 9.9 COL1A2 COL1A1
25 syndromic x-linked intellectual disability cabezas type 9.9 COL1A2 COL1A1
26 classic ehlers-danlos syndrome 9.9 COL1A2 COL1A1
27 osteogenesis imperfecta, type xiv 9.9 P3H1 CRTAP COL1A2
28 x-linked alport syndrome 9.9 COL1A2 COL1A1
29 cole-carpenter syndrome 9.9 P3H1 CRTAP COL1A2
30 localized scleroderma 9.8 COL1A2 COL1A1
31 amebiasis 9.8 COL1A2 COL1A1
32 autosomal recessive malignant osteopetrosis 9.8 TCIRG1 CLCN7
33 osteopetrosis, autosomal recessive 1 9.8 TCIRG1 CLCN7
34 osteogenesis imperfecta, type vii 9.8 P3H1 CRTAP COL1A1
35 osteopetrosis, autosomal recessive 8 9.8 TCIRG1 CLCN7
36 osteopetrosis, autosomal recessive 7 9.8 TCIRG1 CLCN7
37 spinal stenosis 9.8 COL1A2 COL1A1
38 osteopetrosis, autosomal recessive 6 9.8 TCIRG1 CLCN7
39 osteogenesis imperfecta, type xi 9.8 CRTAP COL1A2 COL1A1
40 oral submucous fibrosis 9.8 COL1A2 COL1A1
41 ehlers-danlos syndrome, arthrochalasia type, 2 9.8 CRTAP COL1A2 COL1A1
42 collagen disease 9.7 COL1A2 COL1A1
43 osteopetrosis, autosomal recessive 5 9.7 TCIRG1 OSTM1 CLCN7
44 osteopetrosis 9.7 TCIRG1 OSTM1 CLCN7
45 pelvic organ prolapse 9.7 COL1A2 COL1A1
46 osteopetrosis, autosomal recessive 4 9.7 TCIRG1 OSTM1 CLCN7
47 osteopetrosis, autosomal recessive 2 9.7 TCIRG1 OSTM1 CLCN7
48 osteopetrosis, autosomal dominant 2 9.7 TCIRG1 OSTM1 CLCN7
49 osteopetrosis, autosomal recessive 3 9.7 TCIRG1 OSTM1 CLCN7
50 pycnodysostosis 9.7 TCIRG1 OSTM1 CLCN7

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



Diseases related to Fibrogenesis Imperfecta Ossium

Symptoms & Phenotypes for Fibrogenesis Imperfecta Ossium

MGI Mouse Phenotypes related to Fibrogenesis Imperfecta Ossium:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.63 CLCN7 COL1A1 COL1A2 OSTM1 P3H1 TCIRG1
2 growth/size/body region MP:0005378 9.56 ADGRG7 CLCN7 COL1A1 COL1A2 CRTAP OSTM1
3 skeleton MP:0005390 9.17 CLCN7 COL1A1 COL1A2 CRTAP OSTM1 P3H1

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

Organs/tissues related to Fibrogenesis Imperfecta Ossium:

MalaCards : Bone

Publications for Fibrogenesis Imperfecta Ossium

Articles related to Fibrogenesis Imperfecta Ossium:

(show all 28)
# Title Authors PMID Year
1
Fibrogenesis imperfecta ossium: an acquired incapacitating bone disease. 62
33763797 2021
2
Fibrogenesis Imperfecta Ossium. 62
31069441 2019
3
Fibrogenesis Imperfecta Ossium: Clinical Approach to Diagnosis and Management of a Rare Skeletal Disorder. 62
30869792 2019
4
Fibrogenesis Imperfecta Ossium and Response to Human Growth Hormone: A Potential Therapy. 62
28323922 2017
5
Clinical, cellular, microscopic, and ultrastructural studies of a case of fibrogenesis imperfecta ossium. 62
28326223 2017
6
Report on a case of fibrogenesis imperfecta ossium and a possible new treatment option. 62
24647887 2014
7
Radiographic findings in Waldenström's macroglobulinemia resembling fibrogenesis imperfecta ossium (FIO): a case report. 62
24072255 2014
8
[Asthma and baker's allergy: experience with health programs]. 62
21425628 2011
9
Fibrogenesis imperfecta ossium: MR imaging of the axial and appendicular skeleton and correlation with a unique radiographic appearance. 62
17618434 2007
10
Fibrogenesis imperfecta ossium (Baker's disease): a case studied at autopsy. 62
11113399 2000
11
Fibrogenesis imperfecta ossium: imaging correlation in three new patients. 62
10478620 1999
12
Fibrogenesis imperfecta ossium: ineffectiveness of melphalan. 62
8781045 1996
13
Fibrogenesis imperfecta ossium. 62
7559718 1995
14
Ultrastructural features of the osteoid of patients with fibrogenesis imperfecta ossium. 62
2803859 1989
15
Fibrogenesis imperfecta ossium with early onset: observations after 20 years of illness. 62
3490268 1986
16
Fibrogenesis imperfecta ossium: remission with melphalan. 62
2857933 1985
17
Fibrogenesis imperfecta ossium. 62
6466951 1984
18
Fibrogenesis imperfecta ossium (clinical, biochemical and ultrastructural investigations). 62
7347735 1981
19
[Axial osteomalacia. Comparative analysis with fibrogenesis imperfecta ossium (author's transl)]. 62
7205749 1981
20
Fibrogenesis imperfecta ossium. 62
1085005 1976
21
Alaskan malamute chondrodysplasia. I. Bone composition studies. 62
1261875 1976
22
[Fibrogenesis imperfecta ossium. Study of 2 cases in the same family]. 62
1217766 1975
23
Fibrogenesis imperfecta ossium. A collagen defect causing osteomalacia. 62
5567261 1971
24
Unusual bone trabeculation in a patient with macroglobulinaemia simulating fibrogenesis imperfecta ossium. 62
4994677 1971
25
Hematologic abnormalities in fibrogenesis imperfecta ossium. 62
5546711 1971
26
Fibrogenesis imperfecta ossium. 62
5954373 1966
27
Fibrogenesis imperfecta ossium; a generalised disease of bone characterised by defective formation of the collagen fibres of the bone matrix. 62
13295341 1956
28
On the morbid picture of baker's disease and its pathogenesis. 62
18868016 1948

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:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 P3H1 CRTAP COL1A2 COL1A1
2
Show member pathways
12.16 TCIRG1 OSTM1 CLCN7
3
Show member pathways
12.1 P3H1 CRTAP COL1A2 COL1A1
4
Show member pathways
11.46 COL1A2 COL1A1
5 11.45 COL1A2 COL1A1
6 11.35 COL1A2 COL1A1
7 11.34 COL1A2 COL1A1
8 11.3 COL1A2 COL1A1
9 11.26 COL1A2 COL1A1
10 11.23 COL1A2 COL1A1
11 11.09 COL1A2 COL1A1
12 11.07 COL1A2 COL1A1
13 10.98 COL1A2 COL1A1
14 10.91 COL1A1 COL1A2
15 10.85 COL1A2 COL1A1
16
Show member pathways
10.8 COL1A2 COL1A1
17 10.7 COL1A2 COL1A1
18 10.44 P3H1 CRTAP COL1A2 COL1A1
19 10.17 TCIRG1 OSTM1 CLCN7

GO Terms for Fibrogenesis Imperfecta Ossium

Cellular components related to Fibrogenesis Imperfecta Ossium according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.56 P3H1 CRTAP COL1A2 COL1A1
2 collagen type I trimer GO:0005584 8.92 COL1A2 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 skin morphogenesis GO:0043589 9.67 COL1A2 COL1A1
2 collagen metabolic process GO:0032963 9.62 P3H1 COL1A2
3 odontogenesis GO:0042476 9.58 TCIRG1 COL1A2
4 transepithelial chloride transport GO:0030321 9.56 OSTM1 CLCN7
5 tooth eruption GO:0044691 9.46 TCIRG1 COL1A1
6 collagen fibril organization GO:0030199 9.43 CRTAP COL1A2 COL1A1
7 negative regulation of post-translational protein modification GO:1901874 8.92 P3H1 CRTAP

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

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 8.92 COL1A2 COL1A1

Sources for Fibrogenesis Imperfecta Ossium

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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