MCID: FBR010
MIFTS: 25

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

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 59)
# Related Disease Score Top Affiliating Genes
1 bone disease 29.9 OSTM1 CRTAP COL1A1 CLCN7
2 axial osteomalacia 29.5 TCIRG1 OSTM1 LEMD3 CLCN7
3 osteomalacia 10.6
4 mammary paget's disease 10.2
5 macroglobulinemia 10.2
6 lathyrism 10.2
7 osteogenesis imperfecta, type viii 10.1 P3H1 CRTAP
8 boomerang dysplasia 10.1 P3H1 CRTAP
9 spondylocarpotarsal synostosis syndrome 10.0 P3H1 CRTAP
10 mucopolysaccharidosis iv 10.0 P3H1 CRTAP
11 osteogenesis imperfecta, type v 10.0 COL1A2 COL1A1
12 cole-carpenter syndrome 10.0 CRTAP COL1A2
13 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A2 COL1A1
14 col1a1/2 osteogenesis imperfecta 10.0 COL1A2 COL1A1
15 high bone mass osteogenesis imperfecta 10.0 COL1A2 COL1A1
16 arthrochalasia ehlers-danlos syndrome 10.0 COL1A2 COL1A1
17 larsen-like syndrome 10.0 COL1A2 COL1A1
18 ehlers-danlos syndrome, arthrochalasia type, 2 9.9 COL1A2 COL1A1
19 scleroderma, familial progressive 9.9 COL1A2 COL1A1
20 diffuse scleroderma 9.9 COL1A2 COL1A1
21 syndromic x-linked intellectual disability cabezas type 9.9 COL1A2 COL1A1
22 ehlers-danlos syndrome, cardiac valvular type 9.9 COL1A2 COL1A1
23 classic ehlers-danlos syndrome 9.9 COL1A2 COL1A1
24 x-linked alport syndrome 9.9 COL1A2 COL1A1
25 caffey disease 9.9 COL1A2 COL1A1
26 osteoporosis, juvenile 9.9 COL1A2 COL1A1
27 spinal stenosis 9.8 COL1A2 COL1A1
28 osteopetrosis, autosomal recessive 1 9.8 TCIRG1 CLCN7
29 craniodiaphyseal dysplasia 9.8 TCIRG1 CLCN7
30 oral submucous fibrosis 9.8 COL1A2 COL1A1
31 osteopetrosis, autosomal dominant 2 9.8 TCIRG1 CLCN7
32 osteopetrosis, autosomal recessive 4 9.8 TCIRG1 CLCN7
33 autosomal recessive malignant osteopetrosis 9.8 TCIRG1 CLCN7
34 osteogenesis imperfecta, type i 9.8 CRTAP COL1A2 COL1A1
35 osteopetrosis, autosomal recessive 7 9.8 TCIRG1 CLCN7
36 collagen disease 9.8 COL1A2 COL1A1
37 osteopetrosis, autosomal recessive 6 9.8 TCIRG1 CLCN7
38 pelvic organ prolapse 9.7 COL1A2 COL1A1
39 bone structure disease 9.7 COL1A2 COL1A1
40 osteopetrosis, autosomal recessive 2 9.7 TCIRG1 OSTM1 CLCN7
41 osteopetrosis 9.7 TCIRG1 OSTM1 CLCN7
42 osteopetrosis, autosomal recessive 5 9.7 TCIRG1 OSTM1 CLCN7
43 osteopetrosis, autosomal recessive 8 9.7 TCIRG1 OSTM1 CLCN7
44 osteopetrosis, autosomal recessive 3 9.7 TCIRG1 OSTM1 CLCN7
45 pycnodysostosis 9.7 TCIRG1 OSTM1 CLCN7
46 craniometaphyseal dysplasia, autosomal dominant 9.7 TCIRG1 OSTM1 CLCN7
47 ehlers-danlos syndrome, classic type, 1 9.6 COL1A2 COL1A1
48 osteogenesis imperfecta, type vii 9.6 P3H1 CRTAP COL1A2 COL1A1
49 bruck syndrome 9.6 P3H1 CRTAP COL1A2 COL1A1
50 osteogenesis imperfecta, type ii 9.6 P3H1 CRTAP COL1A2 COL1A1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 ADGRG7 CLCN7 COL1A1 COL1A2 CRTAP OSTM1
2 limbs/digits/tail MP:0005371 9.43 CLCN7 COL1A1 COL1A2 OSTM1 P3H1 TCIRG1
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

MalaCards organs/tissues related to Fibrogenesis Imperfecta Ossium:

40
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. 61
33763797 2021
2
Fibrogenesis Imperfecta Ossium. 61
31069441 2019
3
Fibrogenesis Imperfecta Ossium: Clinical Approach to Diagnosis and Management of a Rare Skeletal Disorder. 61
30869792 2019
4
Fibrogenesis Imperfecta Ossium and Response to Human Growth Hormone: A Potential Therapy. 61
28323922 2017
5
Clinical, cellular, microscopic, and ultrastructural studies of a case of fibrogenesis imperfecta ossium. 61
28326223 2017
6
Report on a case of fibrogenesis imperfecta ossium and a possible new treatment option. 61
24647887 2014
7
Radiographic findings in Waldenström's macroglobulinemia resembling fibrogenesis imperfecta ossium (FIO): a case report. 61
24072255 2014
8
[Asthma and baker's allergy: experience with health programs]. 61
21425628 2011
9
Fibrogenesis imperfecta ossium: MR imaging of the axial and appendicular skeleton and correlation with a unique radiographic appearance. 61
17618434 2007
10
Fibrogenesis imperfecta ossium (Baker's disease): a case studied at autopsy. 61
11113399 2000
11
Fibrogenesis imperfecta ossium: imaging correlation in three new patients. 61
10478620 1999
12
Fibrogenesis imperfecta ossium: ineffectiveness of melphalan. 61
8781045 1996
13
Fibrogenesis imperfecta ossium. 61
7559718 1995
14
Ultrastructural features of the osteoid of patients with fibrogenesis imperfecta ossium. 61
2803859 1989
15
Fibrogenesis imperfecta ossium with early onset: observations after 20 years of illness. 61
3490268 1986
16
Fibrogenesis imperfecta ossium: remission with melphalan. 61
2857933 1985
17
Fibrogenesis imperfecta ossium. 61
6466951 1984
18
Fibrogenesis imperfecta ossium (clinical, biochemical and ultrastructural investigations). 61
7347735 1981
19
[Axial osteomalacia. Comparative analysis with fibrogenesis imperfecta ossium (author's transl)]. 61
7205749 1981
20
Fibrogenesis imperfecta ossium. 61
1085005 1976
21
Alaskan malamute chondrodysplasia. I. Bone composition studies. 61
1261875 1976
22
[Fibrogenesis imperfecta ossium. Study of 2 cases in the same family]. 61
1217766 1975
23
Fibrogenesis imperfecta ossium. A collagen defect causing osteomalacia. 61
5567261 1971
24
Unusual bone trabeculation in a patient with macroglobulinaemia simulating fibrogenesis imperfecta ossium. 61
4994677 1971
25
Hematologic abnormalities in fibrogenesis imperfecta ossium. 61
5546711 1971
26
Fibrogenesis imperfecta ossium. 61
5954373 1966
27
Fibrogenesis imperfecta ossium; a generalised disease of bone characterised by defective formation of the collagen fibres of the bone matrix. 61
13295341 1956
28
On the morbid picture of baker's disease and its pathogenesis. 61
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

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 collagen-containing extracellular matrix GO:0062023 9.43 P3H1 COL1A2 COL1A1
2 lysosomal membrane GO:0005765 9.33 TCIRG1 OSTM1 CLCN7
3 endoplasmic reticulum lumen GO:0005788 9.26 P3H1 CRTAP COL1A2 COL1A1
4 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.63 TCIRG1 OSTM1 CLCN7
2 blood vessel development GO:0001568 9.49 COL1A2 COL1A1
3 cellular response to amino acid stimulus GO:0071230 9.48 COL1A2 COL1A1
4 odontogenesis GO:0042476 9.43 TCIRG1 COL1A2
5 osteoclast differentiation GO:0030316 9.4 TCIRG1 OSTM1
6 chaperone-mediated protein folding GO:0061077 9.37 P3H1 CRTAP
7 collagen metabolic process GO:0032963 9.32 P3H1 COL1A2
8 skin morphogenesis GO:0043589 9.26 COL1A2 COL1A1
9 tooth eruption GO:0044691 9.16 TCIRG1 COL1A1
10 collagen fibril organization GO:0030199 9.13 CRTAP COL1A2 COL1A1
11 negative regulation of post-translational protein modification GO:1901874 8.62 P3H1 CRTAP

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

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.16 P3H1 CRTAP
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A2 COL1A1
3 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1

Sources for Fibrogenesis Imperfecta Ossium

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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