Fibrogenesis Imperfecta Ossium disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Fibrogenesis Imperfecta Ossium

MalaCards integrated aliases for Fibrogenesis Imperfecta Ossium:

Name: Fibrogenesis Imperfecta Ossium ¹² ¹⁵

Baker's Disease ¹²

Classifications:

MalaCards categories:
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080040

Sources

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

Sources

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:

Sources

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

Sources

Drugs & Therapeutics for Fibrogenesis Imperfecta Ossium

Search Clinical Trials , NIH Clinical Center for Fibrogenesis Imperfecta Ossium

Sources

Genetic Tests for Fibrogenesis Imperfecta Ossium

Sources

Anatomical Context for Fibrogenesis Imperfecta Ossium

MalaCards organs/tissues related to Fibrogenesis Imperfecta Ossium:

⁴⁰

Bone

Sources

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	Prior-Espanol A...Gifre L	33763797	2021
2	Fibrogenesis Imperfecta Ossium. ⁶¹	Bhadada SK...Rao SD	31069441	2019
3	Fibrogenesis Imperfecta Ossium: Clinical Approach to Diagnosis and Management of a Rare Skeletal Disorder. ⁶¹	Dhaliwal R...Bhadada SK	30869792	2019
4	Fibrogenesis Imperfecta Ossium and Response to Human Growth Hormone: A Potential Therapy. ⁶¹	Bhadada SK...Rao SD	28323922	2017
5	Clinical, cellular, microscopic, and ultrastructural studies of a case of fibrogenesis imperfecta ossium. ⁶¹	Barron ML...Clifton-Bligh PB	28326223	2017
6	Report on a case of fibrogenesis imperfecta ossium and a possible new treatment option. ⁶¹	Bakos B...Takacs I	24647887	2014
7	Radiographic findings in Waldenström's macroglobulinemia resembling fibrogenesis imperfecta ossium (FIO): a case report. ⁶¹	Epperla N...Kenney CV	24072255	2014
8	[Asthma and baker's allergy: experience with health programs]. ⁶¹	Cirla AM	21425628	2011
9	Fibrogenesis imperfecta ossium: MR imaging of the axial and appendicular skeleton and correlation with a unique radiographic appearance. ⁶¹	Coursey C...Martinez S	17618434	2007
10	Fibrogenesis imperfecta ossium (Baker's disease): a case studied at autopsy. ⁶¹	Sissons HA	11113399	2000
11	Fibrogenesis imperfecta ossium: imaging correlation in three new patients. ⁶¹	Wang CS...Johnston JO	10478620	1999
12	Fibrogenesis imperfecta ossium: ineffectiveness of melphalan. ⁶¹	Lafage-Proust M...Dehais J	8781045	1996
13	Fibrogenesis imperfecta ossium. ⁶¹	Carr AJ...Woods CG	7559718	1995
14	Ultrastructural features of the osteoid of patients with fibrogenesis imperfecta ossium. ⁶¹	Ralphs JR...Ali SY	2803859	1989
15	Fibrogenesis imperfecta ossium with early onset: observations after 20 years of illness. ⁶¹	Lang R...Jensen PS	3490268	1986
16	Fibrogenesis imperfecta ossium: remission with melphalan. ⁶¹	Stamp TC...Willoughby JM	2857933	1985
17	Fibrogenesis imperfecta ossium. ⁶¹	Stoddart PG...Watt I	6466951	1984
18	Fibrogenesis imperfecta ossium (clinical, biochemical and ultrastructural investigations). ⁶¹	Pinto F...De Sandre G	7347735	1981
19	[Axial osteomalacia. Comparative analysis with fibrogenesis imperfecta ossium (author's transl)]. ⁶¹	Christmann D...Wackenheim A	7205749	1981
20	Fibrogenesis imperfecta ossium. ⁶¹	Swan CH...Cooke WT	1085005	1976
21	Alaskan malamute chondrodysplasia. I. Bone composition studies. ⁶¹	Hoag GN...Subden RE	1261875	1976
22	[Fibrogenesis imperfecta ossium. Study of 2 cases in the same family]. ⁶¹	Camus JP...Cros F	1217766	1975
23	Fibrogenesis imperfecta ossium. A collagen defect causing osteomalacia. ⁶¹	Frame B...Argen RJ	5567261	1971
24	Unusual bone trabeculation in a patient with macroglobulinaemia simulating fibrogenesis imperfecta ossium. ⁶¹	Stanley P...Byers PD	4994677	1971
25	Hematologic abnormalities in fibrogenesis imperfecta ossium. ⁶¹	Golde D...Gralnick HR	5546711	1971
26	Fibrogenesis imperfecta ossium. ⁶¹	Baker SL...Watson L	5954373	1966
27	Fibrogenesis imperfecta ossium; a generalised disease of bone characterised by defective formation of the collagen fibres of the bone matrix. ⁶¹	BAKER SL	13295341	1956
28	On the morbid picture of baker's disease and its pathogenesis. ⁶¹	DI PRISCO L	18868016	1948

Sources

Genes for Fibrogenesis Imperfecta Ossium

Genes related to Fibrogenesis Imperfecta Ossium (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ADGRG7	Adhesion G Protein-Coupled Receptor G7	Protein Coding	6.47	DISEASES inferred ¹⁵
2	OSTM1	Osteoclastogenesis Associated Transmembrane Protein 1	Protein Coding	5.9	DISEASES inferred ¹⁵
3	CRTAP	Cartilage Associated Protein	Protein Coding	5.81	DISEASES inferred ¹⁵
4	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	5.62	DISEASES inferred ¹⁵
5	LEMD3	LEM Domain Containing 3	Protein Coding	5.54	DISEASES inferred ¹⁵
6	TCIRG1	T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3	Protein Coding	5.52	DISEASES inferred ¹⁵
7	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	5.41	DISEASES inferred ¹⁵
8	CLCN7	Chloride Voltage-Gated Channel 7	Protein Coding	5.41	DISEASES inferred ¹⁵
9	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	5.37	DISEASES inferred ¹⁵

Sources

Variations for Fibrogenesis Imperfecta Ossium

Sources

Expression for Fibrogenesis Imperfecta Ossium

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

Sources

Pathways for Fibrogenesis Imperfecta Ossium

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

#	Super pathways	Score	Top Affiliating Genes
1	Ion channel transport ⁶⁵ Show member pathways Stimuli-sensing channels ⁶⁵	12.08	TCIRG1 OSTM1 CLCN7
2	Collagen chain trimerization ⁶⁵ Show member pathways Anchoring fibril formation ⁶⁵ Assembly of collagen fibrils and other multimeric structures ⁶⁵ Blood Coagulation Cascade ⁶³ Collagen biosynthesis and modifying enzymes ⁶⁵ Collagen formation ⁶⁵ Crosslinking of collagen fibrils ⁶⁵ Intrinsic Prothrombin Activation Pathway ⁶³ Protein digestion and absorption ³⁶	11.99	P3H1 CRTAP COL1A2 COL1A1
3	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	11.58	P3H1 CRTAP COL1A2 COL1A1
4	IL4-mediated signaling events ¹	11.28	COL1A2 COL1A1
5	Cell adhesion_ECM remodeling ²³	11.24	COL1A2 COL1A1
6	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.14	COL1A2 COL1A1
7	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms ²³	10.97	COL1A2 COL1A1
8	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²³	10.91	COL1A2 COL1A1
9	Inflammatory Response Pathway ¹	10.78	COL1A2 COL1A1
10	VEGFR3 signaling in lymphatic endothelium ¹	10.52	COL1A2 COL1A1

Sources

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

Sources for Fibrogenesis Imperfecta Ossium

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia