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

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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:

MalaCards categories:
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0080040

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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

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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:

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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

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Drugs & Therapeutics for Fibrogenesis Imperfecta Ossium

Search Clinical Trials, NIH Clinical Center for Fibrogenesis Imperfecta Ossium

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Genetic Tests for Fibrogenesis Imperfecta Ossium

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Anatomical Context for Fibrogenesis Imperfecta Ossium

Organs/tissues related to Fibrogenesis Imperfecta Ossium:

MalaCards : Bone

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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	Prior-Espanol A...Gifre L	33763797	2021
2	Fibrogenesis Imperfecta Ossium. ⁶²	Bhadada SK...Rao SD	31069441	2019
3	Fibrogenesis Imperfecta Ossium: Clinical Approach to Diagnosis and Management of a Rare Skeletal Disorder. ⁶²	Dhaliwal R...Bhadada SK	30869792	2019
4	Fibrogenesis Imperfecta Ossium and Response to Human Growth Hormone: A Potential Therapy. ⁶²	Bhadada SK...Rao SD	28323922	2017
5	Clinical, cellular, microscopic, and ultrastructural studies of a case of fibrogenesis imperfecta ossium. ⁶²	Barron ML...Clifton-Bligh PB	28326223	2017
6	Report on a case of fibrogenesis imperfecta ossium and a possible new treatment option. ⁶²	Bakos B...Takacs I	24647887	2014
7	Radiographic findings in Waldenström's macroglobulinemia resembling fibrogenesis imperfecta ossium (FIO): a case report. ⁶²	Epperla N...Kenney CV	24072255	2014
8	[Asthma and baker's allergy: experience with health programs]. ⁶²	Cirla AM	21425628	2011
9	Fibrogenesis imperfecta ossium: MR imaging of the axial and appendicular skeleton and correlation with a unique radiographic appearance. ⁶²	Coursey C...Martinez S	17618434	2007
10	Fibrogenesis imperfecta ossium (Baker's disease): a case studied at autopsy. ⁶²	Sissons HA	11113399	2000
11	Fibrogenesis imperfecta ossium: imaging correlation in three new patients. ⁶²	Wang CS...Johnston JO	10478620	1999
12	Fibrogenesis imperfecta ossium: ineffectiveness of melphalan. ⁶²	Lafage-Proust M...Dehais J	8781045	1996
13	Fibrogenesis imperfecta ossium. ⁶²	Carr AJ...Woods CG	7559718	1995
14	Ultrastructural features of the osteoid of patients with fibrogenesis imperfecta ossium. ⁶²	Ralphs JR...Ali SY	2803859	1989
15	Fibrogenesis imperfecta ossium with early onset: observations after 20 years of illness. ⁶²	Lang R...Jensen PS	3490268	1986
16	Fibrogenesis imperfecta ossium: remission with melphalan. ⁶²	Stamp TC...Willoughby JM	2857933	1985
17	Fibrogenesis imperfecta ossium. ⁶²	Stoddart PG...Watt I	6466951	1984
18	Fibrogenesis imperfecta ossium (clinical, biochemical and ultrastructural investigations). ⁶²	Pinto F...De Sandre G	7347735	1981
19	[Axial osteomalacia. Comparative analysis with fibrogenesis imperfecta ossium (author's transl)]. ⁶²	Christmann D...Wackenheim A	7205749	1981
20	Fibrogenesis imperfecta ossium. ⁶²	Swan CH...Cooke WT	1085005	1976
21	Alaskan malamute chondrodysplasia. I. Bone composition studies. ⁶²	Hoag GN...Subden RE	1261875	1976
22	[Fibrogenesis imperfecta ossium. Study of 2 cases in the same family]. ⁶²	Camus JP...Cros F	1217766	1975
23	Fibrogenesis imperfecta ossium. A collagen defect causing osteomalacia. ⁶²	Frame B...Argen RJ	5567261	1971
24	Unusual bone trabeculation in a patient with macroglobulinaemia simulating fibrogenesis imperfecta ossium. ⁶²	Stanley P...Byers PD	4994677	1971
25	Hematologic abnormalities in fibrogenesis imperfecta ossium. ⁶²	Golde D...Gralnick HR	5546711	1971
26	Fibrogenesis imperfecta ossium. ⁶²	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. ⁶²	BAKER SL	13295341	1956
28	On the morbid picture of baker's disease and its pathogenesis. ⁶²	DI PRISCO L	18868016	1948

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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	6.84	DISEASES inferred ¹⁴
2	OSTM1	Osteoclastogenesis Associated Transmembrane Protein 1	Protein Coding	5.31	DISEASES inferred ¹⁴
3	CRTAP	Cartilage Associated Protein	Protein Coding	5.19	DISEASES inferred ¹⁴
4	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	4.99	DISEASES inferred ¹⁴
5	LEMD3	LEM Domain Containing 3	Protein Coding	4.98	DISEASES inferred ¹⁴
6	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	4.97	DISEASES inferred ¹⁴
7	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	4.85	DISEASES inferred ¹⁴
8	TCIRG1	T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3	Protein Coding	4.84	DISEASES inferred ¹⁴
9	CLCN7	Chloride Voltage-Gated Channel 7	Protein Coding	4.8	DISEASES inferred ¹⁴

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Variations for Fibrogenesis Imperfecta Ossium

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Expression for Fibrogenesis Imperfecta Ossium

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

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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	Collagen chain trimerization ⁶⁶ Show member pathways Anchoring fibril formation ⁶⁶ Assembly of collagen fibrils and other multimeric structures ⁶⁶ Blood Coagulation Cascade ⁶⁴ Collagen biosynthesis and modifying enzymes ⁶⁶ Collagen degradation ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴	12.26	P3H1 CRTAP COL1A2 COL1A1
2	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.16	TCIRG1 OSTM1 CLCN7
3	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	12.1	P3H1 CRTAP COL1A2 COL1A1
4	Microglia pathogen phagocytosis pathway ⁷⁴ Show member pathways GPVI-mediated activation cascade ⁶⁶	11.46	COL1A2 COL1A1
5	Burn wound healing ⁷⁴	11.45	COL1A2 COL1A1
6	Cell adhesion_ECM remodeling ²²	11.35	COL1A2 COL1A1
7	IL4-mediated signaling events ⁶¹	11.34	COL1A2 COL1A1
8	Integrins in angiogenesis ⁶¹	11.3	COL1A2 COL1A1
9	NRP1-triggered signaling pathways in pancreatic cancer ⁷⁴	11.26	COL1A2 COL1A1
10	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.23	COL1A2 COL1A1
11	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.09	COL1A2 COL1A1
12	Beta3 integrin cell surface interactions ⁶¹	11.07	COL1A2 COL1A1
13	Inflammatory response pathway ⁷⁴	10.98	COL1A2 COL1A1
14	Syndecan-1-mediated signaling events ⁶¹	10.91	COL1A1 COL1A2
15	Angiotensin II receptor type 1 pathway ⁷⁴	10.85	COL1A2 COL1A1
16	Platelet Adhesion to exposed collagen ⁶⁶ Show member pathways GP1b-IX-V activation signalling ⁶⁶	10.8	COL1A2 COL1A1
17	VEGFR3 signaling in lymphatic endothelium ⁶¹	10.7	COL1A2 COL1A1
18	Type I collagen synthesis in the context of osteogenesis imperfecta ⁷⁴	10.44	P3H1 CRTAP COL1A2 COL1A1
19	Autosomal recessive osteopetrosis pathways ⁷⁴	10.17	TCIRG1 OSTM1 CLCN7

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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

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Sources for Fibrogenesis Imperfecta Ossium

¹ BitterDB

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⁵³ Novoseek

⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

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⁶⁰ PharmGKB

⁶¹ PubChem

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⁶⁸ SNOMED-CT

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⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: FBR010 MIFTS: 25	Fibrogenesis Imperfecta Ossium Categories: Bone diseases	Data Licensing For inquiries, contact: [email protected]
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