Fibrodysplasia Ossificans Progressiva malady

NIH Rare Diseases: Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) which constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs.  People with FOP are generally born with abnormally big toes which can be helpful in clarifying the diagnosis. Trauma to the muscles of an individual with FOP, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid bone growth in the injured area. FOP can be caused by mutations in the ACVR1 gene and is inherited in an autosomal dominant manner. More about Fibrodysplasia ossificans progressiva References Fibrodysplasia ossificans progressiva. Genetic Home Reference. August 2007 Available at: http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva. Accessed March 16, 2011. ³⁰

MalaCards: Fibrodysplasia Ossificans Progressiva, also known as progressive myositis ossificans, is related to myositis ossificans and osteochondroma. An important gene associated with Fibrodysplasia Ossificans Progressiva is BMP4 (bone morphogenetic protein 4), and among its related pathways are TGF-beta/Smad Signaling and Signaling by BMP. The compounds 6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine and rapamycin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are respiratory system and integument.

Disease Ontology: .a connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has material basis in heterozygous mutation in the acvr1 gene.⁶

Genetics Home Reference: Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.¹⁷

Wikipedia: Fibrodysplasia ossificans progressiva (FOP), sometimes referred to as Stone Man Syndrome, is an...⁴⁴ more...

OMIM: 135100

Aliases & Descriptions:

fibrodysplasia ossificans progressiva 6 7 30 16 17 8 33 32 43 progressive myositis ossificans 6 30 17 progressive ossifying myositis 6 30 17 myositis ossificans 30 17 43

myositis ossificans progressiva 6 30 multiple endocrine neoplasia (men) syndrome 43 stone man syndrome 6 fop 30

Diseases related to fibrodysplasia ossificans progressiva by text searches and GeneDecks gene sharing:

(show top 50)    (show all 137)

id	Related Disease	Score	Top Affiliating Genes
1	myositis ossificans	33.5	BMP1, JUN, FOS
2	osteochondroma	32.6	BMP2, FGF2, ACVR1
3	sarcoma	27.6	BMP1, BMP2, BMP4, SDC2, JUN, FOS
4	hypertension	21.5	BMP2, BMP4, BMPR1A, JUN, FOS, FGF2
5	pilomatrixoma	13.5	BMP2, BMP4
6	otosclerosis	13.4	BMP2, BMP4, NOG
7	synostosis	13.3	BMP2, BMP4, MSX2, NOG
8	brachydactyly type a2	13.3	BMP2, BMPR1A
9	cleidocranial dysplasia	13.3	BMP2, MSX2, SMAD1
10	ankylosis	13.3	BMP2, FGFR1OP, NOG, ACVR1
11	craniofacial anomalies	13.2	BMP4, MSX2, GNAS
12	periostitis	13.1	BMP2, BMP4, FOS, FGF2
13	hereditary hemorrhagic telangiectasia	13.1	BMPR1A, INHBE, SMAD1
14	fibrous dysplasia	13.0	MSX2, FOS, GNAS
15	progressive osseous heteroplasia	13.0	BMP2, BMP4, GNAS, NOG, ACVR1
16	myelofibrosis	12.9	BMP1, BMP2, FGF2, NOG
17	primary pulmonary hypertension	12.9	BMP2, BMP4, SMAD1, SMAD9, ACVR1
18	hemochromatosis	12.9	BMP2, BMP4, SMAD1, SMAD5, SMAD7
19	pulmonary hypertension	12.9	BMP2, BMP4, BMPR1A
20	brachydactyly	12.8	BMP2, BMPR1A, GNAS, NOG
21	cleft lip	12.7	BMP4, BMPR1A, SDC2, MSX2, NOG
22	craniosynostosis	12.6	BMP2, MSX2, FGF2, GNAS, NOG
23	pituitary tumor	12.5	BMP2, FOS, FGF2, ID3, GNAS
24	cleft palate	12.5	BMP2, BMP4, BMPR1A, MSX2, FGF2, NOG
25	pediatric cns embryonal cell carcinoma	12.5	BMP2, BMP4, MSX2, JUN, FOS, SMAD1
26	teratocarcinoma	12.3	BMP2, JUN, FOS, FGF2
27	differentiating neuroblastoma	12.3	BMP2, FOS, MAPK1, GNAS
28	inflammatory breast cancer	12.2	JUN, FOS, FGF2, NFKB1
29	pituitary adenoma	12.2	BMP4, BMPR1A, FOS, FGF2, GNAS, ACVR1
30	middle ear cholesteatoma	12.2	JUN, FGF2, NFKB1
31	glucocorticoid resistance	12.2	JUN, FOS, MAPK1
32	soft tissue sarcoma	12.2	BMP2, BMP4, FGF2, MAPK14, NFKB1
33	microphthalmia	12.1	BMP4, FOS, MAPK14, MAPK1
34	traumatic brain injury	12.0	BMP2, JUN, FOS, MAPK1
35	multiple endocrine neoplasia	12.0	JUN, FGF2, GNAS, SMAD1, SMAD5
36	clostridium difficile	11.8	JUN, FOS, MAPK14, MAPK1
37	non-small cell lung carcinoma	11.8	BMP2, JUN, FGF2, MAPK1
38	balanitis	11.8	JUN, FOS, MAPK14, MAPK1
39	rhabdomyosarcoma	11.8	BMP4, FOS, FKBP1A, MAPK14, MAPK1, NOG
40	chondrosarcoma	11.7	BMP2, SDC2, FGF2, MAPK1, NFKB1
41	prolactinoma	11.7	BMP2, BMP4, FOS, FGF2, MAPK1, GNAS
42	rheumatic pulmonary valve disease	11.7	JUN, FOS, FGF2, MAPK14, GNAS
43	cholesteatoma	11.5	JUN, FGF2, MAPK1, NFKB1
44	osteoporosis	11.5	BMP2, BMP4, JUN, FOS, MAPK1, GNAS
45	spinal cord injury	11.5	JUN, FOS, FGF2, MAPK1
46	urinary bladder cancer	11.4	JUN, FGF2, MAPK1, NFKB1
47	epithelial ovarian cancer	11.4	BMP2, BMPR1A, JUN, FOS, MAPK1, ACVR1C
48	squamous cell carcinoma of the head and neck	11.4	JUN, FOS, FGF2, MAPK1, NFKB1
49	skin cancer	11.4	JUN, FOS, FGF2, MAPK14, MAPK1
50	hypertrophy of breast	11.3	BMP1, BMP2, BMP4, JUN, FOS, FGF2

Clinical features from OMIM: 135100

Approved drugs:

Drug clinical trials:

Genetic tests related to fibrodysplasia ossificans progressiva:

id	Genetic test	Affiliating Genes
1	Fibrodysplasia Ossificans Progressiva clinical/research	ACVR1

MalaCards organs/tissues related to fibrodysplasia ossificans progressiva:

²²

MGI Mouse Phenotypes related to fibrodysplasia ossificans progressiva:

²⁵ (show all 23)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	9.5	NOG, SMAD9, FKBP1A, BMPR1A
2	integument phenotype	MP:0010771	9.4	NOG, GNAS, FKBP1A, FOS, MSX2
3	embryogenesis phenotype	MP:0005380	9.2	NOG, SMAD9, ID3, FKBP1A, FOS, MSX2
4	limbs/digits/tail phenotype	MP:0005371	8.9	NOG, GNAS, FOS, MSX2, BMPR1A, BMP4
5	digestive/alimentary phenotype	MP:0005381	8.4	ACVR1, NFKB1, NOG, SMAD5, SMAD1, ID3
6	craniofacial phenotype	MP:0005382	8.3	ACVR1, NOG, SMAD9, SMAD5, SMAD1, GNAS
7	hearing/vestibular/ear phenotype	MP:0005377	8.0	ACVR1, NFKB1, NOG, GNAS, FGF2, FOS
8	endocrine/exocrine gland phenotype	MP:0005379	8.0	NOG, SMAD1, GNAS, ID3, FOS, JUN
9	vision/eye phenotype	MP:0005391	7.9	NOG, ID3, FGF2, FOS, JUN, MSX2
10	tumorigenesis	MP:0002006	7.8	SMAD9, SMAD5, SMAD1, ID3, MAPK14, FGF2
11	reproductive system phenotype	MP:0005389	7.7	NOG, SMAD9, SMAD7, SMAD5, SMAD1, MAPK1
12	normal phenotype	MP:0002873	7.3	BMP2, ACVR1C, NOG, SMAD9, SMAD5, SMAD1
13	mortality/aging	MP:0010768	6.6	SMAD1, SMAD5, SMAD7, SMAD9, NOG, ACVR1C
14	behavior/neurological phenotype	MP:0005386	6.5	ACVR1, NFKB1, SMAD7, GNAS, MAPK1, FGF2
15	muscle phenotype	MP:0005369	6.1	SMAD1, SMAD5, SMAD7, NOG, NFKB1, GNAS
16	skeleton phenotype	MP:0005390	6.1	MAPK14, GNAS, SMAD1, SMAD5, NOG, NFKB1
17	immune system phenotype	MP:0005387	6.1	SMAD9, SMAD7, GNAS, ID3, MAPK1, MAPK14
18	hematopoietic system phenotype	MP:0005397	5.8	ID3, GNAS, SMAD5, SMAD7, NFKB1, MAPK1
19	homeostasis/metabolism phenotype	MP:0005376	5.3	NFKB1, NOG, SMAD7, SMAD5, SMAD1, GNAS
20	cellular phenotype	MP:0005384	5.0	GNAS, SMAD1, SMAD5, SMAD7, NOG, NFKB1
21	cardiovascular system phenotype	MP:0005385	5.0	ID3, GNAS, SMAD1, SMAD5, SMAD7, SMAD9
22	nervous system phenotype	MP:0003631	4.8	ID3, GNAS, SMAD1, SMAD5, SMAD9, NOG
23	growth/size phenotype	MP:0005378	4.7	GNAS, SMAD1, SMAD5, SMAD7, SMAD9, NOG

Articles related to fibrodysplasia ossificans progressiva:

(show all 41)

id	Title	Authors	Year	Affiliating Genes
1	A novel mutation of ALK2, L196P, found in the most be nign case of fibrodysplasia ossificans progressiva activates BMP-specific intra cellular signaling equivalent to a typical mutation, R206H. (21377447)	Ohte S.... Katagiri T.	2011	ACVR1
2	Fibrodysplasia ossificans progressiva (FOP): watch th e great toes! (20577760)	Kartal-Kaess M.... Lauten M.	2010	ACVR1
3	Molecular consequences of the ACVR1(R206H) mutation o f fibrodysplasia ossificans progressiva. (20463014)	Song G.A.... Ryoo H.M.	2010	ACVR1
4	Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. (18684712)	Fukuda T.... Katagiri T.	2009	ACVR1, SMAD7, SMAD1
5	Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. (19330033)	Petrie K.A.... Triffitt J.T.	2009	ACVR1
6	Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. (18830232)	Bocciardi R.... Ravazzolo R.	2009	ACVR1
7	Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. (19085907)	Kaplan F.S.... Shore E.M.	2009	ACVR1
8	ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva. (19543505)	Lee D.Y.... Choi I.H.	2009	ACVR1
9	Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients. (19400542)	Lucotte G.... Lenoir G.	2009	ACVR1, NOG
10	A recurrent mutation c.617G>A in the ACVR1 gene ca uses fibrodysplasia ossificans progressiva in two Chinese patients. (19300893)	Sun Y.... Zhou X.	2009	ACVR1
11	Lumbar puncture and surgical intervention in a child with undiagnosed fibrodysplasia ossificans progressiva. (18352811)	Zaghloul K.A.... Storm P.B.	2008	ACVR1
12	Response to 'Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)' by Lucotte et al. (18990993)	Kaplan F.S.... Shore E.M.	2008	ACVR1, NOG
13	Early diagnosis of fibrodysplasia ossificans progressiva. (18450872)	Kaplan F.S.... Shore E.M.	2008	ZMYND11
14	Dysregulated BMP signaling and enhanced osteogenic differentiation of connective tissue progenitor cells from patients with fibrodysplasia ossificans progressiva (FOP). (17967130)	Billings P.C.... Kaplan F.S.	2008	MAPK14, BMP4, ACVR1
15	Proximal tibial osteochondromas in patients with fibrodysplasia ossificans progressiva. (18245597)	Deirmengian G.K.... Kaplan F.S.	2008	ACVR1
16	A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor. (18952055)	Fukuda T.... Katagiri T.	2008	ACVR1
17	HSPG modulation of BMP signaling in fibrodysplasia ossificans progressiva cells. (17516498)	O'Connell M.P.... Kaplan F.S.	2007	SDC2
18	Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP). (18019378)	Lucotte G.... Lagarde J.P.	2007	ACVR1, NOG
19	The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. (17351709)	Nakajima M.... Ikegawa S.	2007	ACVR1
20	Dysregulation of the BMP-p38 MAPK signaling pathway in cells from patients with fibrodysplasia ossificans progressiva (FOP). (16753021)	Fiori J.L.... Shore E.M.	2006	MAPK1, MSX2, ID3
21	A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. (16642017)	Shore E.M.... Kaplan F.S.	2006	ACVR1
22	Dysregulation of the BMP-4 signaling pathway in fibrodysplasia ossificans progressiva. (16831905)	Kaplan F.S.... Shore E.M.	2006	BMP4
23	Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA. (15940369)	de la Pena L.S.... Shore E.M.	2005	BMPR1A
24	A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family. (16080294)	Fontaine K.... Lucotte G.	2005	NOG
25	Exoneration of NF-kappaB dysregulation in fibrodysplasia ossificans progressiva. (12579020)	Ahn J.... Kaplan F.S.	2003	NFKB1, BMP4
26	Fibrodysplasia ossificans progressiva. (12804980)	Blaszczyk M.... Jablonska S.	2003	BMP4
27	Bone morphogenetic protein-4 regulation in fibrodysplasia ossificans progressiva. (12616078)	Olmsted E.A.... Shore E.M.	2003	BMP4
28	Bone morphogenetic proteins with some comments on fibrodysplasia ossificans progressiva and NOGGIN. (11977155)	Cohen M.M.	2002	NOG
29	Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva. (11977169)	Warman M.L.	2002	NOG
30	Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. (11503156)	Semonin O.... Lucotte G.	2001	NOG
31	Mast cell involvement in fibrodysplasia ossificans progressiva. (11521229)	Gannon F.H.... Kaplan F.S.	2001	BMP4
32	Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. (10631143)	Feldman G.... Shore E.M.	2000	ACVR1
33	Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP). (11076054)	Xu M.Q.... Kaplan F.S.	2000	NOG
34	A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient. (10665670)	Lucotte G.... Lutz P.	1999	ACVR1
35	Differential expression of bone and cartilage related genes in fibrodysplasia ossificans progressiva, myositis ossificans traumatica, and osteogenic sarcoma. (9577409)	Shafritz A.B.... Kaplan F.S.	1998	FOS, JUN, BMP1
36	Urinary basic fibroblast growth factor. A biochemical marker for preosseous fibroproliferative lesions in patients with fibrodysplasia ossificans progressiva. (9577411)	Kaplan F.... Folkman J.	1998	FGF2
37	Characterization of bone morphogenetic protein 4 receptor in fibrodysplasia ossificans progressiva. (9577408)	Lanchoney T.F.... Kaplan F.S.	1998	BMP4
38	Embryonic overexpression of the c-Fos protooncogene. A murine stem cell chimera applicable to the study of fibrodysplasia ossificans progressiva in humans. (9577414)	Olmsted E.A.... Kaplan F.S.	1998	FOS, BMP4
39	Mutational screening of the bone morphogenetic protein 4 gene in a family with fibrodysplasia ossificans progressiva. (9577410)	Xu M.... Shore E.M.	1998	BMP4
40	Bone morphogenetic protein 2/4 in early fibromatous lesions of fibrodysplasia ossificans progressiva. (9042799)	Gannon F.H.... Shore E.	1997	BMP4
41	Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. (8678932)	Shafritz A.B.... Kaplan F.S.	1996	BMP4

Genes related to fibrodysplasia ossificans progressiva according to GeneCards:

(show all 27)

id	Symbol	Description	Score	GeneCards Section Context
1	BMP4	bone morphogenetic protein 4	11.1	Publications, Summaries
2	NOG	noggin	11.1	Publications
3	ACVR1	activin A receptor, type I	11.1	Publications
4	BMP2	bone morphogenetic protein 2	11.1
5	FOS	FBJ murine osteosarcoma viral oncogene homolog	11.1	Publications
6	FKBP1C	FK506 binding protein 1C	11.0	Disorders
7	TMEM119	transmembrane protein 119	11.0	Disorders
8	INHBE	inhibin, beta E	11.0
9	ID3	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	11.0	Publications
10	MSX2	msh homeobox 2	11.0	Publications
11	SMAD5	SMAD family member 5	11.0	Publications
12	ZMYND11	zinc finger, MYND-type containing 11	11.0	Publications
13	SDC2	syndecan 2	11.0	Publications
14	SMAD1	SMAD family member 1	11.0	Publications
15	BMP1	bone morphogenetic protein 1	11.0	Publications
16	SMAD7	SMAD family member 7	11.0	Publications
17	ACVR1C	activin A receptor, type IC	11.0
18	FGFR1OP	FGFR1 oncogene partner	11.0
19	SMAD9	SMAD family member 9	11.0
20	FKBP1A	FK506 binding protein 1A, 12kDa	11.0
21	BMPR1A	bone morphogenetic protein receptor, type IA	11.0	Publications
22	GNAS	GNAS complex locus	11.0
23	FGF2	fibroblast growth factor 2 (basic)	11.0	Publications
24	NFKB1	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	11.0	Publications
25	JUN	jun proto-oncogene	11.0	Publications
26	MAPK14	mitogen-activated protein kinase 14	11.0	Publications
27	MAPK1	mitogen-activated protein kinase 1	11.0	Publications

Pathways related to fibrodysplasia ossificans progressiva according to GeneDecks:

(show top 50)    (show all 200)

id	Pathway	Score	Top Affiliating Genes
1	TGF-beta/Smad Signaling3	9.8	ACVR1, BMP4, SMAD1, SMAD5, SMAD9
2	Signaling by BMP38	9.5	SMAD5, BMP2, NOG, SMAD9, SMAD1, BMPR1A
3	Human Embryonic Stem Cell Pluripotency36	9.3	ACVR1C, NOG, FGF2, BMPR1A, BMP4, BMP2
4	PEDF Induced Signaling36	9.0	BMP4, MAPK1, BMP1, BMP2, FOS, NFKB1
5	Immune response MIF-mediated glucocorticoid regulation10	8.6	MAPK1, JUN, FOS, NFKB1
6	Factors Promoting Cardiogenesis in Vertebrates36	8.6	BMP2, BMPR1A, ACVR1, NOG, MAPK14, FGF2
7	Tec Kinases Signaling36	8.6	ACVR1, BMP1, BMP2, BMPR1A, FGF2, NFKB1
8	MIF Regulation of Innate Immune Cells36	8.5	JUN, BMP4, BMP2, FOS, BMP1, MAPK1
9	Ras Pathway36	8.4	FGF2, FOS, JUN, BMP4, MAPK1, BMP2
10	STAT3 Pathway36	8.4	ACVR1, MAPK14, BMPR1A, BMP1, BMP2, BMP4
11	Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR210	8.2	FOS, MAPK1, NFKB1, JUN, MAPK14
12	Development TGF-beta receptor signaling10	8.2	SMAD7, NFKB1, MAPK1, FKBP1A, MAPK14
13	Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR241	8.2	JUN, MAPK14, MAPK1, FOS, NFKB1
14	HMGB1 Pathway36	8.2	NFKB1, MAPK1, MAPK14, FOS, JUN
15	Development_TGF-beta receptor signaling41	8.2	NFKB1, SMAD7, MAPK1, MAPK14, FKBP1A
16	RANK Signaling in Osteoclasts36	8.2	FOS, MAPK14, NFKB1, MAPK1, JUN
17	TNF Signaling36	8.2	JUN, FOS, MAPK14, MAPK1, NFKB1
18	mTOR Pathway36	8.2	BMP1, MAPK14, MAPK1, FGF2, BMP2, FKBP1A
19	Rac1 Pathway36	8.2	NFKB1, FGF2, JUN, MAPK1, BMP1, BMP2
20	Mucin expression in CF via TLRs, EGFR signaling pathways41	8.1	MAPK14, FOS, MAPK1, NFKB1, JUN
21	Development FGFR signaling pathway10	8.1	MAPK1, FGF2, SDC2, JUN, MAPK14
22	Development_FGFR signaling pathway41	8.1	MAPK1, FGF2, JUN, MAPK14, SDC2
23	Endothelin-1 Signaling Pathway36	8.1	JUN, BMP4, MAPK14, MAPK1, BMP2, BMP1
24	LPS Stimulated MAPK Signaling36	8.0	NFKB1, FOS, MAPK14, MAPK1, JUN
25	Glioma Invasiveness36	8.0	BMP2, MAPK1, MAPK14, FGF2, BMP4, BMP1
26	JAK-STAT Pathway36	8.0	NFKB1, BMP2, BMP1, MAPK1, FGF2, FOS
27	Leishmaniasis20	8.0	FOS, MAPK14, NFKB1, JUN, MAPK1
28	BMP Pathway36	8.0	NFKB1, MAPK14, JUN, ACVR1, FOS, BMPR1A
29	IL-2 Pathway36	7.9	JUN, NFKB1, FOS, MAPK14, MAPK1
30	14-3-3 Induced Intracellular Signaling36	7.9	JUN, BMP2, BMP4, FGF2, MAPK14, MAPK1
31	Pertussis20	7.9	NFKB1, JUN, FOS, MAPK14, MAPK1
32	ILK Signaling36	7.9	JUN, BMP2, BMP1, BMP4, FOS, FGF2
33	Development_A2A receptor signaling41	7.9	JUN, MAPK1, GNAS, MAPK14, NFKB1
34	Development A2A receptor signaling10	7.9	NFKB1, GNAS, MAPK1, MAPK14, JUN
35	TREM1 Pathway36	7.8	NFKB1, MAPK1, MAPK14, FOS, JUN
36	Chagas disease (American trypanosomiasis)20	7.8	MAPK1, MAPK14, FOS, JUN, NFKB1, GNAS
37	p38 Signaling36	7.7	BMPR1A, BMP2, BMP4, FGF2, MAPK14, NFKB1
38	TGF-Beta Pathway36	7.7	BMP2, MAPK1, MAPK14, FGF2, FOS, BMP4
39	TGF-beta signaling pathway20	7.7	BMP2, INHBE, ACVR1, SMAD9, ACVR1C, NOG
40	Glucocorticoid Receptor Signaling36	7.7	MAPK1, MAPK14, FOS, JUN, BMP4, BMP2
41	TGF-beta Signaling Pathways37	7.5	SMAD5, NFKB1, SMAD7, JUN, FOS, MAPK14
42	Antioxidant Action of Vitamin-C36	7.5	BMP1, BMP2, BMP4, NFKB1, ACVR1, FGF2
43	14-3-3 Induced Apoptosis36	7.5	MAPK14, NFKB1, FOS, JUN, MAPK1
44	MAPK Family Pathway36	7.4	BMP1, BMP2, BMP4, JUN, FGF2, MAPK14
45	Renin-Angiotensin Pathway36	7.2	FOS, JUN, NFKB1, MAPK1, BMP4, FGF2
46	NFAT in Immune Response36	7.2	NFKB1, MAPK14, BMP1, BMP2, MAPK1, FGF2
47	Estrogen Pathway36	7.2	BMP1, NFKB1, MAPK1, MAPK14, FGF2, FOS
48	GPCR Pathway36	7.2	NFKB1, MAPK1, FGF2, MAPK14, FOS, JUN
49	MAPK Signaling36	7.2	BMP1, BMP2, FOS, FGF2, MAPK14, MAPK1
50	Molecular Mechanisms of Cancer36	6.7	MAPK1, MAPK14, FGF2, FOS, JUN, BMPR1A

Compounds related to fibrodysplasia ossificans progressiva according to GeneDecks:

(show top 50)    (show all 74)

id	Compound	Score	Top Affiliating Genes
1	6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine9 9	11.3	ACVR1, FKBP1A
2	rapamycin32 42	11.2	BMP2, BMP4, FKBP1A
3	3-tert-butyl-4-hydroxyanisole32	10.0	FOS, JUN
4	manumycin32	9.9	MAPK14
5	heparan sulfate32 18	10.7	NOG, FGF2, SDC2, BMP4, BMP2
6	ribonucleic acid32	9.6	NOG, GNAS, FOS, BMP4, BMP2
7	4-[5-(4-FLUORO-PHENYL)-2-(4-METHANESULFINYL-PHENYL)-3H-IMIDAZOL-4-YL]-PYRIDINE9 9	10.5	MAPK1, MAPK14
8	4-(4-fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)-1h-imidazole32	9.5	MAPK1, MAPK14
9	sb22002532 9 9	11.5	MAPK1, MAPK14
10	dopamine32 9 18 9	12.4	BMP2, FOS, FKBP1A, GNAS, NOG
11	rwj 6765732 42	10.4	MAPK1, MAPK14
12	skf 8600232	9.4	MAPK1, MAPK14
13	pd 16931632	9.4	MAPK1, MAPK14, BMP4
14	pyridinylimidazole32	9.1	MAPK14, MAPK1
15	cd 43732	9.0	JUN, FOS, MAPK14
16	u012632 42	9.9	JUN, MAPK14, MAPK1
17	helenalin32	8.9	JUN, MAPK14, MAPK1
18	pd15303532	8.9	JUN, MAPK14, MAPK1
19	chelerythrine32	8.9	MAPK1, MAPK14, FOS
20	1,4-diamino-2,3-dicyano-1,4-bis(2-aminophenylthio)butadiene32	8.8	MAPK14, MAPK1
21	retinoid32	8.8	NOG, MAPK14, FOS, JUN, BMP4, BMP2
22	suramin32 9 9	10.8	MAPK1, MAPK14, FGF2, FOS
23	cl 10032	8.8	MAPK1, MAPK14, FOS, JUN
24	oligonucleotide32	8.8	ACVR1, SMAD7, GNAS, FOS, JUN, MSX2
25	forskolin32 42 9 9	11.7	GNAS, MAPK1, FOS, JUN, BMP4, BMP2
26	apocynin32	8.7	MAPK1, MAPK14, JUN
27	pdtc32	8.7	MAPK1, MAPK14, FOS, JUN
28	ag 147832	8.7	MAPK1, MAPK14, FOS, JUN
29	4-hydroxynonenal32 18	9.7	MAPK1, MAPK14, FOS, JUN
30	anisomycin32 42 9 9	11.6	MAPK1, MAPK14, FOS, JUN
31	thymidine32 18	9.4	GNAS, MAPK1, FGF2, FOS, JUN, BMP4
32	phorbol32	8.3	JUN, FOS, MAPK14, MAPK1
33	matrigel32	8.3	MAPK1, MAPK14, FGF2, JUN, BMP2
34	15-deoxy-delta-12,14-prostaglandin j232	8.3	MAPK1, MAPK14, FGF2, FOS, JUN
35	gf 109203x32 42	9.3	MAPK1, MAPK14, FGF2, FOS, JUN
36	herbimycin a32 42	9.3	MAPK1, MAPK14, FGF2, FOS, JUN
37	n acetylcysteine32	8.1	SMAD7, MAPK1, MAPK14, FOS, JUN
38	genistein32 9 18 9	11.0	MAPK1, MAPK14, FGF2, FOS, JUN, BMP2
39	ly29400232	8.0	MAPK1, MAPK14, FGF2, FKBP1A, FOS, JUN
40	sb 20358032 42	8.8	SMAD7, MAPK1, MAPK14, FGF2, FOS, JUN
41	actinomycin d32	7.8	SMAD7, MAPK1, MAPK14, FGF2, FOS, JUN
42	retinoic acid32 42 18	9.7	NOG, MAPK1, MAPK14, FGF2, FOS, JUN
43	pge232	7.6	GNAS, MAPK1, MAPK14, FGF2, FOS, JUN
44	cycloheximide32	7.6	NOG, SMAD7, MAPK1, MAPK14, FGF2, FOS
45	dexamethasone32 42 34 9 9	11.6	NOG, SMAD7, MAPK1, MAPK14, FGF2, FOS
46	pd 98,05932	7.5	SMAD7, SMAD1, MAPK1, MAPK14, FGF2, FOS
47	vegf32	7.4	NOG, SMAD7, ID3, MAPK1, MAPK14, FGF2
48	tyrosine32	6.6	NOG, SMAD7, SMAD1, GNAS, MAPK1, MAPK14
49	threonine32	6.5	BMP2, ACVR1, ACVR1C, SMAD5, SMAD1, GNAS
50	serine32	5.6	MAPK1, GNAS, SMAD1, SMAD5, NOG, ACVR1C

Cellular components related to fibrodysplasia ossificans progressiva according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	membrane-bounded vesicle	GO:031988	10.2	BMP2, BMP4
2	activin receptor complex	GO:048179	9.9	ACVR1, ACVR1C
3	transcription factor complex	GO:005667	8.7	MSX2, SMAD9, SMAD7, SMAD5, SMAD1, JUN
4	nucleoplasm	GO:005654	6.8	NFKB1, SMAD9, SMAD7, SMAD5, SMAD1, MAPK1
5	cytosol	GO:005829	5.6	NFKB1, SMAD9, SMAD7, SMAD5, SMAD1, GNAS

Biological processes related to fibrodysplasia ossificans progressiva according to GeneDecks:

(show top 50)    (show all 56)

id	Name	GO ID	Score	Top Affiliating Genes
1	mesenchymal cell proliferation involved in ureteric bud development	GO:072138	10.5	BMP4, BMP2
2	BMP signaling pathway involved in heart induction	GO:003130	10.4	BMP4, BMP2
3	telencephalon regionalization	GO:021978	10.4	BMP2, BMP4
4	embryonic skeletal joint morphogenesis	GO:060272	10.3	NOG, BMP4
5	osteoblast fate commitment	GO:002051	10.3	SMAD5, SMAD1
6	pathway-restricted SMAD protein phosphorylation	GO:060389	10.2	ACVR1, SMAD7, BMP2
7	regulation of odontogenesis of dentin-containing tooth	GO:042487	10.2	BMP4, BMP2
8	germ cell development	GO:007281	10.2	ACVR1, SMAD5, BMP4
9	osteoblast differentiation	GO:001649	10.2	BMP2, BMP4, MSX2, NOG
10	thyroid-stimulating hormone-secreting cell differentiation	GO:060129	10.2	FGF2, BMP2
11	corticotropin hormone secreting cell differentiation	GO:060128	10.1	FGF2, BMP2
12	pituitary gland development	GO:021983	10.1	NOG, BMPR1A, BMP4
13	mesoderm formation	GO:001707	10.1	BMPR1A, NOG, ACVR1
14	positive regulation of cartilage development	GO:061036	10.1	SMAD1, BMP4, BMP2, BMP1
15	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:010862	10.0	ACVR1, BMPR1A, BMP4, BMP2
16	activation of MAPKK activity	GO:000186	10.0	BMP4
17	positive regulation of bone mineralization	GO:030501	10.0	BMP2, BMP4, BMPR1A, ACVR1
18	Mullerian duct regression	GO:001880	10.0	BMPR1A, SMAD5, SMAD9
19	embryonic digit morphogenesis	GO:042733	10.0	BMP4, BMPR1A, NOG
20	branching involved in ureteric bud morphogenesis	GO:001658	9.9	BMP2, BMP4, FGF2
21	cellular response to organic cyclic compound	GO:071407	9.9	SMAD9, SMAD5, SMAD1, BMP2
22	regulation of activin receptor signaling pathway	GO:032925	9.9	SMAD7, FKBP1A
23	SMAD protein signal transduction	GO:060395	9.8	BMP2, BMP4, JUN, FOS
24	positive regulation of epithelial cell proliferation	GO:050679	9.8	BMP4, BMPR1A, NOG
25	wound healing	GO:042060	9.7	SDC2, FGF2, SMAD1, NOG
26	ureteric bud development	GO:001657	9.7	SMAD9, SMAD7, SMAD5, SMAD1, BMP4
27	response to mechanical stimulus	GO:009612	9.7	JUN, BMP4, BMP2
28	odontogenesis of dentin-containing tooth	GO:042475	9.7	BMPR1A, BMP4, BMP2
29	cellular response to growth factor stimulus	GO:071363	9.5	MAPK14, MSX2, BMP4, BMP2
30	positive regulation of endothelial cell proliferation	GO:001938	9.5	FGF2, JUN, BMP4, BMP2
31	protein phosphorylation	GO:006468	9.2	ACVR1, ACVR1C, SMAD9, SMAD5, SMAD1, BMPR1A
32	negative regulation of transcription from RNA polymerase II promoter	GO:000122	9.0	NFKB1, NOG, SMAD7, ID3, MSX2, ZMYND11
33	negative regulation of transcription, DNA-dependent	GO:045892	9.0	ID3, FGF2, JUN, MSX2, BMP4, BMP2
34	positive regulation of osteoblast differentiation	GO:045669	9.0	ACVR1, SMAD5, SMAD1, FGF2, MSX2, BMPR1A
35	BMP signaling pathway	GO:030509	8.9	BMP2, ACVR1, NOG, SMAD9, SMAD7, SMAD5
36	regulation of sequence-specific DNA binding transcription factor activity	GO:051090	8.8	MAPK1, MAPK14, FOS, JUN
37	negative regulation of cell proliferation	GO:008285	8.7	ACVR1C, SMAD1, FGF2, JUN, MSX2, BMP4
38	stress-activated MAPK cascade	GO:051403	8.7	JUN, FOS, MAPK14, MAPK1
39	MyD88-independent toll-like receptor signaling pathway	GO:002756	8.3	JUN, FOS, MAPK14, MAPK1, NFKB1
40	TRIF-dependent toll-like receptor signaling pathway	GO:035666	8.2	NFKB1, MAPK1, MAPK14, FOS, JUN
41	toll-like receptor 1 signaling pathway	GO:034130	8.2	NFKB1, MAPK1, MAPK14, FOS, JUN
42	toll-like receptor 3 signaling pathway	GO:034138	8.2	NFKB1, MAPK1, MAPK14, FOS, JUN
43	toll-like receptor 2 signaling pathway	GO:034134	8.2	NFKB1, MAPK1, MAPK14, FOS, JUN
44	toll-like receptor signaling pathway	GO:002224	8.2	NFKB1, MAPK1, MAPK14, FOS, JUN
45	MyD88-dependent toll-like receptor signaling pathway	GO:002755	8.2	NFKB1, MAPK1, MAPK14, FOS, JUN
46	transforming growth factor beta receptor signaling pathway	GO:007179	8.2	ACVR1, SMAD9, SMAD7, SMAD5, SMAD1, FKBP1A
47	Toll signaling pathway	GO:008063	8.2	NFKB1, MAPK1, MAPK14, FOS, JUN
48	toll-like receptor 4 signaling pathway	GO:034142	8.2	NFKB1, MAPK1, MAPK14, FOS, JUN
49	positive regulation of transcription, DNA-dependent	GO:045893	7.8	SMAD5, SMAD9, NFKB1, ACVR1, FGF2, FOS
50	positive regulation of transcription from RNA polymerase II promoter	GO:045944	7.2	ACVR1, NFKB1, NOG, SMAD7, SMAD5, SMAD1

Molecular functions related to fibrodysplasia ossificans progressiva according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	BMP receptor binding	GO:070700	10.2	BMP2, BMP4
2	activin receptor activity, type I	GO:016361	10.1	ACVR1C, ACVR1
3	transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	GO:030618	10.0	SMAD1, SMAD5, SMAD9
4	transmembrane receptor protein serine/threonine kinase activity	GO:004675	9.9	BMPR1A, ACVR1
5	activin binding	GO:048185	9.9	FKBP1A, SMAD7, ACVR1
6	SMAD binding	GO:046332	9.7	ACVR1, FKBP1A, BMPR1A, BMP2
7	transforming growth factor beta-activated receptor activity	GO:005024	9.7	ACVR1C, FKBP1A, BMPR1A
8	type I transforming growth factor beta receptor binding	GO:034713	9.6	FKBP1A, SMAD7
9	growth factor activity	GO:008083	9.4	FGF2, INHBE, BMP4, BMP2, BMP1
10	cytokine activity	GO:005125	9.4	FGF2, BMP4, BMP2, BMP1
11	transcription regulatory region DNA binding	GO:044212	8.8	MSX2, JUN, FOS, SMAD7, NFKB1
12	protein homodimerization activity	GO:042803	8.3	ACVR1, NFKB1, NOG, FGFR1OP, JUN, BMPR1A
13	sequence-specific DNA binding transcription factor activity	GO:003700	7.9	NFKB1, SMAD9, SMAD7, SMAD5, SMAD1, ID3
14	protein binding	GO:005515	4.7	FGFR1OP, MAPK14, MAPK1, SMAD1, SMAD5, SMAD7