FOP
MCID: FBR011
MIFTS: 69

Fibrodysplasia Ossificans Progressiva (FOP) malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Fibrodysplasia Ossificans Progressiva

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Fibrodysplasia ossificans progressiva (fop) is a disorder in which skeletal 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) that restricts 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 born with abnormal big toes (hallux valgus) which can be helpful in making the diagnosis. trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation (myositis). these flareups lasts for several days to months and often result in permanent bone growth in the injured area. fop almost always caused by a mutation at the same place in the acvr1 gene and is inherited in an autosomal dominant manner. this condition occurs in about 1 in 1,600,000 newborns and about 800 people worldwide are known to have fop. last updated: 6/5/2014

MalaCards: Fibrodysplasia Ossificans Progressiva, also known as progressive myositis ossificans, is related to osteochondroma and ankylosis, and has symptoms including glaucoma, hallux valgus and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Fibrodysplasia Ossificans Progressiva is ACVR1 (activin A receptor, type I), and among its related pathways are TGF-beta/Smad Signaling and Cardiac Progenitor Differentiation. The compounds cyclopamine and dbc-amp have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and skin, and related mouse phenotypes are digestive/alimentary and cardiovascular system.

Disease Ontology:9 .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.

Genetics Home Reference:22 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.

Wikipedia:66 Fibrodysplasia ossificans progressiva (FOP), sometimes referred to as Stone Man Syndrome, is an... more...

Description from OMIM:48 135100

Aliases & Classifications for Fibrodysplasia Ossificans Progressiva

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 28ICD9CM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
fibrodysplasia ossificans progressiva:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

fibrodysplasia ossificans progressiva 9 10 44 21 22 48 11 46 50 63
progressive myositis ossificans 9 44 23 22
myositis ossificans progressiva 9 44 22 50
progressive ossifying myositis 9 44 22
myositis ossificans 44 22 63
stone man syndrome 9 50
fop 44 50
multiple endocrine neoplasia 63


External Ids:

Disease Ontology9 DOID:13374
MeSH36 D009221
OMIM48 135100
NCIt41 C3040
ICD9CM28 728.11
MESH via Orphanet37 D009221
ICD10 via Orphanet27 M61.1
SNOMED-CT via Orphanet60 82725007
UMLS via Orphanet64 C0016037
ICD1026 M61.1

Related Diseases for Fibrodysplasia Ossificans Progressiva

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Fibrodysplasia Ossificans Progressiva:



Diseases related to fibrodysplasia ossificans progressiva

Symptoms for Fibrodysplasia Ossificans Progressiva

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

135100

Clinical features from OMIM:

135100

Symptoms:

50 (show all 21)
  • glaucoma
  • hallux valgus
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • synostosis
  • anaemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • rigid spine
  • big toe anomaly (excluding absence)
  • short big toe
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • muscle ossification
  • anomalies of cartilages, joints and periarticular tissue
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • hearing loss/hypoacusia/deafness
  • clinodactyly of fifth finger
  • thumb hypoplasia/aplasia/absence
  • anomalies of spine, vertebrae and pelvis

Drugs & Therapeutics for Fibrodysplasia Ossificans Progressiva

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Fibrodysplasia Ossificans Progressiva

Drug clinical trials:

Search ClinicalTrials for Fibrodysplasia Ossificans Progressiva

Search NIH Clinical Center for Fibrodysplasia Ossificans Progressiva

Search CenterWatch for Fibrodysplasia Ossificans Progressiva

Genetic Tests for Fibrodysplasia Ossificans Progressiva

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21GeneTests, 23GTR
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Genetic tests related to Fibrodysplasia Ossificans Progressiva:

id Genetic test Affiliating Genes
1 Fibrodysplasia Ossificans Progressiva21 ACVR1
2 Progressive Myositis Ossificans23

Anatomical Context for Fibrodysplasia Ossificans Progressiva

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34MalaCards
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MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

34
Bone, Skeletal muscle, Skin, Lung, Bone marrow

Animal Models for Fibrodysplasia Ossificans Progressiva or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Fibrodysplasia Ossificans Progressiva:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.2ACVR1, BMP2, BMP4, NOG
2MP:00053858.1NOG, BMP4, BMP2, ACVR1
3MP:00028737.9NOG, BMP4, BMP2, FOS
4MP:00053777.8NOG, BMP4, BMP2, ACVR1, FOS
5MP:00053717.8FOS, ACVR1, BMP2, BMP4, NOG
6MP:00053827.8NOG, BMP4, BMP2, ACVR1, FOS
7MP:00053907.8FOS, ACVR1, BMP2, BMP4, NOG
8MP:00053807.8NOG, BMP4, BMP2, ACVR1, FOS
9MP:00053847.7FOS, ACVR1, BMP2, BMP4, NOG
10MP:00036317.7FOS, ACVR1, BMP2, BMP4, NOG
11MP:00053897.7FOS, BMP2, BMP4, NOG
12MP:00053787.7NOG, BMP4, BMP2, ACVR1, FOS
13MP:00053767.6NOG, BMP4, BMP2, ACVR1, FOS
14MP:00107687.5FOS, ACVR1, BMP2, BMP4, NOG

Publications for Fibrodysplasia Ossificans Progressiva

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53PubMed
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Articles related to Fibrodysplasia Ossificans Progressiva:

(show top 50)    (show all 285)
idTitleAuthorsYear
1
Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trial. (24131551)
2013
2
An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva. (23653868)
2013
3
Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. (20349070)
2012
4
Fibrodysplasia ossificans progressiva: a human genetic disorder of extraskeletal bone formation, or--how does one tissue become another? (22408652)
2012
5
Surgical treatment combined with NSAIDs in fibrodysplasia ossificans progressiva. (21959193)
2012
6
The danger of biopsy in fibrodysplasia ossificans progressiva. (22447993)
2012
7
Fibrodysplasia ossificans progressiva: anesthetic management in complex orthopedic spine procedures. (22050800)
2011
8
A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date. (21044902)
2011
9
ALK2 R206H mutation linked to fibrodysplasia ossificans progressiva confers constitutive activity to the BMP type I receptor and sensitizes mesenchymal cells to BMP-induced osteoblast differentiation and bone formation. (19929436)
2010
10
Fibrodysplasia ossificans progressiva (FOP): watch the great toes! (20577760)
2010
11
Osteochondral diseases and fibrodysplasia ossificans progressiva. (20824454)
2010
12
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. (18684712)
2009
13
Fibrodysplasia ossificans progressiva in a Maine Coon cat with prominent ossification in dorsal muscle. (20046034)
2009
14
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)
2009
15
Submandibular space swelling in a patient with fibrodysplasia ossificans progressiva: a diagnostic dilemma. (19231799)
2009
16
When one skeleton is enough: approaches and strategies for the treatment of fibrodysplasia ossificans progressiva (FOP). (23599718)
2008
17
Lumbar puncture and surgical intervention in a child with undiagnosed fibrodysplasia ossificans progressiva. (18352811)
2008
18
Radiotherapy for management of skin cancers in fibrodysplasia ossificans progressiva: a case report and review of the literature. (18417900)
2008
19
Response to &quot;Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)&quot; by Lucotte et al. (18990993)
2008
20
Fibrodysplasia ossificans progressiva seen on three-dimensional computed tomography. (18163494)
2008
21
HSPG modulation of BMP signaling in fibrodysplasia ossificans progressiva cells. (17516498)
2007
22
Radiologic findings in seven patients with fibrodysplasia ossificans progressiva. (17198460)
2007
23
Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP). (18019378)
2007
24
Optimal treatment of fibrodysplasia ossificans progressiva with surgical excision of heterotopic bone, indomethacin, and irradiation. (16919202)
2006
25
Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA. (15940369)
2005
26
Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. (16230464)
2005
27
Anesthetic management in fibrodysplasia ossificans progressiva (FOP): a case report. (12770658)
2003
28
Fibrodysplasia ossificans progressiva and corneal keloid. (12352096)
2002
29
Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva. (11977169)
2002
30
Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. (11503156)
2001
31
Question: Bone marrow transplant for fibrodysplasia ossificans progressiva: has the hour arrived? (11716421)
2001
32
Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. (10631143)
2000
33
Fibrodysplasia ossificans progressiva: report of two cases. (11138342)
2000
34
Unusual ankylosis of the jaw due to fibrodysplasia ossificans progressiva. (10560885)
1999
35
A 3 year old girl with fibrodysplasia ossificans progressiva. (10646326)
1999
36
The stone man: myositis (fibrodysplasia) ossificans progressiva. (9510591)
1998
37
Fibrodysplasia ossificans progressiva why do some people have two skeletons? (19078161)
1997
38
Fibrodysplasia ossificans progressiva -- lessons from rare maladies. (8678940)
1996
39
Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. (8678932)
1996
40
Ultrastructural finding of vascular degeneration in fibrodysplasia ossificans progressiva (FOP). (7776264)
1995
41
Radiographic and scintigraphic features of modeling and remodeling in the heterotopic skeleton of patients who have fibrodysplasia ossificans progressiva. (8020223)
1994
42
A three generation family with fibrodysplasia ossificans progressiva. (8411056)
1993
43
A remarkable transport device for a fibrodysplasia ossificans progressiva patient. (1584646)
1992
44
MR imaging of early fibrodysplasia ossificans progressiva. (2312870)
1990
45
Fibrodysplasia ossificans progressiva. An 11-year-old boy treated with a diphosphonate. (2124774)
1990
46
Fibrodysplasia ossificans progressiva. (4045897)
1985
47
Radiological case of the month: fibrodysplasia ossificans progressiva. (6847962)
1983
48
Fibrodysplasia ossificans progressiva. (6981979)
1982
49
Elevated prostaglandin production in cultured cells from a patient with fibrodysplasia ossificans progressiva. (415337)
1978
50
Fibrodysplasia ossificans progressiva (FOP) treated with diphosphonate. (4218791)
1974

Variations for Fibrodysplasia Ossificans Progressiva

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Fibrodysplasia Ossificans Progressiva:

65
id Symbol AA change Variation ID SNP ID
1ACVR1p.Arg206HisVAR_028444
2ACVR1p.Arg202IleVAR_058419
3ACVR1p.Gln207GluVAR_058420
4ACVR1p.Gly328GluVAR_058421
5ACVR1p.Gly328ArgVAR_058422
6ACVR1p.Gly328TrpVAR_058423
7ACVR1p.Gly356AspVAR_058424
8ACVR1p.Arg375ProVAR_058425

Clinvar genetic disease variations for Fibrodysplasia Ossificans Progressiva:

1
id Gene Name Type Significance SNP ID Assembly Location
1ACVR1NM_001105.4(ACVR1): c.617G> A (p.Arg206His)single nucleotide variantPathogenicrs121912678GRCh37Chr 2, 158630626: 158630626
2ACVR1NM_001105.4(ACVR1): c.1067G> A (p.Gly356Asp)single nucleotide variantPathogenicrs121912679GRCh37Chr 2, 158617589: 158617589
3ACVR1NM_001105.4(ACVR1): c.774G> C (p.Arg258Ser)single nucleotide variantPathogenicrs121912680GRCh37Chr 2, 158626896: 158626896
4ACVR1ACVR1, GLY328ARG, 982G-Asingle nucleotide variantPathogenic
5ACVR1NM_001105.4(ACVR1): c.982G> T (p.Gly328Trp)single nucleotide variantPathogenicrs387906588GRCh37Chr 2, 158622517: 158622517
6ACVR1NM_001105.4(ACVR1): c.983G> A (p.Gly328Glu)single nucleotide variantPathogenicrs387906589GRCh37Chr 2, 158622516: 158622516
7ACVR1NM_001105.4(ACVR1): c.1124G> C (p.Arg375Pro)single nucleotide variantPathogenicrs387906590GRCh37Chr 2, 158617532: 158617532
8ACVR1NM_001105.4(ACVR1): c.605G> T (p.Arg202Ile)single nucleotide variantPathogenicrs387906591GRCh37Chr 2, 158630638: 158630638

Expression for genes affiliated with Fibrodysplasia Ossificans Progressiva

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fibrodysplasia Ossificans Progressiva

Search GEO for disease gene expression data for Fibrodysplasia Ossificans Progressiva.

Pathways for genes affiliated with Fibrodysplasia Ossificans Progressiva

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51PathCards, 5Cell Signaling Technology, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 31KEGG, 58SinoBiological
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Pathways related to Fibrodysplasia Ossificans Progressiva according to GeneCards/GeneDecks:

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ACVR1, BMP4
29.3BMP4, NOG
3
Show member pathways
9.1BMP4, BMP2
49.1BMP4, BMP2
59.1BMP2, BMP4
69.1BMP2, BMP4
79.1BMP4, BMP2
8
Show member pathways
9.1BMP2, BMP4
99.1BMP2, FOS
10
Show member pathways
BMP receptor signaling39
BMP signalling and regulation39
BMP Signalling Pathway39
9.0BMP2, NOG
118.8NOG, BMP4, FOS
12
Show member pathways
8.6BMP4, FOS, BMP2
13
Show member pathways
8.6FOS, BMP2, BMP4
14
Show member pathways
8.6BMP2, FOS, BMP4
15
Show member pathways
8.6BMP4, FOS, BMP2
16
Show member pathways
8.6BMP4, BMP2, FOS
178.6BMP2, BMP4, FOS
18
Show member pathways
8.6BMP4, FOS, BMP2
198.6BMP2, FOS, BMP4
20
Show member pathways
8.2ACVR1, BMP4, FOS, BMP2
21
Show member pathways
8.2ACVR1, FOS, BMP2, BMP4
22
Show member pathways
8.2BMP4, FOS, ACVR1, BMP2
23
Show member pathways
8.2BMP4, ACVR1, FOS, BMP2
24
Show member pathways
8.2ACVR1, BMP2, BMP4, FOS
258.1ACVR1, BMP4, NOG, BMP2
26
Show member pathways
8.1BMP2, ACVR1, BMP4, NOG
27
Show member pathways
8.1ACVR1, BMP2, BMP4, NOG

Compounds for genes affiliated with Fibrodysplasia Ossificans Progressiva

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46Novoseek, 62Tocris Bioscience, 25HMDB, 12DrugBank, 52PharmGKB, 30IUPHAR, 3BitterDB
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Compounds related to Fibrodysplasia Ossificans Progressiva according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1cyclopamine46 6210.7NOG, BMP4
2dbc-amp469.6BMP4, FOS
3gp 130469.5FOS, BMP4
4titanium469.4BMP4, BMP2
5deoxyribonucleic acid469.3BMP2, BMP4
6guanidine hydrochloride469.3BMP4, BMP2
7tgf beta1469.1BMP4, BMP2
8calcitriol46 62 25 1212.1BMP2, FOS
9sb 20358046 629.9BMP4, BMP2, FOS
10pd 98,059468.9FOS, BMP2, BMP4
11actinomycin d468.9FOS, BMP2, BMP4
12simvastatin46 52 62 30 25 1213.9BMP2, ACVR1
13forskolin46 52 1210.9BMP4, BMP2, FOS
14azathioprine46 3 52 1211.9NOG, BMP4, BMP2
15pge2468.9FOS, BMP2, BMP4
16thymidine46 259.9BMP4, BMP2, FOS
17heparan sulfate46 259.9NOG, BMP4, BMP2
18heparin46 30 25 1211.7NOG, BMP4, BMP2
19estrogen468.7BMP4, BMP2, FOS
20oligonucleotide468.5FOS, ACVR1, BMP2, BMP4
21threonine468.5FOS, ACVR1, BMP2, BMP4
22cysteine468.4BMP2, BMP4, NOG
23retinoid468.4NOG, BMP4, BMP2, FOS
24ribonucleic acid468.4FOS, BMP2, BMP4, NOG
25dopamine46 30 25 1211.4NOG, BMP4, BMP2, FOS
26cycloheximide468.4FOS, BMP2, BMP4, NOG
27dexamethasone46 52 30 1211.4NOG, BMP4, BMP2, FOS
28vegf468.3FOS, BMP2, BMP4, NOG
29retinoic acid46 259.3FOS, BMP2, BMP4, NOG
30tyrosine468.2FOS, BMP2, BMP4, NOG
31serine467.9FOS, ACVR1, BMP2, BMP4, NOG
32calcium46 52 25 1210.9FOS, ACVR1, BMP2, BMP4, NOG

GO Terms for genes affiliated with Fibrodysplasia Ossificans Progressiva

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17Gene Ontology
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Cellular components related to Fibrodysplasia Ossificans Progressiva according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.5NOG, BMP4, BMP2

Biological processes related to Fibrodysplasia Ossificans Progressiva according to GeneCards/GeneDecks:

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1germ cell developmentGO:0072819.8ACVR1, BMP4
2mesoderm formationGO:0017079.7NOG, ACVR1
3lung morphogenesisGO:0604259.7NOG, BMP4
4embryonic skeletal joint morphogenesisGO:0602729.7BMP4, NOG
5pituitary gland developmentGO:0219839.7BMP4, NOG
6embryonic digit morphogenesisGO:0427339.6BMP4, NOG
7positive regulation of epithelial cell proliferationGO:0506799.6BMP4, NOG
8pathway-restricted SMAD protein phosphorylationGO:0603899.6BMP2, ACVR1
9BMP signaling pathway involved in heart inductionGO:0031309.5BMP4, BMP2
10mesenchymal cell proliferation involved in ureteric bud developmentGO:0721389.5BMP4, BMP2
11telencephalon regionalizationGO:0219789.5BMP4, BMP2
12regulation of odontogenesis of dentin-containing toothGO:0424879.5BMP2, BMP4
13positive regulation of cartilage developmentGO:0610369.5BMP4, BMP2
14positive regulation of ossificationGO:0457789.5BMP4, BMP2
15neural tube closureGO:0018439.5NOG, BMP4
16telencephalon developmentGO:0215379.5BMP4, BMP2
17chondrocyte differentiationGO:0020629.4BMP4, BMP2
18negative regulation of cell cycleGO:0457869.4BMP4, BMP2
19branching involved in ureteric bud morphogenesisGO:0016589.4BMP4, BMP2
20cellular response to BMP stimulusGO:0717739.4NOG, BMP2
21odontogenesis of dentin-containing toothGO:0424759.4BMP4, BMP2
22epithelial to mesenchymal transitionGO:0018379.3NOG, BMP2
23positive regulation of endothelial cell proliferationGO:0019389.3BMP4, BMP2
24positive regulation of neuron differentiationGO:0456669.2BMP2, BMP4
25transforming growth factor beta receptor signaling pathwayGO:0071799.2ACVR1, FOS
26positive regulation of ERK1 and ERK2 cascadeGO:0703749.1BMP4, BMP2
27negative regulation of canonical Wnt signaling pathwayGO:0900909.1NOG, BMP2
28positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.1BMP4, BMP2, ACVR1
29positive regulation of bone mineralizationGO:0305019.1ACVR1, BMP2, BMP4
30positive regulation of osteoblast differentiationGO:0456699.1ACVR1, BMP2, BMP4
31positive regulation of protein phosphorylationGO:0019349.0BMP2, BMP4
32skeletal system developmentGO:0015019.0NOG, BMP2
33SMAD protein signal transductionGO:0603959.0BMP4, BMP2, FOS
34in utero embryonic developmentGO:0017018.9ACVR1, BMP2, NOG
35osteoblast differentiationGO:0016498.9NOG, BMP4, BMP2
36negative regulation of transcription from RNA polymerase II promoterGO:0001228.7BMP2, BMP4, NOG
37positive regulation of transcription, DNA-templatedGO:0458938.5FOS, ACVR1, BMP2, BMP4
38BMP signaling pathwayGO:0305098.5NOG, BMP4, BMP2, ACVR1
39positive regulation of transcription from RNA polymerase II promoterGO:0459447.9FOS, ACVR1, BMP2, BMP4, NOG

Molecular functions related to Fibrodysplasia Ossificans Progressiva according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BMP receptor bindingGO:0707009.2BMP4, BMP2
2SMAD bindingGO:0463329.2BMP2, ACVR1
3cytokine activityGO:0051259.1BMP4, BMP2
4growth factor activityGO:0080838.8BMP4, BMP2
5protein bindingGO:0055157.4FOS, ACVR1, BMP2, BMP4, NOG

Products for genes affiliated with Fibrodysplasia Ossificans Progressiva

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Sources for Fibrodysplasia Ossificans Progressiva

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet