FOP
MCID: FBR011
MIFTS: 70

Fibrodysplasia Ossificans Progressiva (FOP) malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Fibrodysplasia Ossificans Progressiva

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NIH Rare Diseases:42 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 based summary: Fibrodysplasia Ossificans Progressiva, also known as progressive myositis ossificans, is related to osteochondroma and ankylosis, and has symptoms including anomalies of spine, vertebrae and pelvis, rigid spine and big toe anomaly (excluding absence). 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:8 .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:21 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:65 Fibrodysplasia ossificans progressiva (FOP), sometimes referred to as Stone Man Syndrome, is an... more...

Description from OMIM:46 135100

Aliases & Classifications for Fibrodysplasia Ossificans Progressiva

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 62UMLS, 8Disease Ontology, 9diseasecard, 20GeneTests, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 57SNOMED-CT, 34MeSH, 27ICD9CM, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Fibrodysplasia Ossificans Progressiva, Aliases & Descriptions:

Name: Fibrodysplasia Ossificans Progressiva 8 9 42 20 21 46 10 44 48 62
Progressive Myositis Ossificans 8 42 22 21
Myositis Ossificans Progressiva 8 42 21 48
Progressive Ossifying Myositis 8 42 21
 
Myositis Ossificans 42 21 62
Stone Man Syndrome 8 48
Fop 42 48
Multiple Endocrine Neoplasia 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
fibrodysplasia ossificans progressiva:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Any age


External Ids:

Disease Ontology8 DOID:13374
MeSH34 D009221
ICD9CM27 728.11
OMIM46 135100
NCIt39 C3040
MESH via Orphanet35 D009221
ICD10 via Orphanet26 M61.1
UMLS via Orphanet63 C0016037
ICD1025 M61.1

Related Diseases for Fibrodysplasia Ossificans Progressiva

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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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Symptoms by clinical synopsis from OMIM:

135100

Clinical features from OMIM:

135100

Symptoms:

48 (show all 21)
  • anomalies of spine, vertebrae and pelvis
  • 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
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • 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

HPO human phenotypes related to Fibrodysplasia Ossificans Progressiva:

(show all 37)
id Description Frequency HPO Source Accession
1 abnormality of the skin hallmark (90%) HP:0000951
2 limitation of joint mobility hallmark (90%) HP:0001376
3 spinal rigidity hallmark (90%) HP:0003306
4 short hallux hallmark (90%) HP:0010109
5 ectopic calcification hallmark (90%) HP:0010766
6 hearing impairment typical (50%) HP:0000365
7 respiratory insufficiency typical (50%) HP:0002093
8 clinodactyly of the 5th finger typical (50%) HP:0004209
9 aplasia/hypoplasia of the thumb typical (50%) HP:0009601
10 abnormal hair quantity typical (50%) HP:0011362
11 glaucoma occasional (7.5%) HP:0000501
12 seizures occasional (7.5%) HP:0001250
13 hallux valgus occasional (7.5%) HP:0001822
14 anemia occasional (7.5%) HP:0001903
15 synostosis of joints occasional (7.5%) HP:0100240
16 cognitive impairment occasional (7.5%) HP:0100543
17 intellectual disability 6% HP:0001249
18 autosomal dominant inheritance HP:0000006
19 conductive hearing impairment HP:0000405
20 sensorineural hearing impairment HP:0000407
21 widely spaced teeth HP:0000687
22 alopecia HP:0001596
23 hallux valgus HP:0001822
24 respiratory insufficiency HP:0002093
25 scoliosis HP:0002650
26 respiratory failure HP:0002878
27 metaphyseal widening HP:0003016
28 clinodactyly of the 5th finger HP:0004209
29 small cervical vertebral bodies HP:0004629
30 broad femoral neck HP:0006429
31 progressive cervical vertebral spine fusion HP:0008449
32 short 1st metacarpal HP:0010034
33 abnormality of the first metatarsal HP:0010054
34 short hallux HP:0010109
35 ectopic ossification in muscle tissue HP:0011987
36 ectopic ossification in tendon tissue HP:0011988
37 ectopic ossification in ligament tissue HP:0011989

Drugs & Therapeutics for Fibrodysplasia Ossificans Progressiva

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Drug clinical trials:

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Search NIH Clinical Center for Fibrodysplasia Ossificans Progressiva

Genetic Tests for Fibrodysplasia Ossificans Progressiva

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Genetic tests related to Fibrodysplasia Ossificans Progressiva:

id Genetic test Affiliating Genes
1 Fibrodysplasia Ossificans Progressiva20 ACVR1
2 Progressive Myositis Ossificans22

Anatomical Context for Fibrodysplasia Ossificans Progressiva

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MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

32
Bone, Skeletal muscle, Skin, Lung, Bone marrow, Smooth muscle

Animal Models for Fibrodysplasia Ossificans Progressiva or affiliated genes

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MGI Mouse Phenotypes related to Fibrodysplasia Ossificans Progressiva:

36 (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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Articles related to Fibrodysplasia Ossificans Progressiva:

(show top 50)    (show all 299)
idTitleAuthorsYear
1
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant. (24852373)
2014
2
Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trial. (24131551)
2013
3
An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva. (23653868)
2013
4
Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. (20349070)
2012
5
Fibrodysplasia ossificans progressiva: a human genetic disorder of extraskeletal bone formation, or--how does one tissue become another? (22408652)
2012
6
Surgical treatment combined with NSAIDs in fibrodysplasia ossificans progressiva. (21959193)
2012
7
The danger of biopsy in fibrodysplasia ossificans progressiva. (22447993)
2012
8
Fibrodysplasia ossificans progressiva: anesthetic management in complex orthopedic spine procedures. (22050800)
2011
9
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
10
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
11
Fibrodysplasia ossificans progressiva (FOP): watch the great toes! (20577760)
2010
12
Osteochondral diseases and fibrodysplasia ossificans progressiva. (20824454)
2010
13
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. (18684712)
2009
14
Fibrodysplasia ossificans progressiva in a Maine Coon cat with prominent ossification in dorsal muscle. (20046034)
2009
15
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
16
Submandibular space swelling in a patient with fibrodysplasia ossificans progressiva: a diagnostic dilemma. (19231799)
2009
17
When one skeleton is enough: approaches and strategies for the treatment of fibrodysplasia ossificans progressiva (FOP). (23599718)
2008
18
Lumbar puncture and surgical intervention in a child with undiagnosed fibrodysplasia ossificans progressiva. (18352811)
2008
19
Radiotherapy for management of skin cancers in fibrodysplasia ossificans progressiva: a case report and review of the literature. (18417900)
2008
20
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
21
Fibrodysplasia ossificans progressiva seen on three-dimensional computed tomography. (18163494)
2008
22
HSPG modulation of BMP signaling in fibrodysplasia ossificans progressiva cells. (17516498)
2007
23
Radiologic findings in seven patients with fibrodysplasia ossificans progressiva. (17198460)
2007
24
Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP). (18019378)
2007
25
Optimal treatment of fibrodysplasia ossificans progressiva with surgical excision of heterotopic bone, indomethacin, and irradiation. (16919202)
2006
26
Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA. (15940369)
2005
27
Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. (16230464)
2005
28
Anesthetic management in fibrodysplasia ossificans progressiva (FOP): a case report. (12770658)
2003
29
Fibrodysplasia ossificans progressiva and corneal keloid. (12352096)
2002
30
Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva. (11977169)
2002
31
Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. (11503156)
2001
32
Question: Bone marrow transplant for fibrodysplasia ossificans progressiva: has the hour arrived? (11716421)
2001
33
Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. (10631143)
2000
34
Fibrodysplasia ossificans progressiva: report of two cases. (11138342)
2000
35
Unusual ankylosis of the jaw due to fibrodysplasia ossificans progressiva. (10560885)
1999
36
A 3 year old girl with fibrodysplasia ossificans progressiva. (10646326)
1999
37
The stone man: myositis (fibrodysplasia) ossificans progressiva. (9510591)
1998
38
Fibrodysplasia ossificans progressiva why do some people have two skeletons? (19078161)
1997
39
Fibrodysplasia ossificans progressiva -- lessons from rare maladies. (8678940)
1996
40
Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. (8678932)
1996
41
Ultrastructural finding of vascular degeneration in fibrodysplasia ossificans progressiva (FOP). (7776264)
1995
42
Radiographic and scintigraphic features of modeling and remodeling in the heterotopic skeleton of patients who have fibrodysplasia ossificans progressiva. (8020223)
1994
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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UniProtKB/Swiss-Prot genetic disease variations for Fibrodysplasia Ossificans Progressiva:

64
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:

6
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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Expression patterns in normal tissues for genes affiliated with Fibrodysplasia Ossificans Progressiva

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Pathways for genes affiliated with Fibrodysplasia Ossificans Progressiva

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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
19.5BMP4, ACVR1
29.3NOG, BMP4
3
Show member pathways
9.1BMP4, BMP2
49.1BMP4, BMP2
59.1BMP2, BMP4
69.1BMP4, BMP2
79.1BMP4, BMP2
8
Show member pathways
9.1BMP4, BMP2
99.1BMP2, FOS
10
Show member pathways
BMP receptor signaling37
BMP signalling and regulation37
BMP Signalling Pathway37
9.0NOG, BMP2
118.8NOG, BMP4, FOS
12
Show member pathways
8.6BMP4, BMP2, FOS
13
Show member pathways
8.6FOS, BMP2, BMP4
14
Show member pathways
8.6FOS, BMP2, BMP4
15
Show member pathways
8.6FOS, BMP2, BMP4
16
Show member pathways
8.6FOS, BMP2, BMP4
178.6FOS, BMP2, BMP4
18
Show member pathways
8.6BMP4, BMP2, FOS
198.6BMP4, BMP2, FOS
20
Show member pathways
8.2FOS, ACVR1, BMP2, BMP4
21
Show member pathways
8.2FOS, ACVR1, BMP2, BMP4
22
Show member pathways
8.2FOS, ACVR1, BMP2, BMP4
23
Show member pathways
8.2FOS, ACVR1, BMP2, BMP4
24
Show member pathways
8.2FOS, ACVR1, BMP2, BMP4
258.1ACVR1, BMP2, BMP4, NOG
26
Show member pathways
8.1ACVR1, BMP2, BMP4, NOG
27
Show member pathways
8.1NOG, BMP4, BMP2, ACVR1

Compounds for genes affiliated with Fibrodysplasia Ossificans Progressiva

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Compounds related to Fibrodysplasia Ossificans Progressiva according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1cyclopamine44 6110.7NOG, BMP4
2dbc-amp449.6BMP4, FOS
3gp 130449.5FOS, BMP4
4titanium449.4BMP4, BMP2
5deoxyribonucleic acid449.3BMP2, BMP4
6guanidine hydrochloride449.3BMP4, BMP2
7tgf beta1449.1BMP4, BMP2
8calcitriol44 61 24 1112.1BMP2, FOS
9sb 20358044 619.9BMP4, BMP2, FOS
10pd 98,059448.9FOS, BMP2, BMP4
11actinomycin d448.9FOS, BMP2, BMP4
12simvastatin44 50 61 28 24 1113.9BMP2, ACVR1
13forskolin44 50 1110.9BMP4, BMP2, FOS
14azathioprine44 2 50 1111.9NOG, BMP4, BMP2
15pge2448.9FOS, BMP2, BMP4
16thymidine44 249.9BMP4, BMP2, FOS
17heparan sulfate44 249.9NOG, BMP4, BMP2
18heparin44 28 24 1111.7NOG, BMP4, BMP2
19estrogen448.7BMP4, BMP2, FOS
20oligonucleotide448.5FOS, ACVR1, BMP2, BMP4
21threonine448.5FOS, ACVR1, BMP2, BMP4
22cysteine448.4BMP2, BMP4, NOG
23retinoid448.4NOG, BMP4, BMP2, FOS
24ribonucleic acid448.4FOS, BMP2, BMP4, NOG
25dopamine44 28 24 1111.4NOG, BMP4, BMP2, FOS
26cycloheximide448.4FOS, BMP2, BMP4, NOG
27dexamethasone44 50 28 1111.4NOG, BMP4, BMP2, FOS
28vegf448.3FOS, BMP2, BMP4, NOG
29retinoic acid44 249.3FOS, BMP2, BMP4, NOG
30tyrosine448.2FOS, BMP2, BMP4, NOG
31serine447.9FOS, ACVR1, BMP2, BMP4, NOG
32calcium44 50 24 1110.9FOS, ACVR1, BMP2, BMP4, NOG

GO Terms for genes affiliated with Fibrodysplasia Ossificans Progressiva

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet