FOP
MCID: FBR011
MIFTS: 66

Fibrodysplasia Ossificans Progressiva (FOP) malady

Bone, Skin, Fetal categories

Summaries for Fibrodysplasia Ossificans Progressiva

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 6/6/2011 references fibrodysplasia ossificans progressiva. genetic home reference. august 2007; http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva. accessed 3/16/2011. your questions answered by the genetic and rare diseases information center 1 question(s) from the public on fibrodysplasia ossificans progressiva have been answered. see questions and answers. you can also submit a new question.

MalaCards: Fibrodysplasia Ossificans Progressiva, also known as progressive myositis ossificans, is related to myositis ossificans 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 TOB in Osteoblast Signaling and Cardiac Progenitor Differentiation. The compounds cyclopamine and 6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, smooth muscle and skeletal muscle, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

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

Description from OMIM:47 135100

Aliases & Classifications for Fibrodysplasia Ossificans Progressiva

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 27ICD9CM, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Skin


Characteristics (Orphanet epidemiological data):

49
fibrodysplasia ossificans progressiva:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

fibrodysplasia ossificans progressiva 8 9 43 20 21 47 10 45 49 61
progressive myositis ossificans 8 43 22 21
myositis ossificans progressiva 8 43 21 49
progressive ossifying myositis 8 43 21
myositis ossificans 43 21 61
fop 43 49
multiple endocrine neoplasia 61
stone man syndrome 8
man of stone 49


External Ids:

Disease Ontology8 DOID:13374
ICD9CM27 728.11
MeSH35 D009221
NCIt40 C3040
OMIM47 135100
MESH via Orphanet36 D009221
ICD10 via Orphanet26 M61.1
SNOMED-CT via Orphanet58 82725007
UMLS via Orphanet62 C0016037
ICD1025 M61.1

Related Diseases for Fibrodysplasia Ossificans Progressiva

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Fibrodysplasia Ossificans Progressiva:



Diseases related to fibrodysplasia ossificans progressiva

Clinical Features for Fibrodysplasia Ossificans Progressiva

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

135100

Clinical synopsis from OMIM:

135100

Symptoms:

49 (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

Drugs & Therapeutics for Fibrodysplasia Ossificans Progressiva

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

33
Bone marrow, Smooth muscle, Skeletal muscle, Skin

Animal Models for Fibrodysplasia Ossificans Progressiva or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Fibrodysplasia Ossificans Progressiva:

37 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5NOG, MSX2, ACVR1, BMP2, BMP4, FOS
2MP:00053719.4MSX2, ACVR1, NOG, BMP2, BMP4, FOS
3MP:00020069.2ID3, FOS, BMPR1A, ACVR1, SMAD5, SMAD1
4MP:00053699.2BMP4, SMAD7, SMAD5, MSX2, ACVR1, FKBP1A
5MP:00053819.1SMAD5, ID3, ACVR1, BMP2, BMP4, BMP1
6MP:00107719.0BMP4, MSX2, SMAD7, FOS, BMPR1A, NOG
7MP:00053769.0BMPR1A, SMAD7, SMAD1, SMAD5, ACVR1, FKBP1A
8MP:00053828.9BMPR1A, BMP4, FOS, MSX2, BMP1, NOG
9MP:00053798.9SMAD1, MSX2, NOG, FOS, BMP4, ID3
10MP:00053898.8NOG, BMP4, BMP2, FOS, ID3, SMAD5
11MP:00053908.7BMP4, BMPR1A, BMP1, NOG, ACVR1, BMP2
12MP:00053858.4BMP2, BMP4, BMP1, BMPR1A, FKBP1A, NOG
13MP:00036318.4BMPR1A, FKBP1A, FOS, ID3, NOG, ACVR1
14MP:00053808.4SMAD1, BMP1, ID3, FOS, BMP2, BMPR1A
15MP:00053848.3SMAD7, SMAD1, SMAD5, ID3, FOS, BMP2
16MP:00028738.2INHBE, FKBP1A, BMP4, BMP2, BMPR1A, NOG
17MP:00053788.2SMAD7, SMAD1, ID3, FOS, BMP2, BMP4
18MP:00107687.9BMPR1A, SMAD5, MSX2, ACVR1, NOG, FKBP1A

Publications for Fibrodysplasia Ossificans Progressiva

Sources:
51PubMed
See all sources

Articles related to Fibrodysplasia Ossificans Progressiva:

(show top 50)    (show all 297)
idTitleAuthorsYear
1
ACVR1 (587T&gt;C) mutation in a variant form of fibrodysplasia ossificans progressiva: Second report. (24259422)
2014
2
Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. (20349070)
2012
3
Surgical treatment combined with NSAIDs in fibrodysplasia ossificans progressiva. (21959193)
2012
4
Genetic abnormalities in fibrodysplasia ossificans progressiva. (23229308)
2012
5
Improvement of mouth opening for a patient with fibrodysplasia ossificans progressiva: a case report. (22070362)
2011
6
Scalp nodules as a presenting sign of fibrodysplasia ossificans progressiva: a register-based study. (21055844)
2011
7
Fibrodysplasia ossificans progressiva: report of a case and review of articles. (23329927)
2011
8
Fibrodysplasia ossificans progressiva: clinical and genetic aspects. (22133093)
2011
9
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva. (19795179)
2010
10
Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. (19796185)
2010
11
A description of two surgical and anesthetic management techniques used for a patient with fibrodysplasia ossificans progressiva. (20500705)
2010
12
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
13
Skeletal metamorphosis in fibrodysplasia ossificans progressiva (FOP). (18979151)
2008
14
Optimal treatment of fibrodysplasia ossificans progressiva with surgical excision of heterotopic bone, indomethacin, and irradiation. (16919202)
2006
15
Fibrodysplasia ossificans progressiva. An unusual cause of restricted mandibular movement. (16476045)
2006
16
Jaw fixation as the key to diagnosis of fibrodysplasia ossificans progressiva. (16999320)
2006
17
A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family. (16080294)
2005
18
Consideration of Rituximab for fibrodysplasia ossificans progressiva. (15288357)
2004
19
Surgical outcome in fibrodysplasia ossificans progressiva: A case study. (17618217)
2004
20
Stromal cells of fibrodysplasia ossificans progressiva lesions express smooth muscle lineage markers and the osteogenic transcription factor Runx2/Cbfa-1: clues to a vascular origin of heterotopic ossification? (12950027)
2003
21
Bone morphogenetic protein-4 regulation in fibrodysplasia ossificans progressiva. (12616078)
2003
22
Fibrodysplasia ossificans progressiva and corneal keloid. (12352096)
2002
23
Familial fibrodysplasia ossificans progressiva: trial with etidronate disodium. (11721075)
2001
24
Conductive hearing loss in individuals with fibrodysplasia ossificans progressiva. (10499116)
1999
25
The stone man: myositis (fibrodysplasia) ossificans progressiva. (9510591)
1998
26
Pulmonary and cardiac function in advanced fibrodysplasia ossificans progressiva. (9577416)
1998
27
Fibrodysplasia ossificans progressiva why do some people have two skeletons? (19078161)
1997
28
Limb swelling in patients who have fibrodysplasia ossificans progressiva. (9060511)
1997
29
Submandibular swelling in patients with fibrodysplasia ossificans progressiva. (8643271)
1996
30
Fibrodysplasia ossificans progressiva. (9282685)
1995
31
Advanced fibrodysplasia ossificans progressiva. (7648736)
1995
32
Fibrodysplasia (myositis) ossificans progressiva. (7899873)
1994
33
Traumatic fractures of heterotopic bone in patients who have fibrodysplasia ossificans progressiva. A report of 2 cases. (7955679)
1994
34
Enchondroma in a patient with fibrodysplasia ossificans progressiva. (8358928)
1993
35
Fibrodysplasia ossificans progressiva. (2317429)
1990
36
Fibrodysplasia ossificans progressiva. (4045897)
1985
37
Case report 314. Diagnosis: juvenile dermatomyositis with changes of the hallux typical of fibrodysplasia (myositis) ossificans progressiva. (4001978)
1985
38
Fibrodysplasia ossificans progressiva presenting as fibrous scalp nodules. (6499199)
1984
39
Radiological case of the month: fibrodysplasia ossificans progressiva. (6847962)
1983
40
The cervical spine in fibrodysplasia ossificans progressiva. (6817842)
1982
41
Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. (7068725)
1982
42
Fibrodysplasia ossificans progressiva in South Africa. Case reports. (7064014)
1982
43
Fibrodysplasia ossificans progressiva: a distinctive bone-forming lesion of the soft tissue. (6944142)
1981
44
The hand and foot malformations in fibrodysplasia ossificans progressiva. (7412069)
1980
45
Fibrodysplasia ossificans progressiva. A survey of forty-two cases. (113413)
1979
46
Alkaline phosphatase activity in cultured skin fibroblasts from fibrodysplasia ossificans progressiva. (957379)
1976
47
Fibrodysplasia ossificans progressiva. (1017242)
1976
48
Fibrodysplasia ossificans progressiva. (1227548)
1975
49
Fibrodysplasia ossificans progressiva treated with diphosphonate. (1227547)
1975
50
A possible etiologic mechanism for fibrodysplasia ossificans progressiva. (4218771)
1974

Genetic Variations for Fibrodysplasia Ossificans Progressiva

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Fibrodysplasia Ossificans Progressiva:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Fibrodysplasia Ossificans Progressiva

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 38NCBI BioSystems Database, 30KEGG, 53R&D Systems, 4Cell Signaling Technology, 54Reactome, 56SinoBiological
See all sources

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

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1BMPR1A, BMP2
210.0BMP1, BMP4, NOG
310.0FKBP1A, ACVR1
410.0MSX2, BMP4, SMAD1
510.0BMPR1A, BMP4, BMP2
69.8ID3, BMP4, BMP1, BMP2
79.8BMP1, BMP4, BMP2, FOS
8
Hide members
9.8BMP2, BMP4, FOS, BMP1
99.8SMAD1, BMP2, BMP4, BMPR1A
10
Hide members
9.7BMP4, FOS, BMPR1A, BMP2
119.7SMAD1, ID3, SMAD5, BMP2
129.6BMPR1A, BMP4, BMP2, ID3, SMAD7
139.6SMAD7, SMAD5, FOS, SMAD1
149.5SMAD5, ACVR1, BMP4, SMAD1, ID3
159.5SMAD5, ACVR1, SMAD1, FKBP1A
169.4SMAD1, FKBP1A, NOG, SMAD7, BMP4
17
Hide members
9.4ACVR1C, BMP4, BMPR1A, BMP2, NOG, ACVR1
18
Hide members
9.4FOS, BMP2, BMP4, BMP1, FKBP1A
19
Hide members
9.4BMP4, BMPR1A, BMP1, ACVR1, BMP2, FOS
20
Hide members
9.4BMP4, BMPR1A, BMP1, BMP2, FOS, ACVR1
21
Hide members
9.4BMP4, BMPR1A, FOS, ACVR1, BMP1, BMP2
229.4FOS, FKBP1A, SDC2, SMAD7
239.3SMAD5, SMAD1, ACVR1, SMAD7, FKBP1A
24
Hide members
9.3BMP2, SMAD7, SMAD1, SMAD5, NOG, BMPR1A
25
Hide members
9.2ACVR1, INHBE, BMP1, BMPR1A, BMP4, BMP2
268.9ACVR1, ACVR1C, NOG, INHBE, BMPR1A, BMP4
27
Hide members
8.7NOG, SMAD7, SMAD1, ACVR1C, FKBP1A, BMPR1A
288.3INHBE, SMAD1, SMAD5, ACVR1C, ACVR1, NOG

Compounds for genes affiliated with Fibrodysplasia Ossificans Progressiva

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 50PharmGKB, 2BitterDB, 29IUPHAR, 24HMDB
See all sources

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

(show all 17)
idCompoundScoreTop Affiliating Genes
1cyclopamine45 6011.3NOG, BMP4
26-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine1110.3ACVR1, FKBP1A
3azathioprine45 50 2 1113.0NOG, BMP4, BMP2
4dopamine45 29 11 2413.0FOS, BMP2, BMP4, NOG
5retinoid4510.0NOG, BMP4, BMP2, FOS
6heparan sulfate45 2410.9BMP2, BMP4, NOG, SDC2
7ribonucleic acid459.9FOS, BMP2, BMP4, NOG
8pd 98,059459.8FOS, BMP2, BMP4, SMAD1, SMAD7
9sb 20358045 6010.8FOS, BMP2, BMP4, SMAD7
10cycloheximide459.8FOS, BMP2, BMP4, NOG, SMAD7
11oligonucleotide459.7FOS, BMP2, BMP4, ACVR1, MSX2, SMAD7
12vegf459.7ID3, FOS, BMP2, BMP4, NOG, SMAD7
13dexamethasone45 50 29 1112.6SMAD7, NOG, BMP4, BMP2, FOS
14actinomycin d459.4FOS, BMP2, BMP4, SMAD7
15calcium45 50 11 2411.8FOS, BMP2, BMP4, BMP1, FKBP1A, NOG
16threonine458.8SMAD1, FOS, BMP2, BMP4, BMPR1A, FKBP1A
17serine458.5FOS, BMP2, BMP4, BMPR1A, BMP1, FKBP1A

GO Terms for genes affiliated with Fibrodysplasia Ossificans Progressiva

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1activin receptor complexGO:04817910.1ACVR1C, ACVR1
2transcription factor complexGO:0056679.1SMAD7, SMAD1, SMAD5, MSX2, FOS

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

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1mesenchymal cell proliferation involved in ureteric bud developmentGO:07213810.5BMP2, BMP4
2BMP signaling pathway involved in heart inductionGO:00313010.5BMP2, BMP4
3telencephalon regionalizationGO:02197810.5BMP4, BMP2
4cranial suture morphogenesisGO:06036310.5BMP4, MSX2
5regulation of odontogenesis of dentin-containing toothGO:04248710.4BMP2, BMP4
6negative regulation of pathway-restricted SMAD protein phosphorylationGO:06039410.4NOG, SMAD7
7pathway-restricted SMAD protein phosphorylationGO:06038910.4BMP2, ACVR1, SMAD7
8lung morphogenesisGO:06042510.4BMP4, NOG
9osteoblast fate commitmentGO:00205110.3SMAD1, SMAD5
10pituitary gland developmentGO:02198310.3BMP4, BMPR1A, NOG
11mesoderm formationGO:00170710.3ACVR1, NOG, BMPR1A
12SMAD protein signal transductionGO:06039510.3FOS, BMP2, BMP4
13Mullerian duct regressionGO:00188010.3SMAD5, BMPR1A
14positive regulation of SMAD protein import into nucleusGO:06039110.3BMP4, BMPR1A
15embryonic digit morphogenesisGO:04273310.3BMP4, BMPR1A, NOG
16regulation of activin receptor signaling pathwayGO:03292510.3SMAD7, FKBP1A
17positive regulation of ossificationGO:04577810.3BMP4, BMP2
18positive regulation of epithelial cell proliferationGO:05067910.3NOG, BMPR1A, BMP4
19germ cell developmentGO:00728110.3SMAD5, ACVR1, BMP4
20positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:190152210.2BMP2, SMAD5, SMAD1
21positive regulation of pathway-restricted SMAD protein phosphorylationGO:01086210.2BMP2, BMP4, BMPR1A, ACVR1
22positive regulation of bone mineralizationGO:03050110.2ACVR1, BMPR1A, BMP4, BMP2
23positive regulation of cartilage developmentGO:06103610.2SMAD1, BMP1, BMP4, BMP2
24odontogenesis of dentin-containing toothGO:04247510.2BMPR1A, BMP4, BMP2
25embryonic skeletal joint morphogenesisGO:06027210.2BMP4, NOG
26SMAD protein complex assemblyGO:00718310.2SMAD1, FKBP1A
27cellular response to BMP stimulusGO:07177310.1SMAD1, SMAD5, NOG, BMP2
28wound healingGO:04206010.1NOG, SMAD1, SDC2
29telencephalon developmentGO:02153710.1BMP4, BMP2
30ureteric bud developmentGO:00165710.1SMAD7, SMAD1, SMAD5, BMP4
31in utero embryonic developmentGO:00170110.0BMP2, BMPR1A, NOG, ACVR1
32cartilage developmentGO:05121610.0SMAD1, SMAD5, NOG, BMPR1A
33osteoblast differentiationGO:00164910.0BMP2, BMP4, NOG, MSX2, TMEM119
34positive regulation of apoptotic processGO:04306510.0ID3, BMP2, BMP4, MSX2
35negative regulation of cell proliferationGO:0082859.8SMAD1, MSX2, BMP4, BMP2
36extracellular matrix organizationGO:0301989.7SDC2, BMP1, BMP4, BMP2
37negative regulation of transcription from RNA polymerase II promoterGO:0001229.7ID3, BMP2, BMP4, ZMYND11, NOG, MSX2
38skeletal system developmentGO:0015019.7BMP2, BMP1, NOG
39positive regulation of transcription, DNA-dependentGO:0458939.7FOS, BMP2, BMP4, BMPR1A, ACVR1, SMAD5
40protein phosphorylationGO:0064689.7BMP2, BMPR1A, ACVR1, ACVR1C, SMAD5, SMAD1
41positive regulation of transcription from RNA polymerase II promoterGO:0459449.6FOS, BMP2, BMP4, NOG, ACVR1, SMAD1
42positive regulation of osteoblast differentiationGO:0456699.6BMP2, BMP4, BMPR1A, ACVR1, MSX2, SMAD5
43BMP signaling pathwayGO:0305099.4SMAD7, BMP2, BMP4, BMPR1A, NOG, ACVR1
44transforming growth factor beta receptor signaling pathwayGO:0071799.3FOS, BMPR1A, FKBP1A, ACVR1, SMAD5, SMAD1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1activin receptor activity, type IGO:01636110.3ACVR1C, ACVR1
2BMP receptor bindingGO:07070010.2BMP4, BMP2
3I-SMAD bindingGO:07041110.1SMAD7, SMAD1
4transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activityGO:03061810.1SMAD1, SMAD5
5activin bindingGO:04818510.0SMAD7, ACVR1, FKBP1A
6transforming growth factor beta-activated receptor activityGO:0050249.9BMPR1A, FKBP1A, ACVR1C
7growth factor activityGO:0080839.9BMP2, BMP4, BMP1, INHBE
8SMAD bindingGO:0463329.9ACVR1, FKBP1A, BMPR1A, BMP2
9type I transforming growth factor beta receptor bindingGO:0347139.8FKBP1A, SMAD7
10transmembrane receptor protein serine/threonine kinase activityGO:0046759.8ACVR1, BMPR1A
11protein bindingGO:0055157.6FOS, BMP2, BMP4, BMPR1A, ZMYND11, FKBP1A

Products for genes affiliated with Fibrodysplasia Ossificans Progressiva

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Sources for Fibrodysplasia Ossificans Progressiva

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet