FOP
MCID: FBR011
MIFTS: 75

Fibrodysplasia Ossificans Progressiva (FOP) malady

Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Fibrodysplasia Ossificans Progressiva

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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. genetics 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 hallux valgus, seizures/epilepsy/absences/spasms/status epilepticus and intellectual deficit/mental/psychomotor retardation/learning disability. 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, skeletal muscle and skin, 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:63 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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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 27ICD9CM, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 20 21 46 10 44 48 60
progressive myositis ossificans 8 42 22 21
myositis ossificans progressiva 8 42 21 48
progressive ossifying myositis 8 42 21
myositis ossificans 42 21 60
fop 42 48
multiple endocrine neoplasia 60
stone man syndrome 8
man of stone 48


External Ids:

Disease Ontology8 DOID:13374
ICD9CM27 728.11
MeSH34 D009221
NCIt39 C3040
OMIM46 135100
MESH via Orphanet35 D009221
ICD10 via Orphanet26 M61.1
SNOMED-CT via Orphanet57 82725007
UMLS via Orphanet61 C0016037
ICD1025 M61.1

Related Diseases for Fibrodysplasia Ossificans Progressiva

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17GeneCards, 18GeneDecks
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Diseases related to Fibrodysplasia Ossificans Progressiva via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 196)
idRelated DiseaseScoreTop Affiliating Genes
1myositis ossificans31.2ACVR1C
2ankylosis31.0BMP2, NOG
3pituitary adenoma30.9BMP4
4prolactinoma30.8BMP4
5osteosarcoma30.8BMP2, FOS, BMP4, BMP1
6sarcoma30.5BMP2, BMP4
7progressive osseous heteroplasia30.4BMP2, BMP4, NOG, ACVR1
8melanoma30.3BMP4, BMP2
9leiomyoma30.3SMAD7
10prostate cancer30.3SMAD7, FOS, BMP4, BMP2, BMPR1A, NOG
11synostosis30.1MSX2, NOG, BMP4
12adenocarcinoma30.1BMP4, SMAD7, BMP2, ID3
13ovarian cancer30.1SMAD7, BMP4, BMP2, FOS
14breast cancer30.1BMP2, BMP4, FOS, MSX2, BMPR1A, BMP1
15thyroiditis11.1
16thyroid medullary carcinoma11.0
17hyperparathyroidism10.9
18pancreatitis10.9
19pheochromocytoma10.9
20zollinger-ellison syndrome10.8
21familial medullary thyroid carcinoma10.8
22primary hyperparathyroidism10.8
23gastrinoma10.8
24myositis10.8
25neuroendocrine tumor10.8
26insulinoma10.7
27adenoma10.7
28multiple endocrine neoplasia10.7
29wagenmann-froboese syndrome10.7
30wermer syndrome10.7
31amyloidosis10.7
32hirschsprung's disease10.6
33neuroma10.6
34sipple syndrome10.6
35phaeochromocytoma10.6
36multiple endocrine neoplasia type 2a10.6
37thyroid cancer10.6
38multiple mucosal neuroma10.5
39von hippel-lindau disease10.5
40ankylosing spondylitis10.5
41cervicitis10.5
42spondylitis10.5
43parathyroid carcinoma10.5
44papillary carcinoma10.5
45acromegaly10.5
46duodenitis10.5
47islet cell tumor10.5
48papillary thyroid carcinoma10.5
49paraganglioma10.5
50multiple endocrine neoplasia type 410.5

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



Diseases related to fibrodysplasia ossificans progressiva

Clinical Features for Fibrodysplasia Ossificans Progressiva

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46OMIM, 48Orphanet
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Clinical features from OMIM:

135100

Clinical synopsis from OMIM:

135100

Symptoms:

48 (show all 21)
  • 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
  • glaucoma
  • 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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

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

Animal Models for Fibrodysplasia Ossificans Progressiva or affiliated genes

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36MGI
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Publications for Fibrodysplasia Ossificans Progressiva

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50PubMed
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Articles related to Fibrodysplasia Ossificans Progressiva:

(show top 50)    (show all 297)
idTitleAuthorsYear
1
Treatment of an Intractable Cutaneous Ulcer in the Right Lateral Malleolus in Fibrodysplasia Ossificans Progressiva. (23722929)
2014
2
Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trial. (24131551)
2013
3
Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva. (24047559)
2013
4
Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G &gt; A Mutation in ACVR1 Gene: A Case Report and Review of Literature. (23424689)
2013
5
Imaging diagnosis: fibrodysplasia ossificans progressiva in a cat. (23578335)
2013
6
Fibrodysplasia ossificans progressiva: a case report. (24366806)
2013
7
ACVR1, a Therapeutic Target of Fibrodysplasia Ossificans Progressiva, Is Negatively Regulated by miR-148a. (22408438)
2012
8
Is fibrodysplasia ossificans progressiva ever seen without skeletal abnormalities? (21437684)
2012
9
Fibrodysplasia ossificans progressiva: mechanisms and models of skeletal metamorphosis. (23115204)
2012
10
Facial morphology and occlusion of a patient with fibrodysplasia ossificans progressiva (FOP): a case report. (22784326)
2012
11
Neurological symptoms in individuals with fibrodysplasia ossificans progressiva. (22752062)
2012
12
Early clinical and radiographic characteristics in fibrodysplasia ossificans progressiva: a report of two cases. (21593359)
2011
13
Fibrodysplasia ossificans progressiva detected on FDG PET/CT. (21892060)
2011
14
Radiation therapy in treatment of fibrodysplasia ossificans progressiva: a case report and review of the literature. (21755739)
2011
15
Extraction of 6 molars under general anesthesia in patient with fibrodysplasia ossificans progressiva. (21549493)
2011
16
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
17
Fibrodysplasia ossificans progressiva (FOP): watch the great toes! (20577760)
2010
18
Osteochondral diseases and fibrodysplasia ossificans progressiva. (20824454)
2010
19
Mandibular hypoplasia in fibrodysplasia ossificans progressiva causing obstructive sleep apnoea with pulmonary hypertension. (20190637)
2010
20
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
21
Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. (19330033)
2009
22
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. (18830232)
2009
23
The occurrence of an aneurismal bone cyst and multiple osteochondromas in a patient with fibrodysplasia ossificans progressiva. (19194131)
2009
24
PET/CT of fibrodysplasia ossificans progressiva. (19444439)
2009
25
A new era for fibrodysplasia ossificans progressiva: a druggable target for the second skeleton. (17477807)
2007
26
De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva. (17077940)
2006
27
Fibrodysplasia ossificans progressiva: case report. (16400434)
2005
28
Question: Bone marrow transplant for fibrodysplasia ossificans progressiva: has the hour arrived? (11716421)
2001
29
Mast cell involvement in fibrodysplasia ossificans progressiva. (11521229)
2001
30
Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP). (11076054)
2000
31
Unusual ankylosis of the jaw due to fibrodysplasia ossificans progressiva. (10560885)
1999
32
A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient. (10665670)
1999
33
Clinical presentation of fibrodysplasia ossificans progressiva: pitfalls in diagnosis. (10598669)
1999
34
49th ENMC-Sponsored International Workshop: fibrodysplasia (myositis) ossificans progressiva (FOP). 14-16 February 1997, Naarden, The Netherlands. (9327407)
1997
35
Fibrodysplasia ossificans progressiva: searching for the skeleton key. (8687972)
1996
36
Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism. (8834042)
1996
37
Tc-99m MDP scanning in a patient with extensive fibrodysplasia ossificans progressiva. (7720319)
1995
38
Fibrodysplasia ossificans progressiva. (8179716)
1994
39
Fibrodysplasia ossificans progressiva. (8002796)
1994
40
Age- and joint-specific risk of initial heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. (8156682)
1994
41
Fibrodysplasia ossificans progressiva. (8002073)
1994
42
Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family. (8354680)
1993
43
Fibrodysplasia ossificans progressiva. An 11-year-old boy treated with a diphosphonate. (2124774)
1990
44
Failure of surgery and isotretinoin to relieve jaw immobilization in fibrodysplasia ossificans progressiva: report of two cases. (2299462)
1990
45
Trismus and multifocal soft tissue ossification. A presentation of fibrodysplasia ossificans progressiva? (2507212)
1989
46
Fibrodysplasia ossificans progressiva. (3601813)
1987
47
Fibrodysplasia ossificans progressiva. (6981979)
1982
48
Abnormal temporomandibular joints in fibrodysplasia ossificans progressiva. (6950788)
1982
49
Fibrodysplasia ossificans progressiva (myositis ossificans progressiva): a case report with some unusual clinical features. (7462877)
1980
50
Fibrodysplasia ossificans progressiva. Biochemical changes in blood serum, urine, skin, bone, and ectopic ossification. (705273)
1978

Genetic Variations for Fibrodysplasia Ossificans Progressiva

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Fibrodysplasia Ossificans Progressiva:

62
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

Expression for genes affiliated with Fibrodysplasia Ossificans Progressiva

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1BioGPS, 15Gene 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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51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 52R&D Systems, 4Cell Signaling Technology, 53Reactome, 55SinoBiological
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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
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9.8BMP2, BMP4, FOS, BMP1
99.8SMAD1, BMP2, BMP4, BMPR1A
10
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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
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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
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9.3BMP2, SMAD7, SMAD1, SMAD5, NOG, BMPR1A
25
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9.2ACVR1, INHBE, BMP1, BMPR1A, BMP4, BMP2
268.9ACVR1, ACVR1C, NOG, INHBE, BMPR1A, BMP4
27
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8.7NOG, SMAD7, SMAD1, ACVR1C, FKBP1A, BMPR1A
288.3INHBE, SMAD1, SMAD5, ACVR1C, ACVR1, NOG

Compounds for genes affiliated with Fibrodysplasia Ossificans Progressiva

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 49PharmGKB, 2BitterDB, 28IUPHAR, 24HMDB
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Compounds related to Fibrodysplasia Ossificans Progressiva according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1cyclopamine44 5911.3NOG, BMP4
26-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine1110.3ACVR1, FKBP1A
3azathioprine44 49 2 1113.0BMP4, BMP2, NOG
4dopamine44 28 11 2413.0FOS, NOG, BMP2, BMP4
5retinoid4410.0BMP2, BMP4, NOG, FOS
6heparan sulfate44 2410.9BMP2, BMP4, NOG, SDC2
7ribonucleic acid449.9NOG, BMP2, FOS, BMP4
8pd 98,059449.8SMAD7, SMAD1, BMP4, FOS, BMP2
9sb 20358044 5910.8FOS, BMP2, BMP4, SMAD7
10cycloheximide449.8SMAD7, NOG, BMP4, BMP2, FOS
11oligonucleotide449.7FOS, BMP2, BMP4, ACVR1, MSX2, SMAD7
12vegf449.7SMAD7, NOG, BMP4, BMP2, ID3, FOS
13dexamethasone44 49 28 1112.6FOS, BMP2, BMP4, NOG, SMAD7
14actinomycin d449.4SMAD7, BMP2, BMP4, FOS
15calcium44 49 11 2411.8NOG, BMP4, ACVR1, MSX2, BMP1, FOS
16threonine448.8SMAD5, SMAD1, ACVR1C, ACVR1, FKBP1A, BMPR1A
17serine448.5SMAD5, SMAD1, ACVR1C, ACVR1, NOG, FKBP1A

GO Terms for genes affiliated with Fibrodysplasia Ossificans Progressiva

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16Gene Ontology
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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:07213810.5BMP4, BMP2
2BMP signaling pathway involved in heart inductionGO:00313010.5BMP2, BMP4
3telencephalon regionalizationGO:02197810.5BMP4, BMP2
4regulation of odontogenesis of dentin-containing toothGO:04248710.5BMP4, BMP2
5cranial suture morphogenesisGO:06036310.4MSX2, BMP4
6negative regulation of pathway-restricted SMAD protein phosphorylationGO:06039410.4SMAD7, NOG
7pathway-restricted SMAD protein phosphorylationGO:06038910.4BMP2, ACVR1, SMAD7
8lung morphogenesisGO:06042510.3BMP4, NOG
9osteoblast fate commitmentGO:00205110.3SMAD5, SMAD1
10pituitary gland developmentGO:02198310.3NOG, BMP4, BMPR1A
11mesoderm formationGO:00170710.3BMPR1A, ACVR1, NOG
12SMAD protein signal transductionGO:06039510.3FOS, BMP2, BMP4
13positive regulation of SMAD protein import into nucleusGO:06039110.3BMP4, BMPR1A
14Mullerian duct regressionGO:00188010.3SMAD5, BMPR1A
15embryonic digit morphogenesisGO:04273310.3BMP4, NOG, BMPR1A
16regulation of activin receptor signaling pathwayGO:03292510.3SMAD7, FKBP1A
17positive regulation of ossificationGO:04577810.3BMP4, BMP2
18positive regulation of epithelial cell proliferationGO:05067910.3BMPR1A, NOG, BMP4
19germ cell developmentGO:00728110.3BMP4, SMAD5, ACVR1
20positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:190152210.2SMAD1, BMP2, SMAD5
21positive regulation of pathway-restricted SMAD protein phosphorylationGO:01086210.2ACVR1, BMPR1A, BMP4, BMP2
22positive regulation of bone mineralizationGO:03050110.2BMP4, BMP2, BMPR1A, ACVR1
23positive regulation of cartilage developmentGO:06103610.2SMAD1, BMP2, BMP4, BMP1
24odontogenesis of dentin-containing toothGO:04247510.2BMP2, BMPR1A, BMP4
25embryonic skeletal joint morphogenesisGO:06027210.2NOG, BMP4
26SMAD protein complex assemblyGO:00718310.2SMAD1, FKBP1A
27cellular response to BMP stimulusGO:07177310.1BMP2, NOG, SMAD1, SMAD5
28wound healingGO:04206010.1SDC2, NOG, SMAD1
29telencephalon developmentGO:02153710.1BMP2, BMP4
30ureteric bud developmentGO:00165710.1BMP4, SMAD5, SMAD1, SMAD7
31in utero embryonic developmentGO:00170110.0NOG, ACVR1, BMP2, BMPR1A
32cartilage developmentGO:05121610.0BMPR1A, NOG, SMAD5, SMAD1
33osteoblast differentiationGO:00164910.0MSX2, NOG, BMP4, BMP2, TMEM119
34positive regulation of apoptotic processGO:04306510.0BMP2, ID3, MSX2, BMP4
35negative regulation of cell proliferationGO:0082859.8BMP2, MSX2, BMP4, SMAD1
36extracellular matrix organizationGO:0301989.7BMP2, BMP4, BMP1, SDC2
37negative regulation of transcription from RNA polymerase II promoterGO:0001229.7SMAD7, ID3, BMP2, BMP4, MSX2, NOG
38skeletal system developmentGO:0015019.7BMP2, BMP1, NOG
39positive regulation of transcription, DNA-dependentGO:0458939.7SMAD5, ACVR1, BMPR1A, BMP4, BMP2, FOS
40protein phosphorylationGO:0064689.7BMP2, SMAD1, SMAD5, ACVR1C, ACVR1, BMPR1A
41positive regulation of transcription from RNA polymerase II promoterGO:0459449.6FOS, BMP2, NOG, ACVR1, SMAD1, SMAD7
42positive regulation of osteoblast differentiationGO:0456699.6BMP2, SMAD1, BMP4, SMAD5, MSX2, ACVR1
43BMP signaling pathwayGO:0305099.4SMAD7, BMP2, BMP4, BMPR1A, SMAD1, ACVR1
44transforming growth factor beta receptor signaling pathwayGO:0071799.3SMAD5, SMAD1, FOS, BMPR1A, FKBP1A, ACVR1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1activin receptor activity, type IGO:01636110.3ACVR1, ACVR1C
2BMP receptor bindingGO:07070010.2BMP4, BMP2
3I-SMAD bindingGO:07041110.1SMAD7, SMAD1
4activin bindingGO:04818510.0FKBP1A, ACVR1, SMAD7
5transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activityGO:03061810.0SMAD5, SMAD1
6transforming growth factor beta-activated receptor activityGO:0050249.9BMPR1A, FKBP1A, ACVR1C
7growth factor activityGO:0080839.9BMP2, BMP4, INHBE, BMP1
8SMAD bindingGO:0463329.9FKBP1A, ACVR1, BMPR1A, BMP2
9type I transforming growth factor beta receptor bindingGO:0347139.8FKBP1A, SMAD7
10transmembrane receptor protein serine/threonine kinase activityGO:0046759.8BMPR1A, ACVR1
11protein bindingGO:0055157.6FOS, BMP2, BMP4, BMPR1A, ZMYND11, FKBP1A

Products for genes affiliated with Fibrodysplasia Ossificans Progressiva

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  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet