FOP
MCID: FBR011
MIFTS: 62

Fibrodysplasia Ossificans Progressiva (FOP) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Fibrodysplasia Ossificans Progressiva

Aliases & Descriptions for Fibrodysplasia Ossificans Progressiva:

Name: Fibrodysplasia Ossificans Progressiva 54 12 50 24 25 56 66 13 52 14 69
Myositis Ossificans 50 25 66 42 69
Myositis Ossificans Progressiva 12 50 25 56
Progressive Myositis Ossificans 12 50 25
Progressive Ossifying Myositis 12 50 25
Fop 50 56 66
Myositis Ossificans Progressive 66 29
Stone Man Syndrome 12 56
Man of Stone 66

Characteristics:

Orphanet epidemiological data:

56
fibrodysplasia ossificans progressiva
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Spain),<1/1000000 (Europe); Age of onset: Childhood; Age of death: any age;

HPO:

32
fibrodysplasia ossificans progressiva:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 135100
Disease Ontology 12 DOID:13374
ICD10 33 M61.1 M61.10
ICD9CM 35 728.11
MeSH 42 D009221
NCIt 47 C3040
Orphanet 56 ORPHA337
MESH via Orphanet 43 D009221
ICD10 via Orphanet 34 M61.1
UMLS via Orphanet 70 C0016037
MedGen 40 C0016037
UMLS 69 C0016037

Summaries for Fibrodysplasia Ossificans Progressiva

NIH Rare Diseases : 50 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 is 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 myositis ossificans, is related to exostoses, multiple, type 1 and osseous heteroplasia, progressive, and has symptoms including seizures, intellectual disability and failure to thrive. An important gene associated with Fibrodysplasia Ossificans Progressiva is ACVR1 (Activin A Receptor Type 1), and among its related pathways/superpathways are PEDF Induced Signaling and Akt Signaling. The drug Tretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and skin, and related phenotypes are craniofacial and embryo

Disease Ontology : 12 .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 : 25 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.

OMIM : 54 Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving... (135100) more...

UniProtKB/Swiss-Prot : 66 Fibrodysplasia ossificans progressiva: A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible.

Wikipedia : 71 Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease. The disease... more...

Related Diseases for Fibrodysplasia Ossificans Progressiva

Diseases related to Fibrodysplasia Ossificans Progressiva via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
id Related Disease Score Top Affiliating Genes
1 exostoses, multiple, type 1 11.3
2 osseous heteroplasia, progressive 11.3
3 myositis 10.4
4 myositis ossificans 10.4
5 ankylosis 10.3
6 cervicitis 10.3
7 osteochondroma 10.3
8 spondylitis 10.2
9 tarsal-carpal coalition syndrome 10.2 BMP4 NOG
10 multiple synostoses syndrome 10.1 BMP4 NOG
11 t cell immunodeficiency primary 10.1 BMP4 NOG
12 glutamate formiminotransferase deficiency 10.1 NOG TGFB1
13 acth-independent macronodular adrenal hyperplasia 10.1 ACVR1 BMP4 NOG
14 pharyngitis 10.0 ACVR1 BMP4 NOG
15 aneurysm, intracranial berry, 4 10.0 ACVR1 BMP1
16 tetanus 10.0
17 myoclonus 10.0
18 diphtheria 10.0
19 endotheliitis 10.0
20 vascular disease 10.0
21 calcinosis 10.0
22 exostosis 10.0
23 paget's disease of bone 10.0
24 pulmonary hypertension 10.0
25 keloids 10.0
26 scoliosis 10.0
27 osteomyelitis 10.0
28 influenza 10.0
29 dermatomyositis 10.0
30 enchondroma 10.0
31 klippel-feil syndrome 10.0
32 sarcoma 10.0
33 propriospinal myoclonus 10.0
34 pertussis 10.0
35 synovial chondromatosis 10.0
36 amphetamine abuse 10.0 BMP1 BMP4 FOS
37 3-methylglutaconic aciduria 10.0 BMP1 BMPR1A
38 splenic flexure cancer 10.0 BMP4 NOG TGFB1
39 androgenic alopecia 10.0 BMP4 BMPR1A NOG
40 leber congenital amaurosis 9.9 SMAD7 TGFB1
41 lubani-al saleh-teebi syndrome 9.8 SMAD7 TGFB1
42 glomerulosclerosis, focal segmental, 7 9.8 BMPR1A TGFB1
43 seizures, benign familial infantile, 3 8.8 ACVR1 BMP1 BMP4 BMPR1A FOS MSX2

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



Diseases related to Fibrodysplasia Ossificans Progressiva

Symptoms & Phenotypes for Fibrodysplasia Ossificans Progressiva

Symptoms by clinical synopsis from OMIM:

135100

Clinical features from OMIM:

135100

Human phenotypes related to Fibrodysplasia Ossificans Progressiva:

56 32 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 intellectual disability 56 32 Occasional (29-5%) HP:0001249
3 failure to thrive 56 32 Occasional (29-5%) HP:0001508
4 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
5 hearing impairment 56 32 Frequent (79-30%) HP:0000365
6 synostosis of joints 56 32 Occasional (29-5%) HP:0100240
7 abnormality of the vertebrae 56 32 Very frequent (99-80%) HP:0003468
8 subcutaneous nodule 56 32 Very frequent (99-80%) HP:0001482
9 anemia 56 32 Occasional (29-5%) HP:0001903
10 limitation of joint mobility 56 32 Very frequent (99-80%) HP:0001376
11 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
12 glaucoma 56 32 Occasional (29-5%) HP:0000501
13 alopecia 56 32 Frequent (79-30%) HP:0001596
14 hallux valgus 56 32 Occasional (29-5%) HP:0001822
15 spinal rigidity 56 32 Very frequent (99-80%) HP:0003306
16 abnormality of the first metatarsal bone 56 32 Very frequent (99-80%) HP:0010054
17 aplasia/hypoplasia of the phalanges of the hallux 56 32 Frequent (79-30%) HP:0010058
18 short hallux 56 32 Very frequent (99-80%) HP:0010109
19 ectopic ossification in muscle tissue 56 32 Very frequent (99-80%) HP:0011987
20 ectopic ossification in ligament tissue 56 32 Very frequent (99-80%) HP:0011989
21 scoliosis 32 HP:0002650
22 widely spaced teeth 32 HP:0000687
23 sensorineural hearing impairment 32 HP:0000407
24 respiratory failure 32 HP:0002878
25 conductive hearing impairment 32 HP:0000405
26 short 1st metacarpal 32 HP:0010034
27 broad femoral neck 32 HP:0006429
28 metaphyseal widening 32 HP:0003016
29 small cervical vertebral bodies 32 HP:0004629
30 progressive cervical vertebral spine fusion 32 HP:0008449
31 ectopic ossification in tendon tissue 32 HP:0011988

MGI Mouse Phenotypes related to Fibrodysplasia Ossificans Progressiva:

44 (show all 21)
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.23 ACVR1 BMP1 BMP4 BMPR1A FOS MSX2
2 embryo MP:0005380 10.21 ACVR1 BMP1 BMP4 BMPR1A FOS MSX2
3 cardiovascular system MP:0005385 10.19 ACVR1 BMP1 BMP4 BMPR1A MSX2 NOG
4 growth/size/body region MP:0005378 10.19 BMP4 BMPR1A FOS MSX2 NOG SMAD7
5 behavior/neurological MP:0005386 10.14 SMAD7 TGFB1 ACVR1 BMP4 BMPR1A FOS
6 cellular MP:0005384 10.13 ACVR1 BMP4 BMPR1A FOS NOG SMAD7
7 digestive/alimentary MP:0005381 10.11 ACVR1 BMP1 BMP4 MSX2 NOG SMAD7
8 homeostasis/metabolism MP:0005376 10.1 NOG SMAD7 TGFB1 ACVR1 BMP1 BMP4
9 endocrine/exocrine gland MP:0005379 10.09 BMP4 BMPR1A FOS MSX2 NOG SMAD7
10 mortality/aging MP:0010768 10.06 ACVR1 BMP1 BMP4 BMPR1A FOS MSX2
11 hematopoietic system MP:0005397 10.05 BMP1 BMP4 BMPR1A FOS MSX2 SMAD7
12 immune system MP:0005387 10.02 ACVR1 BMP1 BMPR1A FOS MSX2 SMAD7
13 hearing/vestibular/ear MP:0005377 10 NOG ACVR1 BMP4 BMPR1A FOS MSX2
14 integument MP:0010771 10 SMAD7 TGFB1 BMP4 BMPR1A FOS MSX2
15 limbs/digits/tail MP:0005371 9.98 ACVR1 BMP1 BMP4 BMPR1A FOS MSX2
16 muscle MP:0005369 9.97 TGFB1 ACVR1 BMP1 BMP4 BMPR1A MSX2
17 nervous system MP:0003631 9.87 ACVR1 BMP4 BMPR1A FOS MSX2 NOG
18 normal MP:0002873 9.73 BMP4 BMPR1A FOS MSX2 NOG SMAD7
19 reproductive system MP:0005389 9.63 BMP4 BMPR1A FOS NOG SMAD7 TGFB1
20 skeleton MP:0005390 9.56 ACVR1 BMP1 BMP4 BMPR1A FOS MSX2
21 vision/eye MP:0005391 9.1 BMP4 BMPR1A FOS MSX2 NOG TGFB1

Drugs & Therapeutics for Fibrodysplasia Ossificans Progressiva

Drugs for Fibrodysplasia Ossificans Progressiva (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538

Interventional clinical trials:


id Name Status NCT ID Phase
1 An Open-Label Extension Study of Palovarotene to Treat Preosseous Flare-ups in FOP Subjects Active, not recruiting NCT02279095 Phase 2
2 An Efficacy and Safety Study of Palovarotene to Treat Preosseous Flare-ups in FOP Subjects Active, not recruiting NCT02190747 Phase 2
3 An Open-Label Extension Study of Palovarotene to Prevent Heterotopic Ossification in FOP Subjects in France Active, not recruiting NCT02979769 Phase 2
4 In-Home Evaluation of Episodic Administration of Palovarotene in Fibrodysplasia Ossificans Progressiva (FOP) Subjects Suspended NCT02521792 Phase 2
5 Urine Sample Collection From FOP Patients Completed NCT02066324
6 The Fibrodysplasia Ossificans Progressiva (FOP) Connection Registry Recruiting NCT02745158
7 A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP) Active, not recruiting NCT02322255
8 Discovering the Gene(s) Causing Developmental Dysplasia of the Hip (DDH) Active, not recruiting NCT01193673

Search NIH Clinical Center for Fibrodysplasia Ossificans Progressiva

Cochrane evidence based reviews: myositis ossificans

Genetic Tests for Fibrodysplasia Ossificans Progressiva

Genetic tests related to Fibrodysplasia Ossificans Progressiva:

id Genetic test Affiliating Genes
1 Progressive Myositis Ossificans 29
2 Fibrodysplasia Ossificans Progressiva 24 ACVR1

Anatomical Context for Fibrodysplasia Ossificans Progressiva

MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

39
Bone, Skeletal Muscle, Skin, Smooth Muscle, Endothelial, Bone Marrow

Publications for Fibrodysplasia Ossificans Progressiva

Articles related to Fibrodysplasia Ossificans Progressiva:

(show top 50) (show all 353)
id Title Authors Year
1
Trace element and cytokine concentrations in patients with Fibrodysplasia Ossificans Progressiva (FOP): A case control study. ( 27908413 )
2017
2
The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response. ( 27713089 )
2017
3
A cumulative analogue joint involvement scale (CAJIS) for fibrodysplasia ossificans progressiva (FOP). ( 28465250 )
2017
4
A Zebrafish Model of Human Fibrodysplasia Ossificans Progressiva. ( 28394244 )
2017
5
Restricted Mandibular Movement Attributed to Ossification of Mandibular Depressors and Medial Pterygoid Muscles in Patients With Fibrodysplasia Ossificans Progressiva: A Report of 3 Cases. ( 28390760 )
2017
6
The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A close call. ( 28473268 )
2017
7
Fibrodysplasia ossificans progressiva: initial presentation with a preosseous lesion of the scalp and its MRI appearance. ( 27003387 )
2016
8
A Door Opens for Fibrodysplasia Ossificans Progressiva. ( 26654278 )
2016
9
The ACVR1 R206H mutation found in fibrodysplasia ossificans progressiva increases human induced pluripotent stem cell-derived endothelial cell formation and collagen production through BMP-mediated SMAD1/5/8 signaling. ( 27530160 )
2016
10
Fibrodysplasia ossificans progressiva. A case report and focus on the BMP signaling pathway. ( 26948676 )
2016
11
High throughput screening for modulators of ACVR1 transcription potentially applicable to the treatment of Fibrodysplasia Ossificans Progressiva. ( 27125279 )
2016
12
Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva. ( 27492340 )
2016
13
Palovarotene Inhibits Heterotopic Ossification and Maintains Limb Mobility and Growth in Mice With the Human ACVR1(R206H) Fibrodysplasia Ossificans Progressiva (FOP) Mutation. ( 26896819 )
2016
14
Correction: High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva. ( 27604694 )
2016
15
Fibrodysplasia Ossificans Progressiva. ( 26876407 )
2016
16
Early Recognition of Fibrodysplasia Ossificans Progressiva-Important For the Clinician. ( 27935932 )
2016
17
Analog Method for Radiographic Assessment of Heterotopic Bone in Fibrodysplasia Ossificans Progressiva. ( 27989444 )
2016
18
The Diversity of the Clinical Phenotypes in Patients With Fibrodysplasia Ossificans Progressiva. ( 26858800 )
2016
19
Towards a cure for Fibrodysplasia ossificans progressiva. ( 27867996 )
2016
20
Generation of integration free induced pluripotent stem cells from fibrodysplasia ossificans progressiva (FOP) patients from urine samples. ( 27345784 )
2016
21
ACVR1-Fc suppresses BMP signaling and chondro-osseous differentiation in an in vitro model of Fibrodysplasia ossificans progressiva. ( 27492611 )
2016
22
The Natural History of Flare-Ups in Fibrodysplasia Ossificans Progressiva (FOP): A Comprehensive Global Assessment. ( 27025942 )
2016
23
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva. ( 27565519 )
2016
24
Inhibition of TGFI^ signaling decreases osteogenic differentiation of fibrodysplasia ossificans progressiva fibroblasts in a novel in vitro model of the disease. ( 26769004 )
2016
25
A case of fibrodysplasia ossificans progressiva: 20 years of follow-up. ( 26954827 )
2016
26
Fibrodysplasia ossificans progressiva: Case report of a terminal patient. ( 27282280 )
2016
27
Development of New Therapeutic Agents for Fibrodysplasia Ossificans Progressiva. ( 26695699 )
2016
28
Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review. ( 26436010 )
2015
29
ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A. ( 26333933 )
2015
30
A Tumour for which Surgery will do more harm than good: A Case Report of Fibrodysplasia Ossificans Progressiva. ( 25875418 )
2015
31
Neofunction of ACVR1 in fibrodysplasia ossificans progressiva. ( 26621707 )
2015
32
Fibrodysplasia ossificans progressiva misdiagnosed as cervical exostosis. ( 25832962 )
2015
33
Role of osteoclasts in heterotopic ossification enhanced by fibrodysplasia ossificans progressiva-related activin-like kinase 2 mutation in mice. ( 26204847 )
2015
34
Classical and atypical Fibrodysplasia Ossificans Progressiva in India. ( 26058333 )
2015
35
Fibrodysplasia Ossificans Progressiva. ( 26267714 )
2015
36
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva. ( 25604857 )
2015
37
Fibrodysplasia ossificans progressiva in a newborn with cardiac involvement. ( 25809395 )
2015
38
Clinical and molecular characterisation of two siblings with fibrodysplasia ossificans progressiva, from the Colombian Pacific coast (South America). ( 26055602 )
2015
39
Osteochondromas in fibrodysplasia ossificans progressiva: a widespread trait with a streaking but overlooked appearance when arising at femoral bone end. ( 26049728 )
2015
40
New Protocol to Optimize iPS Cells for Genome Analysis of Fibrodysplasia Ossificans Progressiva. ( 25773749 )
2015
41
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing. ( 25899773 )
2015
42
Heterotopic ossification in fibrodysplasia ossificans progressiva. ( 25444017 )
2015
43
A 'Y-shaped' soft tissue ossification in fibrodysplasia ossificans progressiva. ( 26634132 )
2015
44
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients. ( 26097044 )
2015
45
Induced Pluripotent Stem Cells to Model Human Fibrodysplasia Ossificans Progressiva. ( 26626181 )
2015
46
Quality of life of patients with fibrodysplasia ossificans progressiva. ( 26564023 )
2015
47
Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective. ( 26077615 )
2015
48
Radiographic characteristics of the hand and cervical spine in fibrodysplasia ossificans progressiva. ( 25343126 )
2014
49
General anesthesia for dental procedures in patients with fibrodysplasia ossificans progressiva: a review of 42 cases in 30 patients. ( 24361843 )
2014
50
Fibrodysplasia ossificans progressiva: a case report. ( 26022598 )
2014

Variations for Fibrodysplasia Ossificans Progressiva

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

66
id Symbol AA change Variation ID SNP ID
1 ACVR1 p.Arg206His VAR_028444 rs121912678
2 ACVR1 p.Arg202Ile VAR_058419 rs387906591
3 ACVR1 p.Gln207Glu VAR_058420
4 ACVR1 p.Gly328Glu VAR_058421 rs387906589
5 ACVR1 p.Gly328Arg VAR_058422
6 ACVR1 p.Gly328Trp VAR_058423 rs387906588
7 ACVR1 p.Gly356Asp VAR_058424 rs121912679
8 ACVR1 p.Arg375Pro VAR_058425 rs387906590

ClinVar genetic disease variations for Fibrodysplasia Ossificans Progressiva:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ACVR1 NM_001105.4(ACVR1): c.617G> A (p.Arg206His) single nucleotide variant Pathogenic rs121912678 GRCh37 Chromosome 2, 158630626: 158630626
2 ACVR1 NM_001105.4(ACVR1): c.1067G> A (p.Gly356Asp) single nucleotide variant Pathogenic rs121912679 GRCh37 Chromosome 2, 158617589: 158617589
3 ACVR1 NM_001105.4(ACVR1): c.774G> C (p.Arg258Ser) single nucleotide variant Pathogenic rs121912680 GRCh37 Chromosome 2, 158626896: 158626896
4 ACVR1 NM_001105.4(ACVR1): c.982G> A (p.Gly328Arg) single nucleotide variant Pathogenic rs387906588 GRCh37 Chromosome 2, 158622517: 158622517
5 ACVR1 NM_001105.4(ACVR1): c.982G> T (p.Gly328Trp) single nucleotide variant Pathogenic rs387906588 GRCh37 Chromosome 2, 158622517: 158622517
6 ACVR1 NM_001105.4(ACVR1): c.983G> A (p.Gly328Glu) single nucleotide variant Pathogenic/Likely pathogenic rs387906589 GRCh37 Chromosome 2, 158622516: 158622516
7 ACVR1 NM_001105.4(ACVR1): c.1124G> C (p.Arg375Pro) single nucleotide variant Pathogenic rs387906590 GRCh37 Chromosome 2, 158617532: 158617532
8 ACVR1 NM_001105.4(ACVR1): c.605G> T (p.Arg202Ile) single nucleotide variant Pathogenic rs387906591 GRCh37 Chromosome 2, 158630638: 158630638
9 ACVR1 NM_001105.4(ACVR1): c.587T> C (p.Leu196Pro) single nucleotide variant Pathogenic rs797045135 GRCh37 Chromosome 2, 158630656: 158630656
10 ACVR1 NM_001105.4(ACVR1): c.772A> G (p.Arg258Gly) single nucleotide variant Likely pathogenic rs863224846 GRCh37 Chromosome 2, 158626898: 158626898

Expression for Fibrodysplasia Ossificans Progressiva

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

Pathways for Fibrodysplasia Ossificans Progressiva

Pathways related to Fibrodysplasia Ossificans Progressiva according to GeneCards Suite gene sharing:

(show all 29)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 ACVR1 BMP1 BMP4 BMPR1A FOS TGFB1
2
Show member pathways
13.19 ACVR1 BMP1 BMP4 BMPR1A FOS TGFB1
3
Show member pathways
13.07 ACVR1 BMP1 BMP4 BMPR1A FOS TGFB1
4
Show member pathways
12.81 BMP1 BMP4 FOS TGFB1
5
Show member pathways
12.31 ACVR1 BMP4 BMPR1A FOS
6
Show member pathways
12.25 ACVR1 BMP4 BMPR1A NOG TGFB1
7 12.21 FOS MSX2 TGFB1
8
Show member pathways
12.1 ACVR1 BMP4 BMPR1A NOG TGFB1
9 12.05 ACVR1 BMP4 TGFB1
10 11.97 BMP4 BMPR1A SMAD7 TGFB1
11 11.92 ACVR1 BMP4 BMPR1A
12 11.9 ACVR1 BMP4 BMPR1A FOS
13 11.89 FOS SMAD7 TGFB1
14 11.88 BMP1 BMP4 TGFB1
15 11.86 BMP4 BMPR1A NOG TGFB1
16 11.75 FOS SMAD7 TGFB1
17
Show member pathways
11.62 BMP1 BMPR1A TGFB1
18 11.6 BMP4 MSX2 NOG TGFB1
19
Show member pathways
11.57 BMPR1A NOG SMAD7
20 11.53 BMP1 BMP4 FOS TGFB1
21 11.37 BMP4 NOG TGFB1
22 11.3 BMP4 BMPR1A
23 11.28 FOS TGFB1
24 11.18 BMP1 BMP4 NOG TGFB1
25 11.12 BMP4 FOS NOG SMAD7 TGFB1
26 11.07 FOS TGFB1
27 11.02 ACVR1 BMP4 BMPR1A NOG SMAD7 TGFB1
28
Show member pathways
11.01 ACVR1 SMAD7 TGFB1
29 10.95 BMP4 BMPR1A

GO Terms for Fibrodysplasia Ossificans Progressiva

Biological processes related to Fibrodysplasia Ossificans Progressiva according to GeneCards Suite gene sharing:

(show top 50) (show all 78)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.94 ACVR1 BMP4 BMPR1A TGFB1
2 in utero embryonic development GO:0001701 9.91 ACVR1 BMPR1A NOG
3 positive regulation of cell migration GO:0030335 9.9 ACVR1 BMP4 TGFB1
4 negative regulation of gene expression GO:0010629 9.9 BMP4 NOG TGFB1
5 skeletal system development GO:0001501 9.89 BMP1 BMP4 NOG
6 osteoblast differentiation GO:0001649 9.87 BMP4 MSX2 NOG
7 positive regulation of epithelial cell proliferation GO:0050679 9.87 BMP4 BMPR1A NOG TGFB1
8 wound healing GO:0042060 9.86 MSX2 NOG TGFB1
9 ossification GO:0001503 9.86 BMP1 BMP4 MSX2
10 embryonic digit morphogenesis GO:0042733 9.86 BMP4 BMPR1A MSX2 NOG
11 neural tube closure GO:0001843 9.85 BMP4 NOG TGFB1
12 positive regulation of osteoblast differentiation GO:0045669 9.85 ACVR1 BMP4 BMPR1A MSX2
13 outflow tract morphogenesis GO:0003151 9.84 BMP4 BMPR1A MSX2 NOG
14 SMAD protein signal transduction GO:0060395 9.83 BMP4 FOS TGFB1
15 cellular response to growth factor stimulus GO:0071363 9.82 BMP4 MSX2 TGFB1
16 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.81 ACVR1 BMP4 BMPR1A TGFB1
17 ureteric bud development GO:0001657 9.8 BMP4 NOG SMAD7 TGFB1
18 chondrocyte differentiation GO:0002062 9.79 BMP4 BMPR1A TGFB1
19 pituitary gland development GO:0021983 9.79 BMP4 BMPR1A NOG
20 ventricular septum morphogenesis GO:0060412 9.78 ACVR1 NOG SMAD7
21 cellular response to BMP stimulus GO:0071773 9.78 ACVR1 BMP4 BMPR1A NOG
22 endocardial cushion morphogenesis GO:0003203 9.77 ACVR1 BMPR1A NOG
23 pathway-restricted SMAD protein phosphorylation GO:0060389 9.77 ACVR1 SMAD7 TGFB1
24 transforming growth factor beta receptor signaling pathway GO:0007179 9.77 ACVR1 BMPR1A FOS SMAD7 TGFB1
25 positive regulation of SMAD protein import into nucleus GO:0060391 9.76 BMP4 BMPR1A TGFB1
26 mesoderm formation GO:0001707 9.76 ACVR1 BMP4 BMPR1A NOG
27 neural tube development GO:0021915 9.75 NOG TGFB1
28 negative regulation of BMP signaling pathway GO:0030514 9.75 NOG SMAD7
29 negative regulation of fat cell differentiation GO:0045599 9.75 MSX2 TGFB1
30 dorsal/ventral pattern formation GO:0009953 9.75 BMPR1A NOG
31 response to progesterone GO:0032570 9.75 FOS TGFB1
32 negative regulation of cell cycle GO:0045786 9.75 BMP4 TGFB1
33 epithelial to mesenchymal transition GO:0001837 9.75 NOG TGFB1
34 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.74 ACVR1 BMP4
35 embryonic skeletal system development GO:0048706 9.74 BMP4 NOG
36 positive regulation of BMP signaling pathway GO:0030513 9.74 BMP4 MSX2
37 odontogenesis GO:0042476 9.74 BMP4 MSX2
38 germ cell development GO:0007281 9.74 ACVR1 BMP4
39 face morphogenesis GO:0060325 9.74 NOG TGFB1
40 embryonic hindlimb morphogenesis GO:0035116 9.73 BMP4 MSX2
41 positive regulation of collagen biosynthetic process GO:0032967 9.73 BMP4 TGFB1
42 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.73 SMAD7 TGFB1
43 response to immobilization stress GO:0035902 9.73 FOS TGFB1
44 positive regulation of bone mineralization GO:0030501 9.73 ACVR1 BMP4 BMPR1A TGFB1
45 negative regulation of myoblast differentiation GO:0045662 9.72 BMP4 TGFB1
46 lung morphogenesis GO:0060425 9.72 BMP4 NOG
47 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.72 ACVR1 BMPR1A
48 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.72 SMAD7 TGFB1
49 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.72 NOG TGFB1
50 anatomical structure formation involved in morphogenesis GO:0048646 9.71 BMP4 NOG

Molecular functions related to Fibrodysplasia Ossificans Progressiva according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.73 ACVR1 BMPR1A NOG TGFB1
2 transcription regulatory region DNA binding GO:0044212 9.54 FOS MSX2 SMAD7
3 cytokine activity GO:0005125 9.5 BMP1 BMP4 TGFB1
4 SMAD binding GO:0046332 9.46 ACVR1 BMPR1A
5 growth factor activity GO:0008083 9.43 BMP1 BMP4 TGFB1
6 transforming growth factor beta receptor binding GO:0005160 9.4 BMP4 TGFB1
7 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 ACVR1 BMPR1A
8 activin binding GO:0048185 8.96 ACVR1 SMAD7
9 type I transforming growth factor beta receptor binding GO:0034713 8.62 SMAD7 TGFB1

Sources for Fibrodysplasia Ossificans Progressiva

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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