FOP
MCID: FBR011
MIFTS: 67

Fibrodysplasia Ossificans Progressiva (FOP)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Infectious diseases, Muscle diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Fibrodysplasia Ossificans Progressiva

MalaCards integrated aliases for Fibrodysplasia Ossificans Progressiva:

Name: Fibrodysplasia Ossificans Progressiva 56 12 74 24 52 25 58 73 36 13 54 15 39 71
Myositis Ossificans Progressiva 12 74 24 52 25 58 32
Progressive Myositis Ossificans 12 52 25 29 6
Fop 56 52 25 58 73
Progressive Ossifying Myositis 12 24 52 25
Myositis Ossificans 25 73 43 71
Stone Man Syndrome 12 58
Myositis Ossificans Progressive 73
Man of Stone 73

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in most patients)
mean age of onset, 5 years
ossification evident 2-8 months following swelling
trauma, im injection, surgery can be foci of ectopic ossification


HPO:

31
fibrodysplasia ossificans progressiva:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance The penetrance of gain-of-function variants in acvr1 is estimated to be near complete; there are no reported individuals with nonpenetrance [shore et al 2006b]. among reported individuals with the most common pathogenic variant (c.617g>a; p.arg206his), none are unaffected.

Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:13374
OMIM 56 135100
KEGG 36 H00430
ICD9CM 34 728.11
MeSH 43 D009221
NCIt 49 C3040
SNOMED-CT 67 82725007
ICD10 32 M61.1
MESH via Orphanet 44 D009221
ICD10 via Orphanet 33 M61.1
UMLS via Orphanet 72 C0016037
Orphanet 58 ORPHA337
MedGen 41 C0016037
UMLS 71 C0016037 C0027122

Summaries for Fibrodysplasia Ossificans Progressiva

Genetics Home Reference : 25 Fibrodysplasia ossificans progressiva 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. Extra-skeletal bone formation causes progressive loss of mobility as the joints become affected. Inability to fully open the mouth may cause difficulty in speaking and eating. Over time, people with this disorder may experience malnutrition due to their eating problems. They may also have breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs. Any trauma to the muscles of an individual with fibrodysplasia ossificans progressiva, such as a fall or invasive medical procedures, may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as influenza. People with fibrodysplasia ossificans progressiva are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities.

MalaCards based summary : Fibrodysplasia Ossificans Progressiva, also known as myositis ossificans progressiva, is related to osseous heteroplasia, progressive and myositis ossificans. An important gene associated with Fibrodysplasia Ossificans Progressiva is ACVR1 (Activin A Receptor Type 1), and among its related pathways/superpathways are TGF-beta signaling pathway and Signaling by GPCR. The drugs Tretinoin and Saracatinib have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and lung, and related phenotypes are abnormal vertebral morphology and subcutaneous nodule

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.

NIH Rare Diseases : 52 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.

OMIM : 56 Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner, with most patients being confined to a wheelchair by the third decade of life and requiring lifelong care (summary by Petrie et al., 2009). (135100)

KEGG : 36 Fibrodysplasia ossificans progressiva (FOP) is a very rare disorder that leads to progressive ossification of muscle tissue and connective tissue. This process becomes noticeable in early childhood. Affected individuals harbor missense mutations in the ACVR1A gene that brings about constitutive activation of BMP type I receptor. FOP can be inherited in an autosomal dominant pattern.

UniProtKB/Swiss-Prot : 73 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 : 74 Fibrodysplasia ossificans progressiva (FOP), also known as Münchmeyer disease, is an extremely rare... more...

GeneReviews: NBK558090

Related Diseases for Fibrodysplasia Ossificans Progressiva

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

(show top 50) (show all 262)
# Related Disease Score Top Affiliating Genes
1 osseous heteroplasia, progressive 32.7 NOG BMP4 BMP2 ACVR1
2 myositis ossificans 31.8 FOS BMP4 BMP1 ACVR1
3 ankylosis 31.2 NOG BMP4 BMP2 ACVR1
4 synovial chondromatosis 30.6 NOG BMP4 BMP2
5 otosclerosis 29.9 NOG BMP4 BMP2
6 synostosis 29.9 NOG MSX2 BMP4 BMP2
7 osteogenic sarcoma 29.8 MAPK14 FOS BMP2 BMP1
8 brachydactyly 29.3 NOG MSX2 BMPR1B BMPR1A BMP2
9 gastric adenocarcinoma 29.1 MAPK14 MAPK1 FOS BMPR1A ACVR2A
10 chromosome 2q35 duplication syndrome 29.0 NOG MSX2 BMPR1B BMPR1A BMP4 BMP2
11 pulmonary hypertension 29.0 SMAD1 BMPR1B BMPR1A BMP4 BMP2 ACVR1
12 exostoses, multiple, type i 11.7
13 bunion 11.1
14 myositis 11.0
15 connective tissue disease 10.8
16 scoliosis 10.7
17 spondyloarthropathy 1 10.6
18 respiratory failure 10.6
19 inflammatory spondylopathy 10.6
20 spondylitis 10.6
21 fibromatosis 10.6
22 alopecia 10.6
23 osteochondroma 10.6
24 torticollis 10.5
25 hereditary lymphedema i 10.5
26 exostosis 10.5
27 sarcoma 10.5
28 spindle cell sarcoma 10.5
29 brittle bone disorder 10.4
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
31 bone disease 10.4
32 diffuse midline glioma, h3 k27m-mutant 10.4
33 sensorineural hearing loss 10.4
34 osteomyelitis 10.4
35 mumps 10.4
36 klippel-feil syndrome 10.4
37 pertussis 10.4
38 tetanus 10.4
39 diphtheria 10.4
40 hyperostosis 10.4
41 basal cell carcinoma 10.4
42 arthropathy 10.4
43 myopathy 10.4
44 nephrolithiasis 10.4
45 lung disease 10.4
46 fasciitis 10.4
47 temporomandibular ankylosis 10.4
48 myoclonus 10.4
49 extraosseous osteosarcoma 10.4
50 chondrosarcoma 10.3

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



Diseases related to Fibrodysplasia Ossificans Progressiva

Symptoms & Phenotypes for Fibrodysplasia Ossificans Progressiva

Human phenotypes related to Fibrodysplasia Ossificans Progressiva:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal vertebral morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003468
2 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
3 spinal rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0003306
4 short hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010109
5 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
6 abnormality of the first metatarsal bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010054
7 ectopic ossification in muscle tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0011987
8 ectopic ossification in ligament tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0011989
9 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
10 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
11 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
12 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
13 aplasia/hypoplasia of the phalanges of the hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010058
14 intellectual disability 58 31 very rare (1%) Occasional (29-5%) HP:0001249
15 synostosis of joints 58 31 occasional (7.5%) Occasional (29-5%) HP:0100240
16 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
17 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
18 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
19 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001822
20 seizure 31 occasional (7.5%) HP:0001250
21 intellectual disability, mild 31 very rare (1%) HP:0001256
22 basal ganglia calcification 31 very rare (1%) HP:0002135
23 scoliosis 31 HP:0002650
24 widely spaced teeth 31 HP:0000687
25 seizures 58 Occasional (29-5%)
26 sensorineural hearing impairment 31 HP:0000407
27 conductive hearing impairment 31 HP:0000405
28 respiratory failure 31 HP:0002878
29 short 1st metacarpal 31 HP:0010034
30 hamartoma 31 HP:0010566
31 broad femoral neck 31 HP:0006429
32 metaphyseal widening 31 HP:0003016
33 small cervical vertebral bodies 31 HP:0004629
34 progressive cervical vertebral spine fusion 31 HP:0008449
35 ectopic ossification in tendon tissue 31 HP:0011988

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
small cervical vertebral bodies
progressive cervical vertebral spine fusion

Skin Nails Hair Hair:
alopecia

Skeletal Hands:
short thumb
fifth finger clinodactyly
short first metacarpal
reduction deficits of thumbs (in some patients)

Skeletal Limbs:
broad femoral neck
metaphyseal widening
painful swellings in tendons
restricted arm mobility
progressive ectopic ossification of tendons and ligaments
more
Head And Neck Mouth:
jaw fixation

Muscle Soft Tissue:
painful swelling in aponeuroses
painful swelling in fasciae
progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters)

Head And Neck Teeth:
widely spaced teeth

Skeletal Feet:
hallux valgus
short hallux
malformed first metatarsal
monophalangism of first metatarsal
reduction deficits of halluces (in some patients)

Respiratory Lung:
respiratory failure
restrictive pulmonary disease

Head And Neck Ears:
conductive hearing loss
sensorineural hearing loss

Skeletal Skull:
flat, broad mandibular condyles

Neurologic Central Nervous System:
asymptomatic hamartoma-like lesions in dorsal medulla
asymptomatic hamartoma-like lesions in ventral pons
bulging of the dorsal pons
thickened pontomedullary junction
enlarged medulla
more

Clinical features from OMIM:

135100

GenomeRNAi Phenotypes related to Fibrodysplasia Ossificans Progressiva according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.62 ACVR1 ACVR2A BMPR1B MAPK1
2 Decreased substrate adherent cell growth GR00193-A-2 9.62 BMPR1A
3 Decreased substrate adherent cell growth GR00193-A-3 9.62 ACVR1 MAPK1 BMPR1A
4 Decreased substrate adherent cell growth GR00193-A-4 9.62 ACVR1 BMPR1B MAPK1 BMPR1A
5 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.26 ACVR2A BMPR1A BMPR1B MAPK1
6 Decreased cell viability after pRB stimulation GR00230-A-1 8.85 BMPR1A

MGI Mouse Phenotypes related to Fibrodysplasia Ossificans Progressiva:

45 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.54 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
2 cellular MP:0005384 10.53 ACVR1 ACVR2A BMP2 BMP4 BMPR1A BMPR1B
3 embryo MP:0005380 10.53 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
4 cardiovascular system MP:0005385 10.51 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
5 craniofacial MP:0005382 10.47 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
6 digestive/alimentary MP:0005381 10.46 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
7 homeostasis/metabolism MP:0005376 10.43 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
8 mortality/aging MP:0010768 10.43 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
9 endocrine/exocrine gland MP:0005379 10.41 ACVR2A BMP4 BMPR1A BMPR1B FOS ID1
10 hematopoietic system MP:0005397 10.35 BMP1 BMP2 BMP4 BMPR1A FOS ID1
11 nervous system MP:0003631 10.3 ACVR1 ACVR2A BMP2 BMP4 BMPR1A BMPR1B
12 immune system MP:0005387 10.29 ACVR1 BMP1 BMP2 BMPR1A FOS ID1
13 muscle MP:0005369 10.28 ACVR1 BMP1 BMP4 BMPR1A FKBP1A ID1
14 integument MP:0010771 10.24 ACVR2A BMP4 BMPR1A FKBP1A FOS MAPK1
15 hearing/vestibular/ear MP:0005377 10.2 ACVR1 BMP2 BMP4 BMPR1A FOS MAPK1
16 limbs/digits/tail MP:0005371 10.18 ACVR1 BMP1 BMP2 BMP4 BMPR1A BMPR1B
17 normal MP:0002873 10.17 BMP2 BMP4 BMPR1A BMPR1B FKBP1A FOS
18 reproductive system MP:0005389 10.1 ACVR2A BMP2 BMP4 BMPR1A BMPR1B FOS
19 neoplasm MP:0002006 10.06 ACVR1 BMPR1A FOS ID1 ID3 MAPK1
20 skeleton MP:0005390 9.89 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
21 respiratory system MP:0005388 9.81 ACVR2A BMP4 BMPR1A FKBP1A ID1 MAPK1
22 vision/eye MP:0005391 9.32 ACVR2A BMP4 BMPR1A BMPR1B FOS ID1

Drugs & Therapeutics for Fibrodysplasia Ossificans Progressiva

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
2
Saracatinib Investigational Phase 2 379231-04-6

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Phase 3, Efficacy and Safety Study of Oral Palovarotene for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP) Active, not recruiting NCT03312634 Phase 3 Palovarotene
2 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study of a RARγ-Specific Agonist (Palovarotene) in the Treatment of Preosseous Flare-ups in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) Completed NCT02190747 Phase 2 Palovarotene;Placebo
3 Saracatinib Trial TO Prevent FOP Recruiting NCT04307953 Phase 2 AZD0530 Difumarate;Matching placebo
4 A Phase 2, Open-Label Extension, Efficacy and Safety Study of a RARγ Specific Agonist (Palovarotene) in the Treatment of Preosseous Flare-ups in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) Active, not recruiting NCT02279095 Phase 2 Palovarotene dose level 1;Palovarotene dose level 2;Palovarotene dose level 3;Palovarotene dose level 4
5 A Randomized, Placebo-controlled Study to Assess the Safety, Tolerability, Pharmacokinetics, and Effects on Heterotopic Bone Formation of REGN2477 in Patients With Fibrodysplasia Ossificans Progressiva Active, not recruiting NCT03188666 Phase 2 REGN2477;Matching placebo
6 A Phase 2, Open-Label Extension, Efficacy and Safety Study of a RARγ-Specific Agonist (Palovarotene) in the Treatment of Preosseous Flare-ups in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) Active, not recruiting NCT02979769 Phase 2 Palovarotene dose level 1;Palovarotene dose level 2
7 A Phase 2, In-Home, Safety and Efficacy Evaluation of Episodic Administration of Open-Label Palovarotene in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) Terminated NCT02521792 Phase 2 Palovarotene
8 Urine Sample Collection From Patients With Fibrodysplasia Ossificans Progressiva (FOP) for Biomarker Analysis Completed NCT02066324
9 A Natural History, Non-Interventional, Two-Part Study in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) Completed NCT02322255
10 FOP Connection: A Global Registry for the Fibrodysplasia Ossificans Progressiva Community Recruiting NCT02745158
11 Preoperative Evaluation of Neurogenic Myositis Ossificans or Neurogenic Para-osteo-arthritis: Comparison Between Computed Tomography and Magnetic Resonance Imaging in Preoperative Evaluation Recruiting NCT03832556

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:

# Genetic test Affiliating Genes
1 Progressive Myositis Ossificans 29 ACVR1

Anatomical Context for Fibrodysplasia Ossificans Progressiva

MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

40
Bone, Skeletal Muscle, Lung, Pons, Skin, Endothelial, Bone Marrow

Publications for Fibrodysplasia Ossificans Progressiva

Articles related to Fibrodysplasia Ossificans Progressiva:

(show top 50) (show all 874)
# Title Authors PMID Year
1
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. 61 6 24 56
19085907 2009
2
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. 61 6 24 56
16642017 2006
3
ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: second report. 61 6 56
24259422 2014
4
Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis. 61 56 6
21567927 2011
5
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. 6 56 61
21044902 2011
6
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. 61 6 56
18830232 2009
7
Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. 61 56 6
19330033 2009
8
A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). 6 56 61
18203193 2008
9
The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. 61 56 6
17351709 2007
10
De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva. 61 56 6
17077940 2006
11
Myositis ossificans progressiva. Clinical features of eight patients and their response to treatment. 61 6 56
818090 1976
12
Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. 61 24 56
16230464 2005
13
Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism. 61 56 24
8834042 1996
14
Genetic aspects of fibrodysplasia ossificans progressiva. 24 56 61
7069743 1982
15
Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al. 54 56 61
18990993 2008
16
Hematopoietic stem-cell contribution to ectopic skeletogenesis. 6 54 61
17272450 2007
17
Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP). 56 54 61
18019378 2007
18
Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva. 56 54 61
11977169 2002
19
Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. 56 54 61
11503156 2001
20
Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. 56 61 54
8678932 1996
21
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva. 61 56
27565519 2016
22
The face signature of fibrodysplasia ossificans progressiva. 61 56
22581580 2012
23
Potent inhibition of heterotopic ossification by nuclear retinoic acid receptor-γ agonists. 61 56
21460849 2011
24
A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H. 61 6
21377447 2011
25
Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA. 56 61
15940369 2005
26
A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family. 61 56
16080294 2005
27
Transgenic mice overexpressing BMP4 develop a fibrodysplasia ossificans progressiva (FOP)-like phenotype. 61 56
15466378 2004
28
Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP). 56 61
11076054 2000
29
Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. 61 56
10631143 2000
30
Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22. 61 56
11140409 2000
31
A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient. 56 61
10665670 1999
32
Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva. 61 6
10441661 1999
33
Fibrodysplasia (myositis) ossificans progressiva: clinicopathological features and natural history. 56 61
8758048 1996
34
A three generation family with fibrodysplasia ossificans progressiva. 56 61
8411056 1993
35
Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family. 61 56
8354680 1993
36
The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients. 56 61
8423182 1993
37
The histopathology of fibrodysplasia ossificans progressiva. An endochondral process. 56 61
7678595 1993
38
[Fibromatosis and fibrodysplasia ossificans progressiva. An avoidable diagnostic error]. 56 61
1530442 1992
39
Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. 61 6
7068725 1982
40
The hand and foot malformations in fibrodysplasia ossificans progressiva. 56 61
7412069 1980
41
Fibrodysplasia ossificans progressiva. A survey of forty-two cases. 56 61
113413 1979
42
Paternal age effect in fibrodysplasia ossificans progressiva. 56 61
287808 1979
43
Histochemical and ultrastructural studies in fibrodysplasia ossificans progressiva (myositis ossificans progressiva). 61 56
141214 1977
44
Alkaline phosphatase activity in cultured skin fibroblasts from fibrodysplasia ossificans progressiva. 61 56
957379 1976
45
Polyostotic fibrous dysplasia and myositis ossificans progressiva. A report of coexistence. 61 6
5033743 1972
46
[Myositis ossificans progressiva]. 56 61
5704614 1968
47
Skeletal malformations and developmental arthropathy in individuals who have fibrodysplasia ossificans progressiva. 24 61
31655222 2020
48
Clinical staging of Fibrodysplasia Ossificans Progressiva (FOP). 61 24
28943457 2018
49
Shared ACVR1 mutations in FOP and DIPG: Opportunities and challenges in extending biological and clinical implications across rare diseases. 24 61
28780023 2018
50
A cumulative analogue joint involvement scale (CAJIS) for fibrodysplasia ossificans progressiva (FOP). 24 61
28465250 2017

Variations for Fibrodysplasia Ossificans Progressiva

ClinVar genetic disease variations for Fibrodysplasia Ossificans Progressiva:

6 (show top 50) (show all 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACVR1 NM_001111067.4(ACVR1):c.1124G>C (p.Arg375Pro)SNV Pathogenic 29596 rs387906590 2:158617532-158617532 2:157761020-157761020
2 ACVR1 NM_001111067.4(ACVR1):c.605G>T (p.Arg202Ile)SNV Pathogenic 29597 rs387906591 2:158630638-158630638 2:157774126-157774126
3 ACVR1 NM_001111067.4(ACVR1):c.587T>C (p.Leu196Pro)SNV Pathogenic 208843 rs797045135 2:158630656-158630656 2:157774144-157774144
4 ACVR1 NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)SNV Pathogenic 18309 rs121912678 2:158630626-158630626 2:157774114-157774114
5 ACVR1 NM_001111067.4(ACVR1):c.1067G>A (p.Gly356Asp)SNV Pathogenic 18310 rs121912679 2:158617589-158617589 2:157761077-157761077
6 ACVR1 NM_001111067.4(ACVR1):c.774G>C (p.Arg258Ser)SNV Pathogenic 18311 rs121912680 2:158626896-158626896 2:157770384-157770384
7 ACVR1 NM_001111067.4(ACVR1):c.982G>A (p.Gly328Arg)SNV Pathogenic 29593 rs387906588 2:158622517-158622517 2:157766005-157766005
8 ACVR1 NM_001111067.4(ACVR1):c.982G>T (p.Gly328Trp)SNV Pathogenic 29594 rs387906588 2:158622517-158622517 2:157766005-157766005
9 ACVR1 NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu)SNV Pathogenic/Likely pathogenic 29595 rs387906589 2:158622516-158622516 2:157766004-157766004
10 ACVR1 NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly)SNV Likely pathogenic 216885 rs863224846 2:158626898-158626898 2:157770386-157770386
11 ACVR1 NM_001111067.4(ACVR1):c.*500G>ASNV Uncertain significance 331677 rs886054985 2:158593543-158593543 2:157737031-157737031
12 ACVR1 NM_001111067.4(ACVR1):c.*210A>CSNV Uncertain significance 331682 rs886054987 2:158593833-158593833 2:157737321-157737321
13 ACVR1 NM_001111067.4(ACVR1):c.820C>T (p.His274Tyr)SNV Uncertain significance 331692 rs375487177 2:158622679-158622679 2:157766167-157766167
14 ACVR1 NM_001111067.4(ACVR1):c.*314A>CSNV Uncertain significance 331680 rs140005003 2:158593729-158593729 2:157737217-157737217
15 ACVR1 NM_001111067.4(ACVR1):c.-183+822G>ASNV Uncertain significance 894297 2:158731486-158731486 2:157874974-157874974
16 ACVR1 NM_001111067.4(ACVR1):c.-99G>ASNV Uncertain significance 893906 2:158674988-158674988 2:157818476-157818476
17 ACVR1 NM_001111067.4(ACVR1):c.122C>T (p.Ser41Phe)SNV Uncertain significance 893905 2:158637058-158637058 2:157780546-157780546
18 ACVR1 NM_001111067.4(ACVR1):c.126C>T (p.Cys42=)SNV Uncertain significance 893617 2:158637054-158637054 2:157780542-157780542
19 ACVR1 NM_001111067.4(ACVR1):c.525T>A (p.Val175=)SNV Uncertain significance 893615 2:158634661-158634661 2:157778149-157778149
20 ACVR1 NM_001111067.4(ACVR1):c.1029G>A (p.Leu343=)SNV Uncertain significance 892813 2:158622470-158622470 2:157765958-157765958
21 ACVR1 NM_001111067.4(ACVR1):c.*137C>TSNV Uncertain significance 894786 2:158593906-158593906 2:157737394-157737394
22 ACVR1 NM_001111067.4(ACVR1):c.*182C>TSNV Uncertain significance 893875 2:158593861-158593861 2:157737349-157737349
23 ACVR1 NM_001111067.4(ACVR1):c.*751T>GSNV Uncertain significance 893590 2:158593292-158593292 2:157736780-157736780
24 ACVR1 NM_001111067.4(ACVR1):c.*752A>GSNV Uncertain significance 893589 2:158593291-158593291 2:157736779-157736779
25 ACVR1 NM_001111067.4(ACVR1):c.*1036deldeletion Uncertain significance 331672 rs886054984 2:158593007-158593007 2:157736495-157736495
26 ACVR1 NM_001111067.4(ACVR1):c.*711A>GSNV Uncertain significance 331675 rs550878134 2:158593332-158593332 2:157736820-157736820
27 ACVR1 NC_000002.12:g.157875123G>CSNV Uncertain significance 894298 2:158731635-158731635
28 ACVR1 NM_001111067.4(ACVR1):c.543+2dupduplication Uncertain significance 331696 rs886054988 2:158634640-158634641 2:157778128-157778129
29 ACVR1 NM_001111067.4(ACVR1):c.-55C>TSNV Uncertain significance 331702 rs375327491 2:158674944-158674944 2:157818432-157818432
30 ACVR1 NM_001111067.4(ACVR1):c.*421G>ASNV Uncertain significance 331678 rs761727358 2:158593622-158593622 2:157737110-157737110
31 ACVR1 NM_001111067.4(ACVR1):c.*250C>GSNV Uncertain significance 331681 rs886054986 2:158593793-158593793 2:157737281-157737281
32 ACVR1 NM_001111067.4(ACVR1):c.561G>A (p.Ser187=)SNV Likely benign 331695 rs377367232 2:158630682-158630682 2:157774170-157774170
33 ACVR1 NM_001111067.4(ACVR1):c.1395+5G>ASNV Likely benign 748980 2:158594947-158594947 2:157738435-157738435
34 ACVR1 NM_001111067.4(ACVR1):c.644-3T>CSNV Likely benign 331693 rs745601993 2:158627029-158627029 2:157770517-157770517
35 ACVR1 NM_001111067.4(ACVR1):c.141C>G (p.His47Gln)SNV Benign/Likely benign 331698 rs34056189 2:158637039-158637039 2:157780527-157780527
36 ACVR1 NM_001111067.4(ACVR1):c.-53C>TSNV Benign 331701 rs73966130 2:158674942-158674942 2:157818430-157818430
37 ACVR1 NM_001111067.4(ACVR1):c.*358G>ASNV Benign 331679 rs79598188 2:158593685-158593685 2:157737173-157737173
38 ACVR1 NM_001111067.4(ACVR1):c.1513T>C (p.Leu505=)SNV Benign 331688 rs3738927 2:158594060-158594060 2:157737548-157737548
39 ACVR1 NM_001111067.4(ACVR1):c.1131C>T (p.Gly377=)SNV Benign 331690 rs56189710 2:158617525-158617525 2:157761013-157761013
40 ACVR1 NM_001111067.4(ACVR1):c.1086C>A (p.Ser362=)SNV Benign 331691 rs149498219 2:158617570-158617570 2:157761058-157761058
41 ACVR1 NM_001111067.4(ACVR1):c.643+7C>TSNV Benign 331694 rs12105152 2:158630593-158630593 2:157774081-157774081
42 ACVR1 NM_001111067.4(ACVR1):c.99C>T (p.Tyr33=)SNV Benign 331699 rs201453468 2:158637081-158637081 2:157780569-157780569
43 ACVR1 NM_001111067.4(ACVR1):c.-13A>GSNV Benign 331700 rs113455580 2:158674902-158674902 2:157818390-157818390
44 ACVR1 NM_001111067.4(ACVR1):c.450A>G (p.Lys150=)SNV Benign 331697 rs774878576 2:158634736-158634736 2:157778224-157778224
45 ACVR1 NM_001111067.4(ACVR1):c.-182-10C>TSNV Benign 893907 2:158675081-158675081 2:157818569-157818569
46 ACVR1 NM_001111067.4(ACVR1):c.690G>A (p.Glu230=)SNV Benign 257466 rs1146031 2:158626980-158626980 2:157770468-157770468
47 ACVR1 NM_001111067.4(ACVR1):c.270C>T (p.Ala90=)SNV Benign 257464 rs2227861 2:158636910-158636910 2:157780398-157780398
48 ACVR1 NM_001111067.4(ACVR1):c.44C>G (p.Ala15Gly)SNV Benign 257465 rs13406336 2:158655962-158655962 2:157799450-157799450
49 ACVR1 NM_001111067.4(ACVR1):c.*791A>TSNV Benign 331673 rs74392193 2:158593252-158593252 2:157736740-157736740
50 ACVR1 NM_001111067.4(ACVR1):c.*762A>GSNV Benign 331674 rs112908089 2:158593281-158593281 2:157736769-157736769

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

73
# 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 rs387906588
6 ACVR1 p.Gly328Trp VAR_058423 rs387906588
7 ACVR1 p.Gly356Asp VAR_058424 rs121912679
8 ACVR1 p.Arg375Pro VAR_058425 rs387906590

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 KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

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

(show top 50) (show all 97)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.24 SMAD7 SMAD5 SMAD1 NOG NFKB1 MAPK14
2
Show member pathways
13.84 SMAD5 SMAD1 NFKB1 MAPK14 MAPK1 FOS
3
Show member pathways
13.72 NFKB1 MAPK14 MAPK1 FOS BMPR1B BMPR1A
4
Show member pathways
13.59 SMAD7 SMAD5 SMAD1 NFKB1 MAPK14 MAPK1
5
Show member pathways
13.46 NFKB1 MAPK14 FOS BMPR1B BMPR1A BMP4
6
Show member pathways
13.33 NFKB1 MAPK1 FOS BMPR1B BMPR1A BMP4
7
Show member pathways
13.09 NFKB1 MAPK14 MAPK1 FOS BMP4 BMP2
8
Show member pathways
13.09 NFKB1 MAPK14 MAPK1 FOS FKBP1A BMP4
9 12.89 NFKB1 MAPK1 FOS BMP4 BMP2
10
Show member pathways
12.7 SMAD5 SMAD1 NFKB1 MAPK14 MAPK1 FOS
11
Show member pathways
12.59 SMAD1 NOG BMPR1A BMP4 ACVR2A ACVR1
12
Show member pathways
12.55 SMAD7 SMAD5 SMAD1 NFKB1 MAPK14 MAPK1
13
Show member pathways
12.55 SMAD5 SMAD1 NOG MAPK14 BMPR1B BMPR1A
14
Show member pathways
12.53 NFKB1 MAPK14 MAPK1 FOS
15
Show member pathways
12.51 NFKB1 MAPK14 BMPR1B BMPR1A ACVR1
16
Show member pathways
12.49 NFKB1 MAPK14 MAPK1 FOS
17
Show member pathways
12.47 NFKB1 MAPK14 MAPK1 FOS
18
Show member pathways
12.46 MAPK14 MAPK1 FOS BMP4 BMP2 BMP1
19
Show member pathways
12.45 NFKB1 MAPK14 MAPK1 FOS
20
Show member pathways
12.45 NFKB1 MAPK14 MAPK1 FOS
21
Show member pathways
12.44 NFKB1 MAPK14 MAPK1 FOS
22 12.39 NFKB1 MSX2 MAPK1 FOS
23
Show member pathways
12.39 NFKB1 MAPK14 MAPK1 FOS
24
Show member pathways
12.38 NFKB1 MAPK14 MAPK1 FOS
25
Show member pathways
12.36 NFKB1 MAPK14 MAPK1 FOS
26
Show member pathways
12.36 NFKB1 MAPK1 BMP4 BMP2
27 12.36 NFKB1 MAPK14 MAPK1 FOS
28
Show member pathways
12.35 NFKB1 MAPK14 MAPK1 FOS
29
Show member pathways
12.35 NFKB1 MAPK14 MAPK1 FOS
30 12.32 NFKB1 MAPK14 MAPK1 FOS
31
Show member pathways
12.31 NFKB1 MAPK14 MAPK1 FOS
32 12.31 SMAD5 SMAD1 ID3 BMP4 ACVR1
33
Show member pathways
12.26 NFKB1 MAPK14 MAPK1 FOS
34
Show member pathways
12.23 MAPK14 BMPR1B BMPR1A ACVR1
35 12.23 SMAD7 SMAD1 ID1 BMPR1B BMPR1A BMP4
36 12.22 SMAD7 SMAD1 NFKB1 MAPK1 BMPR1A
37 12.2 NFKB1 MAPK14 FOS BMPR1B BMPR1A BMP4
38 12.17 NFKB1 MAPK14 MAPK1 FOS BMP2
39 12.14 SMAD7 MAPK14 MAPK1 FOS
40 12.13 ID3 BMP4 BMP2 BMP1
41 12.12 NFKB1 MAPK14 MAPK1 FOS
42
Show member pathways
12.09 NFKB1 MAPK14 MAPK1 FOS
43 12.08 NFKB1 MAPK14 MAPK1 FOS
44 12.04 NFKB1 MAPK14 MAPK1 FOS
45 12 SMAD7 SMAD5 SMAD1 NFKB1 MAPK14 MAPK1
46 11.99 SMAD1 NFKB1 MSX2 ID1 BMP4
47 11.96 SMAD1 MAPK1 FOS
48 11.95 NFKB1 MAPK14 MAPK1
49 11.95 NOG MSX2 BMP4 BMP2
50
Show member pathways
11.94 MAPK14 MAPK1 FOS

GO Terms for Fibrodysplasia Ossificans Progressiva

Cellular components related to Fibrodysplasia Ossificans Progressiva according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.88 SMAD7 SMAD5 SMAD1 NFKB1 MSX2 FOS
2 transcription factor complex GO:0005667 9.67 SMAD7 SMAD5 SMAD1 FOS
3 receptor complex GO:0043235 9.62 BMPR1B BMPR1A ACVR2A ACVR1
4 HFE-transferrin receptor complex GO:1990712 9.26 BMPR1B BMPR1A
5 SMAD protein complex GO:0071141 9.16 SMAD5 SMAD1
6 activin receptor complex GO:0048179 8.96 ACVR2A ACVR1
7 BMP receptor complex GO:0070724 8.62 BMP2 ACVR1

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

(show top 50) (show all 87)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.34 SMAD7 SMAD5 SMAD1 NFKB1 MSX2 MAPK14
2 multicellular organism development GO:0007275 10.29 NOG MSX2 ID3 ID1 BMP4 BMP2
3 cell differentiation GO:0030154 10.28 NOG ID3 ID1 BMPR1B BMPR1A BMP4
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.26 SMAD7 SMAD5 NOG NFKB1 MSX2 ID3
5 positive regulation of transcription, DNA-templated GO:0045893 10.22 SMAD5 NFKB1 MAPK1 FOS BMPR1A BMP4
6 positive regulation of transcription by RNA polymerase II GO:0045944 10.22 SMAD7 SMAD5 SMAD1 NOG NFKB1 MAPK14
7 phosphorylation GO:0016310 10.21 MAPK14 MAPK1 BMPR1B BMPR1A ACVR2A ACVR1
8 protein phosphorylation GO:0006468 10.21 SMAD5 SMAD1 MAPK14 MAPK1 BMPR1B BMPR1A
9 negative regulation of transcription, DNA-templated GO:0045892 10.19 NFKB1 MSX2 ID3 ID1 BMP4 BMP2
10 positive regulation of gene expression GO:0010628 10.19 SMAD1 NOG MAPK14 MAPK1 ID3 ID1
11 inflammatory response GO:0006954 10.13 SMAD1 NFKB1 FOS BMPR1B BMP2
12 negative regulation of gene expression GO:0010629 10.12 NOG NFKB1 ID3 ID1 BMP4 BMP2
13 heart development GO:0007507 10.11 MAPK1 ID3 ID1 BMPR1A BMP4 BMP2
14 angiogenesis GO:0001525 10.06 MAPK14 ID1 BMP4 ACVR1
15 positive regulation of cell migration GO:0030335 10.06 MAPK1 BMP4 BMP2 ACVR1
16 in utero embryonic development GO:0001701 10.05 NOG BMPR1A BMP2 ACVR1
17 skeletal system development GO:0001501 10.05 NOG BMPR1B BMP4 BMP2 BMP1
18 ossification GO:0001503 10.02 SMAD5 MSX2 BMP4 BMP2 BMP1
19 transforming growth factor beta receptor signaling pathway GO:0007179 10 SMAD7 SMAD5 SMAD1 ID1 FOS BMPR1A
20 osteoblast differentiation GO:0001649 9.99 NOG MSX2 BMP4 BMP2
21 SMAD protein signal transduction GO:0060395 9.98 SMAD5 SMAD1 FOS BMP4 BMP2
22 positive regulation of epithelial cell proliferation GO:0050679 9.97 NOG ID1 BMPR1A BMP4
23 embryonic digit morphogenesis GO:0042733 9.96 NOG MSX2 BMPR1A BMP4
24 outflow tract morphogenesis GO:0003151 9.95 NOG MSX2 BMPR1A BMP4
25 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.95 BMPR1A BMP4 BMP2 ACVR2A ACVR1
26 dorsal/ventral pattern formation GO:0009953 9.94 NOG BMPR1B BMPR1A ACVR1
27 negative regulation of DNA-binding transcription factor activity GO:0043433 9.93 SMAD7 ID3 ID1
28 mesoderm formation GO:0001707 9.93 NOG BMPR1A BMP4 ACVR1
29 chondrocyte differentiation GO:0002062 9.93 MAPK14 BMPR1B BMPR1A BMP4 BMP2
30 positive regulation of protein binding GO:0032092 9.92 FKBP1A BMP4 BMP2
31 cellular response to organic cyclic compound GO:0071407 9.92 SMAD5 SMAD1 BMP2
32 bone development GO:0060348 9.92 SMAD5 SMAD1 BMP4
33 ureteric bud development GO:0001657 9.92 SMAD7 SMAD5 SMAD1 NOG BMP4
34 odontogenesis of dentin-containing tooth GO:0042475 9.91 BMPR1A BMP4 BMP2
35 outflow tract septum morphogenesis GO:0003148 9.91 MSX2 BMPR1A BMP4 ACVR1
36 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.91 SMAD1 FOS BMPR1A BMP4 BMP2
37 positive regulation of bone mineralization GO:0030501 9.91 BMPR1B BMPR1A BMP4 BMP2 ACVR2A ACVR1
38 cellular response to growth factor stimulus GO:0071363 9.91 MSX2 BMPR1B BMPR1A BMP4 BMP2 ACVR2A
39 cellular response to BMP stimulus GO:0071773 9.91 SMAD5 SMAD1 NOG BMPR1B BMPR1A BMP4
40 negative regulation of osteoblast differentiation GO:0045668 9.9 NOG ID3 ID1
41 positive regulation of cell differentiation GO:0045597 9.9 BMPR1B BMP4 BMP2
42 lung morphogenesis GO:0060425 9.9 NOG MAPK1 ID1 BMP4
43 embryonic skeletal system development GO:0048706 9.89 NOG BMP4 ACVR2A
44 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.89 MAPK14 BMPR1B BMPR1A ACVR2A ACVR1
45 ventricular septum morphogenesis GO:0060412 9.88 SMAD7 NOG ACVR1
46 positive regulation of cardiac muscle cell proliferation GO:0060045 9.88 MAPK14 MAPK1 BMPR1A
47 odontogenesis GO:0042476 9.88 MSX2 ID3 BMP4
48 endocardial cushion morphogenesis GO:0003203 9.88 NOG BMPR1A BMP2 ACVR1
49 positive regulation of cartilage development GO:0061036 9.88 SMAD1 BMPR1B BMP4 BMP2 BMP1
50 endoderm development GO:0007492 9.87 NOG BMPR1A BMP4

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.41 SMAD7 SMAD5 SMAD1 NOG NFKB1 MSX2
2 kinase activity GO:0016301 9.97 MAPK14 MAPK1 BMPR1B BMPR1A ACVR2A ACVR1
3 protein kinase activity GO:0004672 9.93 MAPK14 MAPK1 BMPR1B BMPR1A ACVR2A ACVR1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.91 SMAD7 SMAD5 SMAD1 NFKB1 MSX2 ID3
5 protein serine/threonine kinase activity GO:0004674 9.88 MAPK14 MAPK1 BMPR1B BMPR1A ACVR2A ACVR1
6 transcription regulatory region DNA binding GO:0044212 9.86 SMAD7 NFKB1 MSX2 FOS
7 transcription factor binding GO:0008134 9.85 NFKB1 MSX2 MAPK1 ID3 ID1 FOS
8 BMP receptor binding GO:0070700 9.58 BMP4 BMP2
9 co-receptor binding GO:0039706 9.58 BMP4 BMP2
10 I-SMAD binding GO:0070411 9.57 SMAD7 SMAD1
11 type I transforming growth factor beta receptor binding GO:0034713 9.55 SMAD7 FKBP1A
12 DEAD/H-box RNA helicase binding GO:0017151 9.54 SMAD5 SMAD1
13 transcription regulator activity GO:0140110 9.52 ID3 ID1
14 BMP receptor activity GO:0098821 9.51 BMPR1A ACVR2A
15 transforming growth factor beta receptor activity, type I GO:0005025 9.5 BMPR1B BMPR1A ACVR1
16 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 9.48 SMAD5 SMAD1
17 activin binding GO:0048185 9.46 SMAD7 FKBP1A ACVR2A ACVR1
18 SMAD binding GO:0046332 9.35 FKBP1A BMPR1B BMPR1A BMP2 ACVR1
19 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.92 BMPR1B BMPR1A ACVR2A ACVR1

Sources for Fibrodysplasia Ossificans Progressiva

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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43 MeSH
44 MESH via Orphanet
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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