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 57 12 73 25 20 43 58 72 36 13 54 15 39 70
Myositis Ossificans Progressiva 12 73 25 20 43 58 32
Progressive Myositis Ossificans 12 20 43 29 6
Fop 57 20 43 58 72
Progressive Ossifying Myositis 12 25 20 43
Myositis Ossificans 43 72 44 70
Stone Man Syndrome 12 58
Myositis Ossificans Progressive 72
Man of Stone 72

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®:

57 (Updated 20-May-2021)
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:

25
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® 57 135100
KEGG 36 H00430
ICD9CM 34 728.11
MeSH 44 D009221
NCIt 50 C3040
SNOMED-CT 67 82725007
ICD10 32 M61.1
MESH via Orphanet 45 D009221
ICD10 via Orphanet 33 M61.1
UMLS via Orphanet 71 C0016037
Orphanet 58 ORPHA337
MedGen 41 C0016037
UMLS 70 C0016037 C0027122

Summaries for Fibrodysplasia Ossificans Progressiva

MedlinePlus Genetics : 43 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 ankylosis. 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 heart, and related phenotypes are abnormal vertebral morphology and spinal rigidity

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.

GARD : 20 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® : 57 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) (Updated 20-May-2021)

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 : 72 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 : 73 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 269)
# Related Disease Score Top Affiliating Genes
1 osseous heteroplasia, progressive 32.4 NOG BMP4 BMP2 ACVR1
2 ankylosis 31.7 NOG BMP4 BMP2 ACVR1
3 myositis ossificans 31.4 FOS BMPR2 BMP4 BMP1 ACVR1
4 synovial chondromatosis 30.8 NOG BMP4 BMP2 ACVR2A
5 osteogenic sarcoma 30.5 MAPK14 FOS BMP2 BMP1
6 brittle bone disorder 30.5 MSX2 BMP4 BMP2 BMP1 ACVR1
7 otosclerosis 30.4 NOG BMP4 BMP2
8 osteochondrodysplasia 30.2 MSX2 BMP4 BMP2 BMP1
9 brachydactyly 30.1 NOG MSX2 BMPR1B BMPR1A BMP2
10 chromosome 2q35 duplication syndrome 30.0 NOG MSX2 BMPR1B BMP4 BMP2
11 pulmonary hypertension 30.0 SMAD1 BMPR2 BMPR1B BMPR1A BMP4 BMP2
12 exostoses, multiple, type i 11.4
13 bunion 11.0
14 myositis 10.9
15 connective tissue disease 10.7
16 scoliosis 10.6
17 spondyloarthropathy 1 10.5
18 inflammatory spondylopathy 10.5
19 spondylitis 10.5
20 fibromatosis 10.5
21 osteochondroma 10.5
22 respiratory failure 10.5
23 alopecia 10.5
24 torticollis 10.4
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
26 hereditary lymphedema i 10.4
27 exostosis 10.4
28 arthropathy 10.4
29 bone disease 10.3
30 diffuse midline glioma, h3 k27m-mutant 10.3
31 sensorineural hearing loss 10.3
32 osteomyelitis 10.3
33 mumps 10.3
34 klippel-feil syndrome 10.3
35 pertussis 10.3
36 tetanus 10.3
37 diphtheria 10.3
38 hyperostosis 10.3
39 basal cell carcinoma 10.3
40 myopathy 10.3
41 nephrolithiasis 10.3
42 fasciitis 10.3
43 temporomandibular ankylosis 10.3
44 back pain 10.3
45 myoclonus 10.3
46 extraosseous osteosarcoma 10.3
47 chondrosarcoma 10.3
48 aneurysmal bone cysts 10.3
49 juxtacortical osteosarcoma 10.3
50 poliomyelitis 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 spinal rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0003306
3 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
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 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
10 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
11 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
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 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
16 synostosis of joints 58 31 occasional (7.5%) Occasional (29-5%) HP:0100240
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 seizures 58 Occasional (29-5%)
24 scoliosis 31 HP:0002650
25 widely spaced teeth 31 HP:0000687
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.98 ACVR1 BMPR1B MAPK1 ACVR2A BMPR2
2 Decreased substrate adherent cell growth GR00193-A-2 9.98 BMPR1A
3 Decreased substrate adherent cell growth GR00193-A-3 9.98 ACVR1 BMPR1A MAPK1
4 Decreased substrate adherent cell growth GR00193-A-4 9.98 ACVR1 BMPR1A BMPR1B MAPK1
5 Decreased viability GR00173-A 9.5 BMPR2
6 Decreased viability GR00221-A-1 9.5 BMPR2 MAPK14
7 Decreased viability GR00221-A-2 9.5 ACVR2A MAPK14
8 Decreased viability GR00221-A-3 9.5 BMPR1B BMPR2
9 Decreased viability GR00221-A-4 9.5 BMPR2
10 Decreased viability GR00249-S 9.5 BMPR2
11 Decreased viability GR00301-A 9.5 ACVR2A BMPR1B BMPR2 MAPK14
12 Decreased viability GR00342-S-1 9.5 BMPR1B
13 Decreased viability GR00386-A-1 9.5 MAPK14
14 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.46 ACVR2A BMPR1A BMPR1B MAPK1
15 Decreased cell viability after pRB stimulation GR00230-A-1 9.26 BMPR1A BMPR2

MGI Mouse Phenotypes related to Fibrodysplasia Ossificans Progressiva:

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.57 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
2 embryo MP:0005380 10.56 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
3 growth/size/body region MP:0005378 10.54 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
4 cellular MP:0005384 10.53 ACVR1 ACVR2A BMP2 BMP4 BMPR1A BMPR1B
5 mortality/aging MP:0010768 10.45 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
6 craniofacial MP:0005382 10.44 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
7 digestive/alimentary MP:0005381 10.44 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
8 homeostasis/metabolism MP:0005376 10.44 ACVR1 ACVR2A BMP1 BMP2 BMP4 BMPR1A
9 endocrine/exocrine gland MP:0005379 10.39 ACVR2A BMP4 BMPR1A BMPR1B FOS ID1
10 hematopoietic system MP:0005397 10.39 ACVR2A BMP1 BMP2 BMP4 BMPR1A BMPR2
11 immune system MP:0005387 10.34 ACVR1 ACVR2A BMP1 BMP2 BMPR1A BMPR2
12 nervous system MP:0003631 10.33 ACVR1 ACVR2A BMP2 BMP4 BMPR1A BMPR1B
13 muscle MP:0005369 10.3 ACVR1 BMP1 BMP4 BMPR1A BMPR2 FKBP1A
14 integument MP:0010771 10.25 ACVR2A BMP4 BMPR1A BMPR2 FKBP1A FOS
15 normal MP:0002873 10.21 BMP2 BMP4 BMPR1A BMPR1B BMPR2 FKBP1A
16 limbs/digits/tail MP:0005371 10.19 ACVR1 BMP1 BMP2 BMP4 BMPR1A BMPR1B
17 hearing/vestibular/ear MP:0005377 10.16 ACVR1 BMP2 BMP4 BMPR1A FOS MAPK1
18 reproductive system MP:0005389 10.1 ACVR2A BMP2 BMP4 BMPR1A BMPR1B FOS
19 neoplasm MP:0002006 10.09 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 BMPR2 FKBP1A ID1
22 pigmentation MP:0001186 9.72 ACVR2A BMPR1A BMPR1B BMPR2 MSX2
23 vision/eye MP:0005391 9.36 ACVR2A BMP4 BMPR1A BMPR1B BMPR2 FOS

Drugs & Therapeutics for Fibrodysplasia Ossificans Progressiva

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538 444795
2
Saracatinib Investigational Phase 2 379231-04-6
3
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
4 Psychotropic Drugs Phase 1
5 Hypnotics and Sedatives Phase 1
6 Anesthetics, General Phase 1
7 Anesthetics Phase 1
8 Anesthetics, Intravenous Phase 1
9 Anti-Anxiety Agents Phase 1
10 GABA Modulators Phase 1
11 Neurotransmitter Agents Phase 1

Interventional clinical trials:

(show all 15)
# 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 Evaluation of Efficacy and Safety of Garetosmab in Japanese Adult Patients With Fibrodysplasia Ossificans Progressiva Not yet recruiting NCT04577820 Phase 3 garetosmab
3 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
4 Saracatinib Trial TO Prevent FOP Recruiting NCT04307953 Phase 2 AZD0530 Difumarate;Matching placebo
5 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
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 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
8 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
9 An Open-Label Study Evaluating the Effect of Food on the Pharmacokinetics of Palovarotene and the Effect of Palovarotene on the Pharmacokinetics of the CYP3A4 Substrate Midazolam in Two Cohorts of Healthy Adult Subjects Completed NCT04829773 Phase 1 Palovarotene;midazolam
10 Single-Ascending Dose Phase 1 Study to Assess the Safety, Tolerability, and Pharmacokinetics of DS-6016a After Subcutaneous Injection in Healthy Japanese Subjects Not yet recruiting NCT04818398 Phase 1 DS-6016a;Placebo
11 A Natural History, Non-Interventional, Two-Part Study in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) Completed NCT02322255
12 Urine Sample Collection From Patients With Fibrodysplasia Ossificans Progressiva (FOP) for Biomarker Analysis Completed NCT02066324
13 FOP Connection: A Global Registry for the Fibrodysplasia Ossificans Progressiva Community Recruiting NCT02745158
14 An International Cross-sectional Survey to Evaluate the Burden of Fibrodysplasia Ossificans Progressiva (FOP) on Patients and Their Families. Recruiting NCT04665323
15 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, Heart, Pons, Bone Marrow, Breast, Skin

Publications for Fibrodysplasia Ossificans Progressiva

Articles related to Fibrodysplasia Ossificans Progressiva:

(show top 50) (show all 912)
# 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 57 25
19085907 2009
2
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. 57 25 6 61
16642017 2006
3
ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: second report. 6 57 61
24259422 2014
4
Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis. 61 57 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. 61 6 57
21044902 2011
6
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. 61 6 57
18830232 2009
7
Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. 61 6 57
19330033 2009
8
A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). 6 57 61
18203193 2008
9
The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. 57 6 61
17351709 2007
10
De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva. 57 6 61
17077940 2006
11
Myositis ossificans progressiva. Clinical features of eight patients and their response to treatment. 57 6 61
818090 1976
12
Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. 25 57 61
16230464 2005
13
Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism. 57 25 61
8834042 1996
14
Genetic aspects of fibrodysplasia ossificans progressiva. 57 25 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. 61 54 57
18990993 2008
16
Hematopoietic stem-cell contribution to ectopic skeletogenesis. 61 6 54
17272450 2007
17
Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP). 54 61 57
18019378 2007
18
Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva. 57 54 61
11977169 2002
19
Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. 57 54 61
11503156 2001
20
Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. 61 57 54
8678932 1996
21
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva. 61 57
27565519 2016
22
Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva. 61 6
22977237 2012
23
The face signature of fibrodysplasia ossificans progressiva. 61 57
22581580 2012
24
Potent inhibition of heterotopic ossification by nuclear retinoic acid receptor-γ agonists. 61 57
21460849 2011
25
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. 6 61
21377447 2011
26
Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA. 57 61
15940369 2005
27
A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family. 61 57
16080294 2005
28
Transgenic mice overexpressing BMP4 develop a fibrodysplasia ossificans progressiva (FOP)-like phenotype. 61 57
15466378 2004
29
Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP). 61 57
11076054 2000
30
Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22. 57 61
11140409 2000
31
Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. 57 61
10631143 2000
32
A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient. 61 57
10665670 1999
33
Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva. 6 61
10441661 1999
34
Fibrodysplasia (myositis) ossificans progressiva: clinicopathological features and natural history. 61 57
8758048 1996
35
A three generation family with fibrodysplasia ossificans progressiva. 57 61
8411056 1993
36
Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family. 61 57
8354680 1993
37
The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients. 57 61
8423182 1993
38
The histopathology of fibrodysplasia ossificans progressiva. An endochondral process. 57 61
7678595 1993
39
[Fibromatosis and fibrodysplasia ossificans progressiva. An avoidable diagnostic error]. 61 57
1530442 1992
40
Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. 61 6
7068725 1982
41
The hand and foot malformations in fibrodysplasia ossificans progressiva. 61 57
7412069 1980
42
Fibrodysplasia ossificans progressiva. A survey of forty-two cases. 61 57
113413 1979
43
Paternal age effect in fibrodysplasia ossificans progressiva. 61 57
287808 1979
44
Histochemical and ultrastructural studies in fibrodysplasia ossificans progressiva (myositis ossificans progressiva). 61 57
141214 1977
45
Alkaline phosphatase activity in cultured skin fibroblasts from fibrodysplasia ossificans progressiva. 61 57
957379 1976
46
Polyostotic fibrous dysplasia and myositis ossificans progressiva. A report of coexistence. 61 6
5033743 1972
47
[Myositis ossificans progressiva]. 61 57
5704614 1968
48
Skeletal malformations and developmental arthropathy in individuals who have fibrodysplasia ossificans progressiva. 61 25
31655222 2020
49
Shared ACVR1 mutations in FOP and DIPG: Opportunities and challenges in extending biological and clinical implications across rare diseases. 61 25
28780023 2018
50
Clinical staging of Fibrodysplasia Ossificans Progressiva (FOP). 25 61
28943457 2018

Variations for Fibrodysplasia Ossificans Progressiva

ClinVar genetic disease variations for Fibrodysplasia Ossificans Progressiva:

6 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACVR1 NM_001111067.4(ACVR1):c.1124G>C (p.Arg375Pro) SNV Pathogenic 29596 rs387906590 GRCh37: 2:158617532-158617532
GRCh38: 2:157761020-157761020
2 ACVR1 NM_001111067.4(ACVR1):c.605G>T (p.Arg202Ile) SNV Pathogenic 29597 rs387906591 GRCh37: 2:158630638-158630638
GRCh38: 2:157774126-157774126
3 ACVR1 NM_001111067.4(ACVR1):c.587T>C (p.Leu196Pro) SNV Pathogenic 208843 rs797045135 GRCh37: 2:158630656-158630656
GRCh38: 2:157774144-157774144
4 ACVR1 NM_001111067.4(ACVR1):c.1067G>A (p.Gly356Asp) SNV Pathogenic 18310 rs121912679 GRCh37: 2:158617589-158617589
GRCh38: 2:157761077-157761077
5 ACVR1 NM_001111067.4(ACVR1):c.774G>C (p.Arg258Ser) SNV Pathogenic 18311 rs121912680 GRCh37: 2:158626896-158626896
GRCh38: 2:157770384-157770384
6 ACVR1 NM_001111067.4(ACVR1):c.982G>A (p.Gly328Arg) SNV Pathogenic 29593 rs387906588 GRCh37: 2:158622517-158622517
GRCh38: 2:157766005-157766005
7 ACVR1 NM_001111067.4(ACVR1):c.982G>T (p.Gly328Trp) SNV Pathogenic 29594 rs387906588 GRCh37: 2:158622517-158622517
GRCh38: 2:157766005-157766005
8 BMPR2 NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys) SNV Pathogenic 977222 GRCh37: 2:203395675-203395675
GRCh38: 2:202530952-202530952
9 ACVR1 NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) SNV Pathogenic 18309 rs121912678 GRCh37: 2:158630626-158630626
GRCh38: 2:157774114-157774114
10 ACVR1 NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu) SNV Likely pathogenic 29595 rs387906589 GRCh37: 2:158622516-158622516
GRCh38: 2:157766004-157766004
11 ACVR1 NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly) SNV Likely pathogenic 216885 rs863224846 GRCh37: 2:158626898-158626898
GRCh38: 2:157770386-157770386
12 ACVR1 NM_001111067.4(ACVR1):c.820C>T (p.His274Tyr) SNV Uncertain significance 331692 rs375487177 GRCh37: 2:158622679-158622679
GRCh38: 2:157766167-157766167
13 ACVR1 NM_001111067.4(ACVR1):c.*421G>A SNV Uncertain significance 331678 rs761727358 GRCh37: 2:158593622-158593622
GRCh38: 2:157737110-157737110
14 ACVR1 NM_001111067.4(ACVR1):c.*1036del Deletion Uncertain significance 331672 rs886054984 GRCh37: 2:158593007-158593007
GRCh38: 2:157736495-157736495
15 ACVR1 NM_001111067.4(ACVR1):c.*711A>G SNV Uncertain significance 331675 rs550878134 GRCh37: 2:158593332-158593332
GRCh38: 2:157736820-157736820
16 ACVR1 NM_001111067.4(ACVR1):c.*250C>G SNV Uncertain significance 331681 rs886054986 GRCh37: 2:158593793-158593793
GRCh38: 2:157737281-157737281
17 ACVR1 NM_001111067.4(ACVR1):c.*210A>C SNV Uncertain significance 331682 rs886054987 GRCh37: 2:158593833-158593833
GRCh38: 2:157737321-157737321
18 ACVR1 NM_001111067.4(ACVR1):c.543+2dup Duplication Uncertain significance 331696 rs886054988 GRCh37: 2:158634640-158634641
GRCh38: 2:157778128-157778129
19 ACVR1 NM_001111067.4(ACVR1):c.*500G>A SNV Uncertain significance 331677 rs886054985 GRCh37: 2:158593543-158593543
GRCh38: 2:157737031-157737031
20 ACVR1 NM_001111067.4(ACVR1):c.*314A>C SNV Uncertain significance 331680 rs140005003 GRCh37: 2:158593729-158593729
GRCh38: 2:157737217-157737217
21 ACVR1 NM_001111067.4(ACVR1):c.1029G>A (p.Leu343=) SNV Uncertain significance 892813 GRCh37: 2:158622470-158622470
GRCh38: 2:157765958-157765958
22 ACVR1 NM_001111067.4(ACVR1):c.*752A>G SNV Uncertain significance 893589 GRCh37: 2:158593291-158593291
GRCh38: 2:157736779-157736779
23 ACVR1 NM_001111067.4(ACVR1):c.*751T>G SNV Uncertain significance 893590 GRCh37: 2:158593292-158593292
GRCh38: 2:157736780-157736780
24 ACVR1 NM_001111067.4(ACVR1):c.525T>A (p.Val175=) SNV Uncertain significance 893615 GRCh37: 2:158634661-158634661
GRCh38: 2:157778149-157778149
25 ACVR1 NM_001111067.4(ACVR1):c.126C>T (p.Cys42=) SNV Uncertain significance 893617 GRCh37: 2:158637054-158637054
GRCh38: 2:157780542-157780542
26 ACVR1 NM_001111067.4(ACVR1):c.*182C>T SNV Uncertain significance 893875 GRCh37: 2:158593861-158593861
GRCh38: 2:157737349-157737349
27 ACVR1 NM_001111067.4(ACVR1):c.122C>T (p.Ser41Phe) SNV Uncertain significance 893905 GRCh37: 2:158637058-158637058
GRCh38: 2:157780546-157780546
28 ACVR1 NM_001111067.4(ACVR1):c.-99G>A SNV Uncertain significance 893906 GRCh37: 2:158674988-158674988
GRCh38: 2:157818476-157818476
29 ACVR1 NM_001111067.4(ACVR1):c.-183+822G>A SNV Uncertain significance 894297 GRCh37: 2:158731486-158731486
GRCh38: 2:157874974-157874974
30 ACVR1 NM_001111067.4(ACVR1):c.-183+673C>G SNV Uncertain significance 894298 GRCh37: 2:158731635-158731635
GRCh38: 2:157875123-157875123
31 ACVR1 NM_001111067.4(ACVR1):c.*137C>T SNV Uncertain significance 894786 GRCh37: 2:158593906-158593906
GRCh38: 2:157737394-157737394
32 ACVR1 NM_001111067.4(ACVR1):c.-55C>T SNV Uncertain significance 331702 rs375327491 GRCh37: 2:158674944-158674944
GRCh38: 2:157818432-157818432
33 ACVR1 NM_001111067.4(ACVR1):c.1073C>A (p.Ala358Glu) SNV Uncertain significance 973273 GRCh37: 2:158617583-158617583
GRCh38: 2:157761071-157761071
34 ACVR1 NM_001111067.4(ACVR1):c.561G>A (p.Ser187=) SNV Likely benign 331695 rs377367232 GRCh37: 2:158630682-158630682
GRCh38: 2:157774170-157774170
35 ACVR1 NM_001111067.4(ACVR1):c.1395+5G>A SNV Likely benign 748980 rs762094464 GRCh37: 2:158594947-158594947
GRCh38: 2:157738435-157738435
36 ACVR1 NM_001111067.4(ACVR1):c.644-3T>C SNV Likely benign 331693 rs745601993 GRCh37: 2:158627029-158627029
GRCh38: 2:157770517-157770517
37 ACVR1 NM_001111067.4(ACVR1):c.1086C>A (p.Ser362=) SNV Benign 331691 rs149498219 GRCh37: 2:158617570-158617570
GRCh38: 2:157761058-157761058
38 ACVR1 NM_001111067.4(ACVR1):c.*762A>G SNV Benign 331674 rs112908089 GRCh37: 2:158593281-158593281
GRCh38: 2:157736769-157736769
39 ACVR1 NM_001111067.4(ACVR1):c.-13A>G SNV Benign 331700 rs113455580 GRCh37: 2:158674902-158674902
GRCh38: 2:157818390-157818390
40 ACVR1 NM_001111067.4(ACVR1):c.*183G>A SNV Benign 331683 rs113598201 GRCh37: 2:158593860-158593860
GRCh38: 2:157737348-157737348
41 ACVR1 NM_001111067.4(ACVR1):c.141C>G (p.His47Gln) SNV Benign 331698 rs34056189 GRCh37: 2:158637039-158637039
GRCh38: 2:157780527-157780527
42 ACVR1 NM_001111067.4(ACVR1):c.*686T>C SNV Benign 331676 rs12997 GRCh37: 2:158593357-158593357
GRCh38: 2:157736845-157736845
43 ACVR1 NM_001111067.4(ACVR1):c.*358G>A SNV Benign 331679 rs79598188 GRCh37: 2:158593685-158593685
GRCh38: 2:157737173-157737173
44 ACVR1 NM_001111067.4(ACVR1):c.1513T>C (p.Leu505=) SNV Benign 331688 rs3738927 GRCh37: 2:158594060-158594060
GRCh38: 2:157737548-157737548
45 ACVR1 NM_001111067.4(ACVR1):c.-53C>T SNV Benign 331701 rs73966130 GRCh37: 2:158674942-158674942
GRCh38: 2:157818430-157818430
46 ACVR1 NM_001111067.4(ACVR1):c.*152G>A SNV Benign 331684 rs373670847 GRCh37: 2:158593891-158593891
GRCh38: 2:157737379-157737379
47 ACVR1 NM_001111067.4(ACVR1):c.*45G>T SNV Benign 331687 rs12936 GRCh37: 2:158593998-158593998
GRCh38: 2:157737486-157737486
48 ACVR1 NM_001111067.4(ACVR1):c.99C>T (p.Tyr33=) SNV Benign 331699 rs201453468 GRCh37: 2:158637081-158637081
GRCh38: 2:157780569-157780569
49 ACVR1 NM_001111067.4(ACVR1):c.*791A>T SNV Benign 331673 rs74392193 GRCh37: 2:158593252-158593252
GRCh38: 2:157736740-157736740
50 ACVR1 NM_001111067.4(ACVR1):c.1131C>T (p.Gly377=) SNV Benign 331690 rs56189710 GRCh37: 2:158617525-158617525
GRCh38: 2:157761013-157761013

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

72
# 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 62)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.2 SMAD7 SMAD5 SMAD1 NOG MAPK14 MAPK1
2
Show member pathways
13.83 SMAD5 SMAD1 MAPK14 MAPK1 FOS BMPR2
3
Show member pathways
13.69 MAPK14 MAPK1 FOS BMPR2 BMPR1B BMPR1A
4
Show member pathways
13.56 SMAD7 SMAD5 SMAD1 MAPK14 MAPK1 FOS
5
Show member pathways
13.43 MAPK14 FOS BMPR2 BMPR1B BMPR1A BMP4
6
Show member pathways
13.31 MAPK1 FOS BMPR2 BMPR1B BMPR1A BMP4
7
Show member pathways
13.07 MAPK14 MAPK1 FOS FKBP1A BMP4 BMP2
8
Show member pathways
12.74 SMAD5 SMAD1 MAPK14 MAPK1 FOS BMPR2
9
Show member pathways
12.73 MAPK1 FOS BMP4 BMP2 BMP1
10
Show member pathways
12.56 SMAD1 NOG BMPR2 BMPR1A BMP4 ACVR2A
11
Show member pathways
12.44 MAPK14 BMPR1B BMPR1A ACVR1
12
Show member pathways
12.43 MAPK14 MAPK1 FOS BMP4 BMP2 BMP1
13
Show member pathways
12.34 SMAD5 SMAD1 NOG MAPK14 BMPR2 BMPR1B
14 12.3 SMAD5 SMAD1 ID3 BMPR2 BMP4 ACVR1
15 12.28 SMAD7 SMAD1 ID1 BMPR2 BMPR1B BMPR1A
16
Show member pathways
12.2 MAPK14 BMPR1B BMPR1A ACVR1
17 12.2 MAPK14 FOS BMPR2 BMPR1B BMPR1A BMP4
18 12.19 SMAD7 SMAD1 MAPK1 BMPR2 BMPR1A
19 12.14 MAPK14 MAPK1 FOS BMP2
20 12.1 SMAD7 MAPK14 MAPK1 FOS
21 12.09 ID3 BMP4 BMP2 BMP1
22 11.98 SMAD7 SMAD5 SMAD1 MAPK14 MAPK1 FOS
23 11.96 SMAD1 MSX2 ID1 BMP4
24 11.93 MAPK14 MAPK1 BMP2
25 11.92 NOG MSX2 BMP4 BMP2
26 11.91 SMAD1 MAPK1 FOS
27
Show member pathways
11.89 MAPK14 MAPK1 FOS
28 11.89 SMAD5 SMAD1 MAPK14 MAPK1 ID3 ID1
29
Show member pathways
11.88 MAPK1 ID1 FOS
30 11.86 MAPK14 MAPK1 FOS
31
Show member pathways
11.84 MAPK14 FKBP1A BMPR2 BMPR1A BMP1
32
Show member pathways
11.82 MAPK14 MAPK1 FOS
33
Show member pathways
11.81 SMAD7 SMAD5 SMAD1 NOG MAPK1 BMPR2
34 11.8 MAPK14 MAPK1 FOS
35 11.79 SMAD7 SMAD5 SMAD1 MAPK14 MAPK1
36 11.78 MAPK14 MAPK1 FOS
37 11.78 SMAD7 MAPK14 MAPK1 FKBP1A
38 11.76 MAPK14 MAPK1 FOS
39 11.74 SMAD7 SMAD5 SMAD1 NOG FOS FKBP1A
40 11.73 FOS BMP4 BMP2 BMP1
41 11.71 MAPK14 MAPK1 FOS
42 11.65 SMAD1 MAPK1 BMPR2 BMPR1A BMP4 BMP2
43 11.62 NOG MAPK14 BMP4 BMP1
44 11.61 MAPK14 MAPK1 FOS
45 11.6 MAPK14 MAPK1 FOS
46 11.51 MAPK14 FOS FKBP1A
47 11.5 MAPK14 MAPK1 FOS
48 11.44 SMAD7 SMAD5 SMAD1 NOG MAPK1 ID3
49
Show member pathways
11.41 SMAD7 SMAD5 SMAD1 MAPK1 ID1 FKBP1A
50
Show member pathways
11.33 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 transcription factor complex GO:0005667 9.71 SMAD7 SMAD5 SMAD1 FOS
2 caveola GO:0005901 9.61 MAPK1 BMPR2 BMPR1A
3 HFE-transferrin receptor complex GO:1990712 9.37 BMPR1B BMPR1A
4 receptor complex GO:0043235 9.35 BMPR2 BMPR1B BMPR1A ACVR2A ACVR1
5 SMAD protein complex GO:0071141 9.32 SMAD5 SMAD1
6 activin receptor complex GO:0048179 9.26 ACVR2A ACVR1
7 BMP receptor complex GO:0070724 9.16 BMP2 ACVR1
8 heteromeric SMAD protein complex GO:0071144 8.8 SMAD7 SMAD5 SMAD1

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

(show top 50) (show all 88)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.29 NOG MSX2 ID3 ID1 BMP4 BMP2
2 cell differentiation GO:0030154 10.29 SMAD7 SMAD5 SMAD1 NOG ID3 ID1
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.29 SMAD7 SMAD5 SMAD1 NOG MAPK14 FOS
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.27 SMAD7 SMAD5 NOG MSX2 ID3 ID1
5 protein phosphorylation GO:0006468 10.24 SMAD5 SMAD1 MAPK14 MAPK1 BMPR2 BMPR1B
6 phosphorylation GO:0016310 10.23 MAPK14 MAPK1 BMPR2 BMPR1B BMPR1A ACVR2A
7 positive regulation of transcription, DNA-templated GO:0045893 10.22 SMAD5 MAPK1 FOS BMP4 BMP2 ACVR1
8 positive regulation of gene expression GO:0010628 10.21 SMAD1 NOG MAPK14 MAPK1 ID3 ID1
9 heart development GO:0007507 10.11 MAPK1 ID3 BMPR1A BMP4 BMP2 ACVR1
10 positive regulation of cell migration GO:0030335 10.06 MAPK1 BMP4 BMP2 ACVR1
11 angiogenesis GO:0001525 10.06 MAPK14 ID1 BMP4 ACVR1
12 in utero embryonic development GO:0001701 10.05 NOG BMPR1A BMP2 ACVR1
13 skeletal system development GO:0001501 10.05 NOG BMPR1B BMP4 BMP2 BMP1
14 transforming growth factor beta receptor signaling pathway GO:0007179 10.05 SMAD7 SMAD5 SMAD1 ID1 FOS BMPR1A
15 ossification GO:0001503 10.03 SMAD5 MSX2 BMP4 BMP2 BMP1
16 osteoblast differentiation GO:0001649 10 NOG MSX2 BMP4 BMP2
17 SMAD protein signal transduction GO:0060395 10 SMAD7 SMAD5 SMAD1 FOS BMP4 BMP2
18 cellular response to growth factor stimulus GO:0071363 10 BMPR2 BMPR1B BMPR1A BMP4 BMP2 ACVR2A
19 chondrocyte differentiation GO:0002062 9.99 MAPK14 BMPR1B BMPR1A BMP4 BMP2
20 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.98 SMAD1 FOS BMPR1A BMP4 BMP2
21 positive regulation of epithelial cell proliferation GO:0050679 9.97 NOG ID1 BMPR1A BMP4
22 ureteric bud development GO:0001657 9.97 SMAD7 SMAD5 SMAD1 NOG BMP4
23 mesoderm formation GO:0001707 9.97 NOG BMPR2 BMPR1A BMP4 ACVR1
24 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.97 BMPR2 BMPR1A BMP4 BMP2 ACVR2A ACVR1
25 outflow tract morphogenesis GO:0003151 9.95 NOG BMPR2 BMPR1A BMP4
26 negative regulation of DNA-binding transcription factor activity GO:0043433 9.94 SMAD7 ID3 ID1
27 dorsal/ventral pattern formation GO:0009953 9.94 NOG BMPR1B BMPR1A ACVR1
28 positive regulation of endothelial cell proliferation GO:0001938 9.93 BMPR2 BMP4 BMP2
29 cellular response to organic cyclic compound GO:0071407 9.93 SMAD5 SMAD1 BMP2
30 positive regulation of protein binding GO:0032092 9.93 FKBP1A BMP4 BMP2
31 ventricular septum morphogenesis GO:0060412 9.92 SMAD7 NOG BMPR2 ACVR1
32 bone development GO:0060348 9.91 SMAD5 SMAD1 BMP4
33 odontogenesis of dentin-containing tooth GO:0042475 9.91 BMPR1A BMP4 BMP2
34 outflow tract septum morphogenesis GO:0003148 9.91 BMPR2 BMPR1A BMP4 ACVR1
35 embryonic digit morphogenesis GO:0042733 9.9 NOG BMPR1A BMP4
36 positive regulation of cell differentiation GO:0045597 9.9 BMPR1B BMP4 BMP2
37 endocardial cushion morphogenesis GO:0003203 9.9 NOG BMPR1A BMP2 ACVR1
38 germ cell development GO:0007281 9.89 SMAD5 BMP4 ACVR1
39 positive regulation of cardiac muscle cell proliferation GO:0060045 9.89 MAPK14 MAPK1 BMPR1A
40 embryonic skeletal system development GO:0048706 9.89 NOG BMP4 ACVR2A
41 pituitary gland development GO:0021983 9.88 NOG BMPR1A BMP4
42 regulation of DNA-binding transcription factor activity GO:0051090 9.88 MAPK14 MAPK1 FOS
43 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.88 MAPK14 BMPR2 BMPR1B BMPR1A ACVR2A ACVR1
44 endoderm development GO:0007492 9.87 NOG BMPR1A BMP4
45 cartilage condensation GO:0001502 9.87 MAPK14 BMPR1B BMP1
46 positive regulation of bone mineralization GO:0030501 9.87 BMPR2 BMPR1B BMPR1A BMP4 BMP2 ACVR2A
47 lung morphogenesis GO:0060425 9.86 NOG MAPK1 BMP4
48 embryonic morphogenesis GO:0048598 9.86 MSX2 BMPR1A BMP4
49 pharyngeal arch artery morphogenesis GO:0061626 9.86 NOG BMPR2 BMPR1A BMP4
50 cartilage development GO:0051216 9.86 SMAD5 SMAD1 NOG BMPR1B BMPR1A BMP4

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.51 SMAD7 SMAD5 SMAD1 NOG MSX2 MAPK14
2 kinase activity GO:0016301 10 MAPK14 MAPK1 BMPR2 BMPR1B BMPR1A ACVR2A
3 protein kinase activity GO:0004672 9.95 MAPK14 MAPK1 BMPR2 BMPR1B BMPR1A ACVR2A
4 protein serine/threonine kinase activity GO:0004674 9.91 MAPK14 MAPK1 BMPR2 BMPR1B BMPR1A ACVR2A
5 growth factor binding GO:0019838 9.65 BMPR2 ACVR2A ACVR1
6 I-SMAD binding GO:0070411 9.61 SMAD7 SMAD5 SMAD1
7 BMP receptor binding GO:0070700 9.56 BMP4 BMP2
8 co-receptor binding GO:0039706 9.55 BMP4 BMP2
9 type I transforming growth factor beta receptor binding GO:0034713 9.52 SMAD7 FKBP1A
10 DEAD/H-box RNA helicase binding GO:0017151 9.51 SMAD5 SMAD1
11 BMP receptor activity GO:0098821 9.5 BMPR2 BMPR1A ACVR2A
12 transcription regulator activity GO:0140110 9.49 ID3 ID1
13 activin binding GO:0048185 9.46 SMAD7 FKBP1A ACVR2A ACVR1
14 transforming growth factor beta receptor activity, type I GO:0005025 9.43 BMPR1B BMPR1A ACVR1
15 SMAD binding GO:0046332 9.35 FKBP1A BMPR1B BMPR1A BMP2 ACVR1
16 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.02 BMPR2 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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