FOP
MCID: FBR011
MIFTS: 65

Fibrodysplasia Ossificans Progressiva (FOP)

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

Aliases & Classifications for Fibrodysplasia Ossificans Progressiva

MalaCards integrated aliases for Fibrodysplasia Ossificans Progressiva:

Name: Fibrodysplasia Ossificans Progressiva 58 12 77 54 26 60 76 38 13 56 15 41 74
Myositis Ossificans Progressiva 12 77 54 26 60
Progressive Myositis Ossificans 12 54 26 30 6
Myositis Ossificans 26 76 45 74
Fop 58 54 60 76
Progressive Ossifying Myositis 12 54 26
Stone Man Syndrome 12 60
Myositis Ossificans Progressive 76
Man of Stone 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
fibrodysplasia ossificans progressiva:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fibrodysplasia Ossificans Progressiva

NIH Rare Diseases : 54 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.

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 PEDF Induced Signaling. The drugs Tretinoin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and bone marrow, 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.

Genetics Home Reference : 26 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 : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Fibrodysplasia ossificans progressiva (FOP) (/ˌfaɪbroʊdɪˈspleɪʒə ɑˈsɪfəˌkænz prəˈgrɛsəvə/) is an... more...

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 110)
# Related Disease Score Top Affiliating Genes
1 osseous heteroplasia, progressive 32.0 ACVR1 BMP2 BMP4 NOG
2 myositis ossificans 31.0 ACVR1 BMP1 FOS
3 ankylosis 30.6 ACVR1 BMP2 BMP4 NOG
4 synovial chondromatosis 30.3 BMP2 BMP4 NOG
5 exostoses, multiple, type i 11.6
6 myositis 10.7
7 spondyloarthropathy 1 10.5
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
9 spondylitis 10.5
10 chromosome 8q22.1 duplication syndrome 10.3
11 nephrolithiasis, calcium oxalate 10.3
12 osteogenic sarcoma 10.3
13 ichthyosis prematurity syndrome 10.3
14 pulmonary hypertension 10.3
15 keloids 10.3
16 nephrolithiasis 10.3
17 scoliosis 10.3
18 osteomyelitis 10.3
19 dermatomyositis 10.3
20 klippel-feil syndrome 10.3
21 sarcoma 10.3
22 pertussis 10.3
23 tetanus 10.3
24 diphtheria 10.3
25 osteopoikilosis 10.3
26 patulous eustachian tube 10.3
27 vascular disease 10.3
28 calcinosis 10.3
29 exostosis 10.3
30 paget's disease of bone 10.3
31 influenza 10.3
32 status asthmaticus 10.3
33 enchondroma 10.3
34 osteochondroma 10.3
35 propriospinal myoclonus 10.3
36 bunion 10.3
37 myoclonus 10.3
38 aneurysmal bone cysts 10.3
39 poliomyelitis 10.3
40 bone marrow cancer 10.2
41 diffuse intrinsic pontine glioma 10.2
42 mccune-albright syndrome 10.2
43 aplastic anemia 10.2
44 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
45 childhood type dermatomyositis 10.2
46 fibrous dysplasia 10.2
47 osteomalacia 10.2
48 hypoparathyroidism 10.2
49 rheumatic disease 10.2
50 pseudohypoparathyroidism 10.2

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:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal vertebral morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0003468
2 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001482
3 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
4 spinal rigidity 60 33 hallmark (90%) Very frequent (99-80%) HP:0003306
5 abnormality of the first metatarsal bone 60 33 hallmark (90%) Very frequent (99-80%) HP:0010054
6 short hallux 60 33 hallmark (90%) Very frequent (99-80%) HP:0010109
7 ectopic ossification in muscle tissue 60 33 hallmark (90%) Very frequent (99-80%) HP:0011987
8 ectopic ossification in ligament tissue 60 33 hallmark (90%) Very frequent (99-80%) HP:0011989
9 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
10 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
11 alopecia 60 33 frequent (33%) Frequent (79-30%) HP:0001596
12 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
13 aplasia/hypoplasia of the phalanges of the hallux 60 33 frequent (33%) Frequent (79-30%) HP:0010058
14 intellectual disability 60 33 very rare (1%) Occasional (29-5%) HP:0001249
15 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
16 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
17 synostosis of joints 60 33 occasional (7.5%) Occasional (29-5%) HP:0100240
18 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
19 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
20 hallux valgus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001822
21 intellectual disability, mild 33 very rare (1%) HP:0001256
22 basal ganglia calcification 33 very rare (1%) HP:0002135
23 scoliosis 33 HP:0002650
24 widely spaced teeth 33 HP:0000687
25 sensorineural hearing impairment 33 HP:0000407
26 respiratory failure 33 HP:0002878
27 conductive hearing impairment 33 HP:0000405
28 short 1st metacarpal 33 HP:0010034
29 hamartoma 33 HP:0010566
30 broad femoral neck 33 HP:0006429
31 metaphyseal widening 33 HP:0003016
32 small cervical vertebral bodies 33 HP:0004629
33 progressive cervical vertebral spine fusion 33 HP:0008449
34 ectopic ossification in tendon tissue 33 HP:0011988

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
small cervical vertebral bodies
progressive cervical vertebral spine fusion

Skin Nails Hair Hair:
alopecia

Skeletal Feet:
hallux valgus
short hallux
malformed first metatarsal
monophalangism of first metatarsal
reduction deficits of halluces (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

Respiratory Lung:
respiratory failure
restrictive pulmonary disease

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

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

MGI Mouse Phenotypes related to Fibrodysplasia Ossificans Progressiva:

47 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.26 ACVR1 BMP1 BMP2 BMP4 BMPR1A FOS
2 cardiovascular system MP:0005385 10.24 ACVR1 BMP1 BMP2 BMP4 BMPR1A ID3
3 growth/size/body region MP:0005378 10.24 ACVR1 BMP1 BMP2 BMP4 BMPR1A FOS
4 craniofacial MP:0005382 10.23 ACVR1 BMP1 BMP2 BMP4 BMPR1A FOS
5 cellular MP:0005384 10.19 ACVR1 BMP2 BMP4 BMPR1A FOS ID3
6 digestive/alimentary MP:0005381 10.17 ACVR1 BMP1 BMP2 BMP4 ID3 MSX2
7 homeostasis/metabolism MP:0005376 10.15 ACVR1 BMP1 BMP2 BMP4 BMPR1A FOS
8 hematopoietic system MP:0005397 10.11 BMP1 BMP2 BMP4 BMPR1A FOS ID3
9 mortality/aging MP:0010768 10.1 ACVR1 BMP1 BMP2 BMP4 BMPR1A FOS
10 endocrine/exocrine gland MP:0005379 10.09 BMP4 BMPR1A FOS ID3 MSX2 NOG
11 immune system MP:0005387 10.08 ACVR1 BMP1 BMP2 BMPR1A FOS ID3
12 hearing/vestibular/ear MP:0005377 10.07 ACVR1 BMP2 BMP4 BMPR1A FOS MSX2
13 limbs/digits/tail MP:0005371 10.03 ACVR1 BMP1 BMP2 BMP4 BMPR1A FOS
14 integument MP:0010771 9.93 BMP4 BMPR1A FOS MSX2 NOG SMAD7
15 nervous system MP:0003631 9.92 ACVR1 BMP2 BMP4 BMPR1A FOS ID3
16 muscle MP:0005369 9.91 ACVR1 BMP1 BMP4 BMPR1A MSX2 NOG
17 normal MP:0002873 9.86 BMP2 BMP4 BMPR1A FOS ID3 MSX2
18 reproductive system MP:0005389 9.7 BMP2 BMP4 BMPR1A FOS ID3 NOG
19 skeleton MP:0005390 9.61 ACVR1 BMP1 BMP2 BMP4 BMPR1A FOS
20 vision/eye MP:0005391 9.1 BMP4 BMPR1A FOS ID3 MSX2 NOG

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 3,Phase 2 302-79-4 444795 5538
2 Pharmaceutical Solutions Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Efficacy and Safety Study of Palovarotene for the Treatment of FOP Active, not recruiting NCT03312634 Phase 3 Palovarotene
2 In-Home Evaluation of Episodic Administration of Palovarotene in Fibrodysplasia Ossificans Progressiva (FOP) Subjects Suspended NCT02521792 Phase 2 Palovarotene
3 A Study to Examine the Safety, Tolerability and Effects on Abnormal Bone Formation of REGN2477 in Patients With Fibrodysplasia Ossificans Progressiva Active, not recruiting NCT03188666 Phase 2 REGN2477;Matching placebo
4 An Open-Label Extension Study of Palovarotene Treatment in FOP Active, not recruiting NCT02279095 Phase 2 Palovarotene dose level 1;Palovarotene dose level 2;Palovarotene dose level 3;Palovarotene dose level 4
5 An Efficacy and Safety Study of Palovarotene to Treat Preosseous Flare-ups in FOP Subjects Completed NCT02190747 Phase 2 Palovarotene;Placebo
6 An Open-Label Extension Study of Palovarotene to Prevent Heterotopic Ossification in FOP Subjects in France Active, not recruiting NCT02979769 Phase 2 Palovarotene dose level 1;Palovarotene dose level 2
7 The Fibrodysplasia Ossificans Progressiva (FOP) Connection Registry Recruiting NCT02745158
8 A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP) Active, not recruiting NCT02322255
9 Urine Sample Collection From FOP Patients Completed NCT02066324
10 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:

# Genetic test Affiliating Genes
1 Progressive Myositis Ossificans 30 ACVR1

Anatomical Context for Fibrodysplasia Ossificans Progressiva

MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

42
Bone, Skeletal Muscle, Bone Marrow, Pons, Skin, Kidney, Smooth Muscle

Publications for Fibrodysplasia Ossificans Progressiva

Articles related to Fibrodysplasia Ossificans Progressiva:

(show top 50) (show all 541)
# Title Authors Year
1
Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes. ( 31053156 )
2019
2
Application of in vitro Drug Metabolism Studies in Chemical Structure Optimization for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP). ( 31068801 )
2019
3
Feasibility of bisphosphonate therapy in an Indian pediatric patient of fibrodysplasia ossificans progressiva. ( 31041177 )
2019
4
Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva. ( 31012264 )
2019
5
Identification of the Identical Human Mutation in ACVR1 in 2 Cats With Fibrodysplasia Ossificans Progressiva. ( 31007133 )
2019
6
Propranolol and ascorbic acid in control of fibrodysplasia ossificans progressiva flare-ups due to accidental falls. ( 30881854 )
2019
7
Evolution of heterotopic bone in fibrodysplasia ossificans progressiva: An [18F]NaF PET/CT study. ( 30858149 )
2019
8
Limb specific Acvr1-knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP). ( 30854720 )
2019
9
The effect of Activin-A on periodontal ligament fibroblasts-mediated osteoclast formation in healthy donors and in patients with fibrodysplasia ossificans progressiva. ( 30417373 )
2019
10
Heterotopic Ossification in Mouse Models of Fibrodysplasia Ossificans Progressiva. ( 30414138 )
2019
11
An Adult Zebrafish Model of Fibrodysplasia Ossificans Progressiva. ( 30414131 )
2019
12
Challenges in the treatment of fibrodysplasia ossificans progressiva. ( 30343406 )
2019
13
Flare-Up After Maxillofacial Surgery in a Patient With Fibrodysplasia Ossificans Progressiva: An [18F]-NaF PET/CT Study and a Systematic Review. ( 30283890 )
2018
14
Mast cell inhibition as a therapeutic approach in fibrodysplasia ossificans progressiva (FOP). ( 28851540 )
2018
15
[18F]NaF PET/CT scan as an early marker of heterotopic ossification in fibrodysplasia ossificans progressiva. ( 28826841 )
2018
16
Imaging assessment of fibrodysplasia ossificans progressiva: Qualitative, quantitative and questionable. ( 28822792 )
2018
17
Acute unilateral hip pain in fibrodysplasia ossificans progressiva (FOP). ( 28822791 )
2018
18
Unresolving trismus following third molar surgery: Report of a case of fibrodysplasia ossificans progressiva with review of literature. ( 28797219 )
2018
19
Heterotopic bone induction via BMP signaling: Potential therapeutic targets for fibrodysplasia ossificans progressiva. ( 28754575 )
2018
20
Application of human induced pluripotent stem cells to model fibrodysplasia ossificans progressiva. ( 28716551 )
2018
21
Periodontal ligament fibroblasts as a cell model to study osteogenesis and osteoclastogenesis in fibrodysplasia ossificans progressiva. ( 28705683 )
2018
22
The obligatory role of Activin A in the formation of heterotopic bone in Fibrodysplasia Ossificans Progressiva. ( 28629737 )
2018
23
Joint-specific risk of impaired function in fibrodysplasia ossificans progressiva (FOP). ( 28627475 )
2018
24
Longitudinal patient-reported mobility assessment in fibrodysplasia ossificans progressiva (FOP). ( 28600150 )
2018
25
Fibrodysplasia ossificans progressiva: The patient voice. ( 28549688 )
2018
26
An extreme entity in differential diagnosis of musculoskeletal involvement-fibrodysplasia ossificans progressiva: a case based review. ( 30968644 )
2018
27
A Case of Fibrodysplasia Ossificans Progressiva in a 5-year-old Boy with all Musculoskeletal Features and Review of the Literature. ( 30740372 )
2018
28
Simulation-Guided Tracheotomy in a Patient With Fibrodysplasia Ossificans Progressiva. ( 30582158 )
2018
29
Therapeutic advances for blocking heterotopic ossification in fibrodysplasia ossificans progressiva. ( 30501012 )
2018
30
An mTOR Signaling Modulator Suppressed Heterotopic Ossification of Fibrodysplasia Ossificans Progressiva. ( 30392977 )
2018
31
Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP). ( 30281842 )
2018
32
Recent Topics in Fibrodysplasia Ossificans Progressiva. ( 30229572 )
2018
33
Atypical Presentation of Fibrodysplasia Ossificans Progressiva: A Case Report and Review of Literature. ( 30214843 )
2018
34
Morpholino-Mediated Exon Skipping Targeting Human ACVR1/ALK2 for Fibrodysplasia Ossificans Progressiva. ( 30171563 )
2018
35
Modeling human somite development and fibrodysplasia ossificans progressiva with induced pluripotent stem cells. ( 30139810 )
2018
36
Difficult airway management in a child with fibrodysplasia ossificans progressiva in status asthmaticus. ( 30036738 )
2018
37
Fibrodysplasia Ossificans Progressiva: A Case Report. ( 29983445 )
2018
38
Bone Resection Osteotomy in Fibrodysplasia Ossificans Progressiva. ( 29854691 )
2018
39
Severe trismus and contraindicated exodontia in a patient with fibrodysplasia ossificans progressiva: case report. ( 29730069 )
2018
40
A Bizarre Bone Scan of Fibrodysplasia Ossificans Progressiva. ( 29659394 )
2018
41
The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva. ( 29587443 )
2018
42
Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report. ( 29482508 )
2018
43
Fibrodysplasia ossificans progressiva: a current review of imaging findings. ( 29445932 )
2018
44
Activin-dependent signaling in fibro/adipogenic progenitors causes fibrodysplasia ossificans progressiva. ( 29396429 )
2018
45
Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish. ( 29307777 )
2018
46
Acute and chronic rapamycin use in patients with Fibrodysplasia Ossificans Progressiva: A report of two cases. ( 29241828 )
2018
47
Prevalence and risk factors for kidney stones in fibrodysplasia ossificans progressiva. ( 29241827 )
2018
48
Fibrodysplasia ossificans progressiva in China. ( 29175272 )
2018
49
Activin A amplifies dysregulated BMP signaling and induces chondro-osseous differentiation of primary connective tissue progenitor cells in patients with fibrodysplasia ossificans progressiva (FOP). ( 29170109 )
2018
50
Animal models of fibrodysplasia ossificans progressiva. ( 29139166 )
2018

Variations for Fibrodysplasia Ossificans Progressiva

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

76
# 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

ClinVar genetic disease variations for Fibrodysplasia Ossificans Progressiva:

6 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACVR1 NM_001105.4(ACVR1): c.-13A> G single nucleotide variant Uncertain significance rs113455580 GRCh37 Chromosome 2, 158674902: 158674902
2 ACVR1 NM_001105.4(ACVR1): c.-13A> G single nucleotide variant Uncertain significance rs113455580 GRCh38 Chromosome 2, 157818390: 157818390
3 ACVR1 NM_001105.4(ACVR1): c.99C> T (p.Tyr33=) single nucleotide variant Likely benign rs201453468 GRCh37 Chromosome 2, 158637081: 158637081
4 ACVR1 NM_001105.4(ACVR1): c.99C> T (p.Tyr33=) single nucleotide variant Likely benign rs201453468 GRCh38 Chromosome 2, 157780569: 157780569
5 ACVR1 NM_001105.4(ACVR1): c.-55C> T single nucleotide variant Uncertain significance rs375327491 GRCh37 Chromosome 2, 158674944: 158674944
6 ACVR1 NM_001105.4(ACVR1): c.-55C> T single nucleotide variant Uncertain significance rs375327491 GRCh38 Chromosome 2, 157818432: 157818432
7 ACVR1 NM_001105.4(ACVR1): c.-53C> T single nucleotide variant Benign rs73966130 GRCh37 Chromosome 2, 158674942: 158674942
8 ACVR1 NM_001105.4(ACVR1): c.-53C> T single nucleotide variant Benign rs73966130 GRCh38 Chromosome 2, 157818430: 157818430
9 ACVR1 NM_001105.4(ACVR1): c.141C> G (p.His47Gln) single nucleotide variant Likely benign rs34056189 GRCh37 Chromosome 2, 158637039: 158637039
10 ACVR1 NM_001105.4(ACVR1): c.141C> G (p.His47Gln) single nucleotide variant Likely benign rs34056189 GRCh38 Chromosome 2, 157780527: 157780527
11 ACVR1 NM_001105.4(ACVR1): c.543+2dupT duplication Uncertain significance rs886054988 GRCh37 Chromosome 2, 158634641: 158634641
12 ACVR1 NM_001105.4(ACVR1): c.543+2dupT duplication Uncertain significance rs886054988 GRCh38 Chromosome 2, 157778129: 157778129
13 ACVR1 NM_001105.4(ACVR1): c.561G> A (p.Ser187=) single nucleotide variant Uncertain significance rs377367232 GRCh37 Chromosome 2, 158630682: 158630682
14 ACVR1 NM_001105.4(ACVR1): c.561G> A (p.Ser187=) single nucleotide variant Uncertain significance rs377367232 GRCh38 Chromosome 2, 157774170: 157774170
15 ACVR1 NM_001105.4(ACVR1): c.1506C> T (p.Leu502=) single nucleotide variant Likely benign rs55788041 GRCh37 Chromosome 2, 158594067: 158594067
16 ACVR1 NM_001105.4(ACVR1): c.1506C> T (p.Leu502=) single nucleotide variant Likely benign rs55788041 GRCh38 Chromosome 2, 157737555: 157737555
17 ACVR1 NM_001105.4(ACVR1): c.*314A> C single nucleotide variant Likely benign rs140005003 GRCh37 Chromosome 2, 158593729: 158593729
18 ACVR1 NM_001105.4(ACVR1): c.*314A> C single nucleotide variant Likely benign rs140005003 GRCh38 Chromosome 2, 157737217: 157737217
19 ACVR1 NM_001105.4(ACVR1): c.*686T> C single nucleotide variant Benign rs12997 GRCh38 Chromosome 2, 157736845: 157736845
20 ACVR1 NM_001105.4(ACVR1): c.*686T> C single nucleotide variant Benign rs12997 GRCh37 Chromosome 2, 158593357: 158593357
21 ACVR1 NM_001105.4(ACVR1): c.*711A> G single nucleotide variant Likely benign rs550878134 GRCh38 Chromosome 2, 157736820: 157736820
22 ACVR1 NM_001105.4(ACVR1): c.*711A> G single nucleotide variant Likely benign rs550878134 GRCh37 Chromosome 2, 158593332: 158593332
23 ACVR1 NM_001105.4(ACVR1): c.*1036delT deletion Uncertain significance rs886054984 GRCh37 Chromosome 2, 158593007: 158593007
24 ACVR1 NM_001105.4(ACVR1): c.*1036delT deletion Uncertain significance rs886054984 GRCh38 Chromosome 2, 157736495: 157736495
25 ACVR1 NM_001105.4(ACVR1): c.-196A> G single nucleotide variant Likely benign rs374473767 GRCh37 Chromosome 2, 158731389: 158731389
26 ACVR1 NM_001105.4(ACVR1): c.-196A> G single nucleotide variant Likely benign rs374473767 GRCh38 Chromosome 2, 157874877: 157874877
27 ACVR1 NM_001105.4(ACVR1): c.820C> T (p.His274Tyr) single nucleotide variant Uncertain significance rs375487177 GRCh37 Chromosome 2, 158622679: 158622679
28 ACVR1 NM_001105.4(ACVR1): c.820C> T (p.His274Tyr) single nucleotide variant Uncertain significance rs375487177 GRCh38 Chromosome 2, 157766167: 157766167
29 ACVR1 NM_001105.4(ACVR1): c.*47C> T single nucleotide variant Likely benign rs55667327 GRCh37 Chromosome 2, 158593996: 158593996
30 ACVR1 NM_001105.4(ACVR1): c.*47C> T single nucleotide variant Likely benign rs55667327 GRCh38 Chromosome 2, 157737484: 157737484
31 ACVR1 NM_001105.4(ACVR1): c.*210A> C single nucleotide variant Uncertain significance rs886054987 GRCh37 Chromosome 2, 158593833: 158593833
32 ACVR1 NM_001105.4(ACVR1): c.*210A> C single nucleotide variant Uncertain significance rs886054987 GRCh38 Chromosome 2, 157737321: 157737321
33 ACVR1 NM_001105.4(ACVR1): c.*500G> A single nucleotide variant Uncertain significance rs886054985 GRCh38 Chromosome 2, 157737031: 157737031
34 ACVR1 NM_001105.4(ACVR1): c.*500G> A single nucleotide variant Uncertain significance rs886054985 GRCh37 Chromosome 2, 158593543: 158593543
35 ACVR1 NM_001105.4(ACVR1): c.450A> G (p.Lys150=) single nucleotide variant Uncertain significance rs774878576 GRCh37 Chromosome 2, 158634736: 158634736
36 ACVR1 NM_001105.4(ACVR1): c.450A> G (p.Lys150=) single nucleotide variant Uncertain significance rs774878576 GRCh38 Chromosome 2, 157778224: 157778224
37 ACVR1 NM_001105.4(ACVR1): c.644-3T> C single nucleotide variant Uncertain significance rs745601993 GRCh37 Chromosome 2, 158627029: 158627029
38 ACVR1 NM_001105.4(ACVR1): c.644-3T> C single nucleotide variant Uncertain significance rs745601993 GRCh38 Chromosome 2, 157770517: 157770517
39 ACVR1 NM_001105.4(ACVR1): c.*45G> T single nucleotide variant Benign rs12936 GRCh37 Chromosome 2, 158593998: 158593998
40 ACVR1 NM_001105.4(ACVR1): c.*45G> T single nucleotide variant Benign rs12936 GRCh38 Chromosome 2, 157737486: 157737486
41 ACVR1 NM_001105.4(ACVR1): c.*138G> A single nucleotide variant Benign rs2228948 GRCh37 Chromosome 2, 158593905: 158593905
42 ACVR1 NM_001105.4(ACVR1): c.*138G> A single nucleotide variant Benign rs2228948 GRCh38 Chromosome 2, 157737393: 157737393
43 ACVR1 NM_001105.4(ACVR1): c.*152G> A single nucleotide variant Likely benign rs373670847 GRCh37 Chromosome 2, 158593891: 158593891
44 ACVR1 NM_001105.4(ACVR1): c.*152G> A single nucleotide variant Likely benign rs373670847 GRCh38 Chromosome 2, 157737379: 157737379
45 ACVR1 NM_001105.4(ACVR1): c.*183G> A single nucleotide variant Likely benign rs113598201 GRCh37 Chromosome 2, 158593860: 158593860
46 ACVR1 NM_001105.4(ACVR1): c.*183G> A single nucleotide variant Likely benign rs113598201 GRCh38 Chromosome 2, 157737348: 157737348
47 ACVR1 NM_001105.4(ACVR1): c.*762A> G single nucleotide variant Likely benign rs112908089 GRCh38 Chromosome 2, 157736769: 157736769
48 ACVR1 NM_001105.4(ACVR1): c.*791A> T single nucleotide variant Benign rs74392193 GRCh37 Chromosome 2, 158593252: 158593252
49 ACVR1 NM_001105.4(ACVR1): c.*791A> T single nucleotide variant Benign rs74392193 GRCh38 Chromosome 2, 157736740: 157736740
50 ACVR1 NM_001105.4(ACVR1): c.*762A> G single nucleotide variant Likely benign rs112908089 GRCh37 Chromosome 2, 158593281: 158593281

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:

38
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

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

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 ACVR1 BMP1 BMP2 BMP4 BMPR1A FOS
2
Show member pathways
13.2 ACVR1 BMP1 BMP2 BMP4 BMPR1A FOS
3
Show member pathways
13.1 ACVR1 BMP1 BMP2 BMP4 BMPR1A FOS
4
Show member pathways
12.82 BMP1 BMP2 BMP4 FOS
5
Show member pathways
12.8 BMP1 BMP2 BMP4 FOS
6
Show member pathways
12.35 ACVR1 BMP4 BMPR1A NOG
7
Show member pathways
12.19 BMP1 BMP2 BMP4 FOS
8
Show member pathways
12.18 ACVR1 BMP2 BMP4 BMPR1A FOS
9
Show member pathways
12.1 ACVR1 BMP2 BMP4 BMPR1A NOG
10 12.04 ACVR1 BMP4 ID3
11 11.98 BMP2 BMP4 BMPR1A SMAD7
12 11.92 ACVR1 BMP4 BMPR1A FOS
13 11.91 BMP1 BMP2 BMP4 FOS
14 11.9 ACVR1 BMP4 BMPR1A ID3
15 11.88 BMP4 BMPR1A NOG
16 11.85 BMP1 BMP2 BMP4 ID3
17
Show member pathways
11.81 BMP1 BMP2 BMP4 FOS SMAD7
18 11.54 BMP1 BMP2 BMP4 FOS
19 11.45 BMP1 BMP4 NOG
20 11.38 BMP2 BMP4 BMPR1A
21 11.32 BMP4 NOG
22
Show member pathways
11.31 BMP2 BMPR1A NOG SMAD7
23 11.14 ACVR1 BMP2 BMP4 BMPR1A ID3 NOG
24
Show member pathways
11.05 ACVR1 SMAD7
25 11.02 BMP1 BMP2 BMP4
26 11.02 BMP4 FOS NOG SMAD7
27 11.01 BMP2 BMP4
28 10.89 BMP2 BMP4 BMPR1A
29 10.8 BMP1 BMP2 BMP4 FOS

GO Terms for Fibrodysplasia Ossificans Progressiva

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

(show top 50) (show all 80)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.98 BMP2 BMP4 ID3 NOG
2 in utero embryonic development GO:0001701 9.96 ACVR1 BMP2 BMPR1A NOG
3 heart development GO:0007507 9.96 ACVR1 BMP2 BMP4 BMPR1A ID3
4 regulation of apoptotic process GO:0042981 9.92 BMP2 BMP4 MSX2
5 positive regulation of cell migration GO:0030335 9.92 ACVR1 BMP2 BMP4
6 skeletal system development GO:0001501 9.92 BMP1 BMP2 BMP4 NOG
7 osteoblast differentiation GO:0001649 9.9 BMP2 BMP4 MSX2 NOG
8 transforming growth factor beta receptor signaling pathway GO:0007179 9.89 ACVR1 BMPR1A FOS SMAD7
9 ossification GO:0001503 9.88 BMP1 BMP2 BMP4 MSX2
10 pattern specification process GO:0007389 9.86 ACVR1 BMPR1A NOG
11 positive regulation of epithelial cell proliferation GO:0050679 9.85 BMP4 BMPR1A NOG
12 cellular response to growth factor stimulus GO:0071363 9.85 BMP2 BMP4 MSX2
13 SMAD protein signal transduction GO:0060395 9.84 BMP2 BMP4 FOS
14 odontogenesis of dentin-containing tooth GO:0042475 9.84 BMP2 BMP4 BMPR1A
15 embryonic digit morphogenesis GO:0042733 9.84 BMP4 BMPR1A MSX2 NOG
16 outflow tract morphogenesis GO:0003151 9.83 BMP4 BMPR1A MSX2 NOG
17 ureteric bud development GO:0001657 9.82 BMP4 NOG SMAD7
18 chondrocyte differentiation GO:0002062 9.82 BMP2 BMP4 BMPR1A
19 ventricular septum morphogenesis GO:0060412 9.81 ACVR1 NOG SMAD7
20 odontogenesis GO:0042476 9.81 BMP4 ID3 MSX2
21 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.8 ACVR1 BMP2 BMP4 BMPR1A
22 endoderm development GO:0007492 9.79 BMP4 BMPR1A NOG
23 pituitary gland development GO:0021983 9.78 BMP4 BMPR1A NOG
24 positive regulation of bone mineralization GO:0030501 9.78 ACVR1 BMP2 BMP4 BMPR1A
25 negative regulation of BMP signaling pathway GO:0030514 9.76 NOG SMAD7
26 negative regulation of osteoblast differentiation GO:0045668 9.76 ID3 NOG
27 mesoderm formation GO:0001707 9.76 ACVR1 BMP4 BMPR1A NOG
28 positive regulation of cell differentiation GO:0045597 9.75 BMP2 BMP4
29 negative regulation of cell cycle GO:0045786 9.75 BMP2 BMP4
30 positive regulation of epithelial to mesenchymal transition GO:0010718 9.75 BMP2 BMP4
31 branching involved in ureteric bud morphogenesis GO:0001658 9.75 BMP2 BMP4
32 dorsal/ventral pattern formation GO:0009953 9.75 BMPR1A NOG
33 embryonic skeletal system development GO:0048706 9.75 BMP4 NOG
34 epithelial to mesenchymal transition GO:0001837 9.74 BMP2 NOG
35 germ cell development GO:0007281 9.74 ACVR1 BMP4
36 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.74 ACVR1 BMP4
37 metanephros development GO:0001656 9.74 BMP4 ID3
38 positive regulation of BMP signaling pathway GO:0030513 9.74 BMP4 MSX2
39 telencephalon development GO:0021537 9.74 BMP2 BMP4
40 positive regulation of cartilage development GO:0061036 9.74 BMP1 BMP2 BMP4
41 embryonic hindlimb morphogenesis GO:0035116 9.73 BMP4 MSX2
42 cardiac muscle cell differentiation GO:0055007 9.73 BMP2 BMP4
43 negative regulation of myoblast differentiation GO:0045662 9.73 BMP4 ID3
44 anatomical structure formation involved in morphogenesis GO:0048646 9.73 BMP4 NOG
45 lung morphogenesis GO:0060425 9.73 BMP4 NOG
46 outflow tract septum morphogenesis GO:0003148 9.73 ACVR1 BMP4 BMPR1A MSX2
47 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.72 ACVR1 BMPR1A
48 embryonic morphogenesis GO:0048598 9.72 BMP4 BMPR1A
49 cardiac right ventricle morphogenesis GO:0003215 9.72 BMP4 BMPR1A
50 positive regulation of ossification GO:0045778 9.72 BMP2 BMP4

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.95 BMPR1A FOS ID3 MSX2 SMAD7
2 transcription regulatory region DNA binding GO:0044212 9.69 FOS MSX2 SMAD7
3 cytokine activity GO:0005125 9.67 BMP1 BMP2 BMP4
4 growth factor activity GO:0008083 9.63 BMP1 BMP2 BMP4
5 growth factor binding GO:0019838 9.54 ACVR1 BMPR1A
6 transforming growth factor beta receptor binding GO:0005160 9.52 BMP2 BMP4
7 transforming growth factor beta-activated receptor activity GO:0005024 9.43 ACVR1 BMPR1A
8 activin binding GO:0048185 9.4 ACVR1 SMAD7
9 co-receptor binding GO:0039706 9.37 BMP2 BMP4
10 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.32 ACVR1 BMPR1A
11 BMP receptor binding GO:0070700 9.26 BMP2 BMP4
12 BMP receptor activity GO:0098821 9.16 ACVR1 BMPR1A
13 transforming growth factor beta receptor activity, type I GO:0005025 8.96 ACVR1 BMPR1A
14 SMAD binding GO:0046332 8.8 ACVR1 BMP2 BMPR1A
15 protein binding GO:0005515 10.18 ACVR1 BMP1 BMP2 BMP4 BMPR1A FOS

Sources for Fibrodysplasia Ossificans Progressiva

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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