MCID: FBR011
MIFTS: 63

Fibrodysplasia Ossificans Progressiva

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

Aliases & Classifications for Fibrodysplasia Ossificans Progressiva

MalaCards integrated aliases for Fibrodysplasia Ossificans Progressiva:

Name: Fibrodysplasia Ossificans Progressiva 57 12 76 53 25 59 75 37 13 55 15 40 73
Myositis Ossificans Progressiva 12 76 53 25 59
Progressive Myositis Ossificans 12 53 25 29 6
Myositis Ossificans 25 75 44 73
Fop 57 53 59 75
Progressive Ossifying Myositis 12 53 25
Stone Man Syndrome 12 59
Myositis Ossificans Progressive 75
Man of Stone 75

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
fibrodysplasia ossificans progressiva:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fibrodysplasia Ossificans Progressiva

NIH Rare Diseases : 53 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 synovial chondromatosis. 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 Akt Signaling. The drugs Tretinoin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and pons, and related phenotypes are intellectual disability and seizures

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)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.

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.

Wikipedia : 76 Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease. The disease... more...

Related Diseases for Fibrodysplasia Ossificans Progressiva

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



Diseases related to Fibrodysplasia Ossificans Progressiva

Symptoms & Phenotypes for Fibrodysplasia Ossificans Progressiva

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Fibrodysplasia Ossificans Progressiva:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 very rare (1%) Occasional (29-5%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
4 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
5 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
6 synostosis of joints 59 32 occasional (7.5%) Occasional (29-5%) HP:0100240
7 abnormal vertebral morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003468
8 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
9 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
10 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
11 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
12 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
13 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
14 hallux valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001822
15 spinal rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003306
16 abnormality of the first metatarsal bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0010054
17 aplasia/hypoplasia of the phalanges of the hallux 59 32 frequent (33%) Frequent (79-30%) HP:0010058
18 short hallux 59 32 hallmark (90%) Very frequent (99-80%) HP:0010109
19 ectopic ossification in muscle tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0011987
20 ectopic ossification in ligament tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0011989
21 scoliosis 32 HP:0002650
22 widely spaced teeth 32 HP:0000687
23 sensorineural hearing impairment 32 HP:0000407
24 respiratory failure 32 HP:0002878
25 conductive hearing impairment 32 HP:0000405
26 short 1st metacarpal 32 HP:0010034
27 broad femoral neck 32 HP:0006429
28 metaphyseal widening 32 HP:0003016
29 small cervical vertebral bodies 32 HP:0004629
30 progressive cervical vertebral spine fusion 32 HP:0008449
31 ectopic ossification in tendon tissue 32 HP:0011988

MGI Mouse Phenotypes related to Fibrodysplasia Ossificans Progressiva:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.21 FOS MSX2 ID3 BMP4 ACVR1 BMP1
2 cardiovascular system MP:0005385 10.19 ID3 MSX2 BMPR1A BMP4 ACVR1 BMP1
3 growth/size/body region MP:0005378 10.19 FOS MSX2 ID3 BMP4 ACVR1 BMP1
4 craniofacial MP:0005382 10.18 FOS MSX2 BMP4 ACVR1 BMP1 BMPR1A
5 cellular MP:0005384 10.13 BMPR1A ID3 FOS ACVR1 BMP4 SMAD7
6 digestive/alimentary MP:0005381 10.11 MSX2 ID3 BMP4 ACVR1 BMP1 NOG
7 homeostasis/metabolism MP:0005376 10.1 BMPR1A ID3 FOS BMP1 ACVR1 BMP4
8 endocrine/exocrine gland MP:0005379 10.09 ID3 FOS MSX2 BMPR1A BMP4 NOG
9 mortality/aging MP:0010768 10.06 ID3 FOS MSX2 BMPR1A BMP4 ACVR1
10 hematopoietic system MP:0005397 10.05 BMPR1A ID3 FOS MSX2 BMP1 BMP4
11 immune system MP:0005387 10.02 BMPR1A ID3 FOS MSX2 BMP1 ACVR1
12 hearing/vestibular/ear MP:0005377 10 FOS MSX2 BMPR1A BMP4 ACVR1 NOG
13 limbs/digits/tail MP:0005371 9.98 FOS MSX2 BMP4 ACVR1 BMP1 BMPR1A
14 integument MP:0010771 9.93 BMPR1A FOS MSX2 BMP4 NOG SMAD7
15 muscle MP:0005369 9.91 MSX2 BMP4 ACVR1 BMP1 BMPR1A NOG
16 nervous system MP:0003631 9.87 BMPR1A ID3 FOS ACVR1 BMP4 NOG
17 normal MP:0002873 9.8 ID3 FOS MSX2 BMPR1A BMP4 NOG
18 reproductive system MP:0005389 9.63 BMPR1A ID3 FOS BMP4 SMAD7 NOG
19 skeleton MP:0005390 9.56 FOS MSX2 ID3 BMP4 ACVR1 BMP1
20 vision/eye MP:0005391 9.1 ID3 FOS MSX2 BMPR1A BMP4 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 5538 444795
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 Recruiting NCT03312634 Phase 3 Palovarotene
2 An Efficacy and Safety Study of Palovarotene to Treat Preosseous Flare-ups in FOP Subjects Completed NCT02190747 Phase 2 Palovarotene;Placebo
3 A Study to Examine the Safety, Tolerability and Effects on Abnormal Bone Formation of REGN2477 in Patients With Fibrodysplasia Ossificans Progressiva 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 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
6 In-Home Evaluation of Episodic Administration of Palovarotene in Fibrodysplasia Ossificans Progressiva (FOP) Subjects Suspended NCT02521792 Phase 2 Palovarotene
7 Urine Sample Collection From FOP Patients Completed NCT02066324
8 The Fibrodysplasia Ossificans Progressiva (FOP) Connection Registry Recruiting NCT02745158
9 A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP) Active, not recruiting NCT02322255
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 29 ACVR1

Anatomical Context for Fibrodysplasia Ossificans Progressiva

MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

41
Bone, Skeletal Muscle, Pons, Skin, Kidney, Endothelial, Monocytes

Publications for Fibrodysplasia Ossificans Progressiva

Articles related to Fibrodysplasia Ossificans Progressiva:

(show top 50) (show all 397)
# Title Authors Year
1
Fibrodysplasia ossificans progressiva: a current review of imaging findings. ( 29445932 )
2018
2
The Horizon of a Therapy for Rare Genetic Diseases: A &amp;quot;Druggable&amp;quot; Future for Fibrodysplasia Ossificans Progressiva. ( 29587443 )
2018
3
Animal models of fibrodysplasia ossificans progressiva. ( 29139166 )
2018
4
Bone Resection Osteotomy in Fibrodysplasia Ossificans Progressiva. ( 29854691 )
2018
5
Activin-dependent signaling in fibro/adipogenic progenitors causes fibrodysplasia ossificans progressiva. ( 29396429 )
2018
6
Severe trismus and contraindicated exodontia in a patient with fibrodysplasia ossificans progressiva: case report. ( 29730069 )
2018
7
A Bizarre Bone Scan of Fibrodysplasia Ossificans Progressiva. ( 29659394 )
2018
8
Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report. ( 29482508 )
2018
9
Depletion of Mast Cells and Macrophages Impairs Heterotopic Ossification in an Acvr1<sup>R206H</sup>Mouse Model of Fibrodysplasia Ossificans Progressiva. ( 28986986 )
2018
10
Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish. ( 29307777 )
2018
11
Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva. ( 29134511 )
2017
12
Cartilage-derived retinoic acid-sensitive protein (CD-RAP): A stage-specific biomarker of heterotopic endochondral ossification (HEO) in fibrodysplasia ossificans progressiva (FOP). ( 28963080 )
2017
13
Hard targets for a second skeleton: therapeutic horizons for fibrodysplasia ossificans progressiva (FOP). ( 29177121 )
2017
14
A cumulative analogue joint involvement scale (CAJIS) for fibrodysplasia ossificans progressiva (FOP). ( 28465250 )
2017
15
The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response. ( 27713089 )
2017
16
Longitudinal study of the activities of daily living and quality of life in Japanese patients with fibrodysplasia ossificans progressiva. ( 29145736 )
2017
17
The Expansion of Heterotopic Bone in Fibrodysplasia Ossificans Progressiva Is Activin A-Dependent. ( 28782882 )
2017
18
The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva. ( 28866367 )
2017
19
Longitudinal patient-reported mobility assessment in fibrodysplasia ossificans progressiva (FOP). ( 28600150 )
2017
20
Activin-A enhances mTOR signaling to promote aberrant chondrogenesis in fibrodysplasia ossificans progressiva. ( 28758906 )
2017
21
Peripheral Blood Mononuclear Cell Immunophenotyping in Fibrodysplasia Ossificans Progressiva Patients: Evidence for Monocyte DNAM1 Up-regulation. ( 28985649 )
2017
22
The obligatory role of Activin A in the formation of heterotopic bone in Fibrodysplasia Ossificans Progressiva. ( 28629737 )
2017
23
Trace element and cytokine concentrations in patients with Fibrodysplasia Ossificans Progressiva (FOP): A case control study. ( 27908413 )
2017
24
Acute unilateral hip pain in fibrodysplasia ossificans progressiva (FOP). ( 28822791 )
2017
25
Heterotopic bone induction via BMP signaling: Potential therapeutic targets for fibrodysplasia ossificans progressiva. ( 28754575 )
2017
26
Application of human induced pluripotent stem cells to model fibrodysplasia ossificans progressiva. ( 28716551 )
2017
27
A Zebrafish Model of Human Fibrodysplasia Ossificans Progressiva. ( 28394244 )
2017
28
Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva. ( 29100956 )
2017
29
Restricted Mandibular Movement Attributed to Ossification of Mandibular Depressors and Medial Pterygoid Muscles in Patients With Fibrodysplasia Ossificans Progressiva: A Report of 3 Cases. ( 28390760 )
2017
30
Atypical presentation and management of fibrodysplasia ossificans progressiva. ( 28751434 )
2017
31
Fibrodysplasia ossificans progressiva in China. ( 29175272 )
2017
32
Fibrodysplasia ossificans progressiva: Basic understanding and experimental models. ( 29259851 )
2017
33
Joint-specific risk of impaired function in fibrodysplasia ossificans progressiva (FOP). ( 28627475 )
2017
34
Clinical staging of Fibrodysplasia Ossificans Progressiva (FOP). ( 28943457 )
2017
35
The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A close call. ( 28473268 )
2017
36
Unresolving trismus following third molar surgery: Report of a case of fibrodysplasia ossificans progressiva with review of literature. ( 28797219 )
2017
37
Clinical-pathological correlations in three patients with fibrodysplasia ossificans progressiva. ( 29033382 )
2017
38
[18F]NaF PET/CT scan as an early marker of heterotopic ossification in fibrodysplasia ossificans progressiva. ( 28826841 )
2017
39
Acute and chronic rapamycin use in patients with Fibrodysplasia Ossificans Progressiva: A report of two cases. ( 29241828 )
2017
40
Fibrodysplasia ossificans progressiva: The patient voice. ( 28549688 )
2017
41
Prevalence and risk factors for kidney stones in fibrodysplasia ossificans progressiva. ( 29241827 )
2017
42
Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases. ( 28666455 )
2017
43
Mast cell inhibition as a therapeutic approach in fibrodysplasia ossificans progressiva (FOP). ( 28851540 )
2017
44
Imaging assessment of fibrodysplasia ossificans progressiva: Qualitative, quantitative and questionable. ( 28822792 )
2017
45
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 )
2017
46
Periodontal ligament fibroblasts as a cell model to study osteogenesis and osteoclastogenesis in fibrodysplasia ossificans progressiva. ( 28705683 )
2017
47
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva. ( 27565519 )
2016
48
The Diversity of the Clinical Phenotypes in Patients With Fibrodysplasia Ossificans Progressiva. ( 26858800 )
2016
49
The Natural History of Flare-Ups in Fibrodysplasia Ossificans Progressiva (FOP): A Comprehensive Global Assessment. ( 27025942 )
2016
50
Generation of integration free induced pluripotent stem cells from fibrodysplasia ossificans progressiva (FOP) patients from urine samples. ( 27345784 )
2016

Variations for Fibrodysplasia Ossificans Progressiva

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

75
# 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.617G> A (p.Arg206His) single nucleotide variant Pathogenic rs121912678 GRCh37 Chromosome 2, 158630626: 158630626
2 ACVR1 NM_001105.4(ACVR1): c.617G> A (p.Arg206His) single nucleotide variant Pathogenic rs121912678 GRCh38 Chromosome 2, 157774114: 157774114
3 ACVR1 NM_001105.4(ACVR1): c.1067G> A (p.Gly356Asp) single nucleotide variant Pathogenic rs121912679 GRCh37 Chromosome 2, 158617589: 158617589
4 ACVR1 NM_001105.4(ACVR1): c.1067G> A (p.Gly356Asp) single nucleotide variant Pathogenic rs121912679 GRCh38 Chromosome 2, 157761077: 157761077
5 ACVR1 NM_001105.4(ACVR1): c.774G> C (p.Arg258Ser) single nucleotide variant Pathogenic rs121912680 GRCh37 Chromosome 2, 158626896: 158626896
6 ACVR1 NM_001105.4(ACVR1): c.774G> C (p.Arg258Ser) single nucleotide variant Pathogenic rs121912680 GRCh38 Chromosome 2, 157770384: 157770384
7 ACVR1 NM_001105.4(ACVR1): c.982G> A (p.Gly328Arg) single nucleotide variant Pathogenic rs387906588 GRCh37 Chromosome 2, 158622517: 158622517
8 ACVR1 NM_001105.4(ACVR1): c.982G> A (p.Gly328Arg) single nucleotide variant Pathogenic rs387906588 GRCh38 Chromosome 2, 157766005: 157766005
9 ACVR1 NM_001105.4(ACVR1): c.982G> T (p.Gly328Trp) single nucleotide variant Pathogenic rs387906588 GRCh37 Chromosome 2, 158622517: 158622517
10 ACVR1 NM_001105.4(ACVR1): c.982G> T (p.Gly328Trp) single nucleotide variant Pathogenic rs387906588 GRCh38 Chromosome 2, 157766005: 157766005
11 ACVR1 NM_001105.4(ACVR1): c.983G> A (p.Gly328Glu) single nucleotide variant Pathogenic rs387906589 GRCh37 Chromosome 2, 158622516: 158622516
12 ACVR1 NM_001105.4(ACVR1): c.983G> A (p.Gly328Glu) single nucleotide variant Pathogenic rs387906589 GRCh38 Chromosome 2, 157766004: 157766004
13 ACVR1 NM_001105.4(ACVR1): c.1124G> C (p.Arg375Pro) single nucleotide variant Pathogenic rs387906590 GRCh37 Chromosome 2, 158617532: 158617532
14 ACVR1 NM_001105.4(ACVR1): c.1124G> C (p.Arg375Pro) single nucleotide variant Pathogenic rs387906590 GRCh38 Chromosome 2, 157761020: 157761020
15 ACVR1 NM_001105.4(ACVR1): c.605G> T (p.Arg202Ile) single nucleotide variant Pathogenic rs387906591 GRCh37 Chromosome 2, 158630638: 158630638
16 ACVR1 NM_001105.4(ACVR1): c.605G> T (p.Arg202Ile) single nucleotide variant Pathogenic rs387906591 GRCh38 Chromosome 2, 157774126: 157774126
17 ACVR1 NM_001105.4(ACVR1): c.587T> C (p.Leu196Pro) single nucleotide variant Pathogenic rs797045135 GRCh37 Chromosome 2, 158630656: 158630656
18 ACVR1 NM_001105.4(ACVR1): c.587T> C (p.Leu196Pro) single nucleotide variant Pathogenic rs797045135 GRCh38 Chromosome 2, 157774144: 157774144
19 ACVR1 NM_001105.4(ACVR1): c.772A> G (p.Arg258Gly) single nucleotide variant Likely pathogenic rs863224846 GRCh37 Chromosome 2, 158626898: 158626898
20 ACVR1 NM_001105.4(ACVR1): c.772A> G (p.Arg258Gly) single nucleotide variant Likely pathogenic rs863224846 GRCh38 Chromosome 2, 157770386: 157770386
21 ACVR1 NM_001105.4(ACVR1): c.690G> A (p.Glu230=) single nucleotide variant Benign rs1146031 GRCh38 Chromosome 2, 157770468: 157770468
22 ACVR1 NM_001105.4(ACVR1): c.690G> A (p.Glu230=) single nucleotide variant Benign rs1146031 GRCh37 Chromosome 2, 158626980: 158626980
23 ACVR1 NM_001105.4(ACVR1): c.270C> T (p.Ala90=) single nucleotide variant Benign rs2227861 GRCh38 Chromosome 2, 157780398: 157780398
24 ACVR1 NM_001105.4(ACVR1): c.270C> T (p.Ala90=) single nucleotide variant Benign rs2227861 GRCh37 Chromosome 2, 158636910: 158636910
25 ACVR1 NM_001105.4(ACVR1): c.44C> G (p.Ala15Gly) single nucleotide variant Benign/Likely benign rs13406336 GRCh38 Chromosome 2, 157799450: 157799450
26 ACVR1 NM_001105.4(ACVR1): c.44C> G (p.Ala15Gly) single nucleotide variant Benign/Likely benign rs13406336 GRCh37 Chromosome 2, 158655962: 158655962
27 ACVR1 NM_001105.4(ACVR1): c.*791A> T single nucleotide variant Benign rs74392193 GRCh37 Chromosome 2, 158593252: 158593252
28 ACVR1 NM_001105.4(ACVR1): c.*791A> T single nucleotide variant Benign rs74392193 GRCh38 Chromosome 2, 157736740: 157736740
29 ACVR1 NM_001105.4(ACVR1): c.*762A> G single nucleotide variant Likely benign rs112908089 GRCh37 Chromosome 2, 158593281: 158593281
30 ACVR1 NM_001105.4(ACVR1): c.*762A> G single nucleotide variant Likely benign rs112908089 GRCh38 Chromosome 2, 157736769: 157736769
31 ACVR1 NM_001105.4(ACVR1): c.*183G> A single nucleotide variant Likely benign rs113598201 GRCh38 Chromosome 2, 157737348: 157737348
32 ACVR1 NM_001105.4(ACVR1): c.*183G> A single nucleotide variant Likely benign rs113598201 GRCh37 Chromosome 2, 158593860: 158593860
33 ACVR1 NM_001105.4(ACVR1): c.*152G> A single nucleotide variant Likely benign rs373670847 GRCh38 Chromosome 2, 157737379: 157737379
34 ACVR1 NM_001105.4(ACVR1): c.*152G> A single nucleotide variant Likely benign rs373670847 GRCh37 Chromosome 2, 158593891: 158593891
35 ACVR1 NM_001105.4(ACVR1): c.*138G> A single nucleotide variant Benign rs2228948 GRCh38 Chromosome 2, 157737393: 157737393
36 ACVR1 NM_001105.4(ACVR1): c.*138G> A single nucleotide variant Benign rs2228948 GRCh37 Chromosome 2, 158593905: 158593905
37 ACVR1 NM_001105.4(ACVR1): c.*45G> T single nucleotide variant Benign rs12936 GRCh38 Chromosome 2, 157737486: 157737486
38 ACVR1 NM_001105.4(ACVR1): c.*45G> T single nucleotide variant Benign rs12936 GRCh37 Chromosome 2, 158593998: 158593998
39 ACVR1 NM_001105.4(ACVR1): c.644-3T> C single nucleotide variant Uncertain significance rs745601993 GRCh38 Chromosome 2, 157770517: 157770517
40 ACVR1 NM_001105.4(ACVR1): c.644-3T> C single nucleotide variant Uncertain significance rs745601993 GRCh37 Chromosome 2, 158627029: 158627029
41 ACVR1 NM_001105.4(ACVR1): c.450A> G (p.Lys150=) single nucleotide variant Uncertain significance rs774878576 GRCh38 Chromosome 2, 157778224: 157778224
42 ACVR1 NM_001105.4(ACVR1): c.450A> G (p.Lys150=) single nucleotide variant Uncertain significance rs774878576 GRCh37 Chromosome 2, 158634736: 158634736
43 ACVR1 NM_001105.4(ACVR1): c.*500G> A single nucleotide variant Uncertain significance rs886054985 GRCh37 Chromosome 2, 158593543: 158593543
44 ACVR1 NM_001105.4(ACVR1): c.*500G> A single nucleotide variant Uncertain significance rs886054985 GRCh38 Chromosome 2, 157737031: 157737031
45 ACVR1 NM_001105.4(ACVR1): c.*210A> C single nucleotide variant Uncertain significance rs886054987 GRCh38 Chromosome 2, 157737321: 157737321
46 ACVR1 NM_001105.4(ACVR1): c.*210A> C single nucleotide variant Uncertain significance rs886054987 GRCh37 Chromosome 2, 158593833: 158593833
47 ACVR1 NM_001105.4(ACVR1): c.*47C> T single nucleotide variant Likely benign rs55667327 GRCh38 Chromosome 2, 157737484: 157737484
48 ACVR1 NM_001105.4(ACVR1): c.*47C> T single nucleotide variant Likely benign rs55667327 GRCh37 Chromosome 2, 158593996: 158593996
49 ACVR1 NM_001105.4(ACVR1): c.820C> T (p.His274Tyr) single nucleotide variant Uncertain significance rs375487177 GRCh38 Chromosome 2, 157766167: 157766167
50 ACVR1 NM_001105.4(ACVR1): c.820C> T (p.His274Tyr) single nucleotide variant Uncertain significance rs375487177 GRCh37 Chromosome 2, 158622679: 158622679

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:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 ACVR1 BMP1 BMP4 BMPR1A FOS
2
Show member pathways
13 ACVR1 BMP1 BMP4 BMPR1A FOS
3
Show member pathways
12.24 ACVR1 BMP4 BMPR1A NOG
4
Show member pathways
12.19 ACVR1 BMP4 BMPR1A FOS
5
Show member pathways
12.11 ACVR1 BMP4 BMPR1A NOG
6 12 ACVR1 BMP4 ID3
7 11.89 BMP4 BMPR1A SMAD7
8 11.82 BMP1 BMP4 FOS
9 11.81 BMP4 BMPR1A NOG
10 11.79 BMP1 BMP4 ID3
11
Show member pathways
11.79 BMP1 BMP4 FOS SMAD7
12 11.7 ACVR1 BMP4 BMPR1A FOS
13 11.6 ACVR1 BMP4 BMPR1A ID3
14
Show member pathways
11.44 BMPR1A NOG SMAD7
15 11.28 BMP4 NOG
16 11.25 BMP4 BMPR1A
17 11.22 BMP1 BMP4 NOG
18 11.02 BMP4 FOS NOG SMAD7
19 11.02 ACVR1 BMP4 BMPR1A ID3 NOG SMAD7
20
Show member pathways
11.01 ACVR1 SMAD7
21 10.89 BMP4 BMPR1A

GO Terms for Fibrodysplasia Ossificans Progressiva

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

(show top 50) (show all 63)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.91 ACVR1 BMP4 BMPR1A ID3
2 negative regulation of gene expression GO:0010629 9.88 BMP4 ID3 NOG
3 in utero embryonic development GO:0001701 9.87 ACVR1 BMPR1A NOG
4 skeletal system development GO:0001501 9.86 BMP1 BMP4 NOG
5 osteoblast differentiation GO:0001649 9.82 BMP4 MSX2 NOG
6 ossification GO:0001503 9.81 BMP1 BMP4 MSX2
7 transforming growth factor beta receptor signaling pathway GO:0007179 9.81 ACVR1 BMPR1A FOS SMAD7
8 positive regulation of epithelial cell proliferation GO:0050679 9.79 BMP4 BMPR1A NOG
9 embryonic digit morphogenesis GO:0042733 9.78 BMP4 BMPR1A MSX2 NOG
10 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.77 ACVR1 BMP4 BMPR1A
11 ureteric bud development GO:0001657 9.76 BMP4 NOG SMAD7
12 positive regulation of osteoblast differentiation GO:0045669 9.76 ACVR1 BMP4 BMPR1A MSX2
13 positive regulation of bone mineralization GO:0030501 9.75 ACVR1 BMP4 BMPR1A
14 odontogenesis GO:0042476 9.74 BMP4 ID3 MSX2
15 SMAD protein signal transduction GO:0060395 9.73 BMP4 FOS
16 odontogenesis of dentin-containing tooth GO:0042475 9.73 BMP4 BMPR1A
17 embryonic limb morphogenesis GO:0030326 9.73 BMP4 MSX2
18 pattern specification process GO:0007389 9.73 BMPR1A NOG
19 cellular response to growth factor stimulus GO:0071363 9.73 BMP4 MSX2
20 ventricular septum morphogenesis GO:0060412 9.73 ACVR1 NOG SMAD7
21 outflow tract morphogenesis GO:0003151 9.73 BMP4 BMPR1A MSX2 NOG
22 negative regulation of BMP signaling pathway GO:0030514 9.72 NOG SMAD7
23 negative regulation of osteoblast differentiation GO:0045668 9.72 ID3 NOG
24 dorsal/ventral pattern formation GO:0009953 9.72 BMPR1A NOG
25 chondrocyte differentiation GO:0002062 9.72 BMP4 BMPR1A
26 embryonic skeletal system development GO:0048706 9.72 BMP4 NOG
27 endoderm development GO:0007492 9.72 BMP4 BMPR1A NOG
28 germ cell development GO:0007281 9.71 ACVR1 BMP4
29 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.71 ACVR1 BMP4
30 metanephros development GO:0001656 9.71 BMP4 ID3
31 positive regulation of BMP signaling pathway GO:0030513 9.71 BMP4 MSX2
32 pituitary gland development GO:0021983 9.71 BMP4 BMPR1A NOG
33 embryonic hindlimb morphogenesis GO:0035116 9.7 BMP4 MSX2
34 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.7 BMP4 BMPR1A FOS
35 anatomical structure formation involved in morphogenesis GO:0048646 9.69 BMP4 NOG
36 negative regulation of myoblast differentiation GO:0045662 9.69 BMP4 ID3
37 lung morphogenesis GO:0060425 9.69 BMP4 NOG
38 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.68 ACVR1 BMPR1A
39 embryonic morphogenesis GO:0048598 9.68 BMP4 BMPR1A
40 positive regulation of cartilage development GO:0061036 9.68 BMP1 BMP4
41 smooth muscle cell differentiation GO:0051145 9.67 ACVR1 BMP4
42 cardiac right ventricle morphogenesis GO:0003215 9.67 BMP4 BMPR1A
43 pathway-restricted SMAD protein phosphorylation GO:0060389 9.67 ACVR1 SMAD7
44 endocardial cushion morphogenesis GO:0003203 9.67 ACVR1 BMPR1A NOG
45 cellular response to BMP stimulus GO:0071773 9.67 ACVR1 BMP4 BMPR1A NOG
46 positive regulation of SMAD protein signal transduction GO:0060391 9.66 BMP4 BMPR1A
47 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.66 BMP4 MSX2
48 embryonic skeletal joint morphogenesis GO:0060272 9.65 BMP4 NOG
49 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.65 NOG SMAD7
50 membranous septum morphogenesis GO:0003149 9.64 BMP4 NOG

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.72 BMPR1A FOS ID3 MSX2 SMAD7
2 transcription factor binding GO:0008134 9.58 FOS ID3 MSX2
3 transcription regulatory region DNA binding GO:0044212 9.43 FOS MSX2 SMAD7
4 SMAD binding GO:0046332 9.37 ACVR1 BMPR1A
5 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.16 ACVR1 BMPR1A
6 activin binding GO:0048185 8.96 ACVR1 SMAD7
7 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.62 ACVR1 BMPR1A

Sources for Fibrodysplasia Ossificans Progressiva

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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