MCID: FBR011
MIFTS: 61

Fibrodysplasia Ossificans Progressiva malady

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

Aliases & Classifications for Fibrodysplasia Ossificans Progressiva

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 66UMLS, 37MeSH, 25GTR, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Fibrodysplasia Ossificans Progressiva:

Name: Fibrodysplasia Ossificans Progressiva 50 11 46 23 24 13 52 68 12 48 66
Myositis Ossificans 46 24 68 37 66
Myositis Ossificans Progressiva 11 46 24 52
Progressive Myositis Ossificans 11 46 24
Progressive Ossifying Myositis 11 46 24
 
Fop 46 52 68
Myositis Ossificans Progressive 68 25
Stone Man Syndrome 11 52
Man of Stone 68

Characteristics:

Orphanet epidemiological data:

52
fibrodysplasia ossificans progressiva:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Spain),<1/1000000 (Europe); Age of onset: Childhood; Age of death: any age

HPO:

62
fibrodysplasia ossificans progressiva:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 135100
Disease Ontology11 DOID:13374
ICD1028 M61.1, M61.10
ICD9CM30 728.11
MeSH37 D009221
NCIt43 C3040
Orphanet52 ORPHA337
ICD10 via Orphanet29 M61.1
MESH via Orphanet38 D009221
UMLS via Orphanet67 C0016037
MedGen35 C0016037

Summaries for Fibrodysplasia Ossificans Progressiva

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NIH Rare Diseases:46 Fibrodysplasia ossificans progressiva (fop) is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). this condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) that restricts movement. this process generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs. people with fop are born with abnormal big toes (hallux valgus) which can be helpful in making the diagnosis. trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation (myositis). these flareups lasts for several days to months and often result in permanent bone growth in the injured area. fop is almost always caused by a mutation at the same place in the acvr1 gene and is inherited in an autosomal dominant manner. this condition occurs in about 1 in 1,600,000 newborns and about 800 people worldwide are known to have fop. last updated: 6/5/2014

MalaCards based summary: Fibrodysplasia Ossificans Progressiva, also known as myositis ossificans, is related to osseous heteroplasia, progressive and myositis, and has symptoms including abnormality of the skin, limitation of joint mobility and spinal rigidity. An important gene associated with Fibrodysplasia Ossificans Progressiva is ACVR1 (Activin A Receptor Type 1), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and Heart Development. Affiliated tissues include bone, skeletal muscle and skin, and related mouse phenotypes are hearing/vestibular/ear and integument.

Disease Ontology:11 .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.

UniProtKB/Swiss-Prot:68 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:24 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:50 Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving... (135100) more...

Wikipedia:69 Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease. The disease... more...

Related Diseases for Fibrodysplasia Ossificans Progressiva

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



Diseases related to fibrodysplasia ossificans progressiva

Symptoms for Fibrodysplasia Ossificans Progressiva

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Symptoms by clinical synopsis from OMIM:

135100

Clinical features from OMIM:

135100

Symptoms:

 52 (show all 20)
  • hearing impairment
  • glaucoma
  • intellectual disability
  • seizures
  • limitation of joint mobility
  • subcutaneous nodule
  • failure to thrive
  • alopecia
  • hallux valgus
  • anemia
  • respiratory insufficiency
  • spinal rigidity
  • abnormality of the vertebrae
  • clinodactyly of the 5th finger
  • abnormality of the first metatarsal bone
  • aplasia/hypoplasia of the phalanges of the hallux
  • short hallux
  • ectopic ossification in muscle tissue
  • ectopic ossification in ligament tissue
  • synostosis of joints

HPO human phenotypes related to Fibrodysplasia Ossificans Progressiva:

(show all 32)
id Description Frequency HPO Source Accession
1 abnormality of the skin hallmark (90%) HP:0000951
2 limitation of joint mobility hallmark (90%) HP:0001376
3 spinal rigidity hallmark (90%) HP:0003306
4 short hallux hallmark (90%) HP:0010109
5 ectopic calcification hallmark (90%) HP:0010766
6 respiratory insufficiency typical (50%) HP:0002093
7 clinodactyly of the 5th finger typical (50%) HP:0004209
8 glaucoma occasional (7.5%) HP:0000501
9 seizures occasional (7.5%) HP:0001250
10 hallux valgus occasional (7.5%) HP:0001822
11 anemia occasional (7.5%) HP:0001903
12 cognitive impairment occasional (7.5%) HP:0100543
13 intellectual disability 6% HP:0001249
14 conductive hearing impairment HP:0000405
15 sensorineural hearing impairment HP:0000407
16 widely spaced teeth HP:0000687
17 alopecia HP:0001596
18 hallux valgus HP:0001822
19 respiratory insufficiency HP:0002093
20 scoliosis HP:0002650
21 respiratory failure HP:0002878
22 metaphyseal widening HP:0003016
23 clinodactyly of the 5th finger HP:0004209
24 small cervical vertebral bodies HP:0004629
25 broad femoral neck HP:0006429
26 progressive cervical vertebral spine fusion HP:0008449
27 short 1st metacarpal HP:0010034
28 abnormality of the first metatarsal bone HP:0010054
29 short hallux HP:0010109
30 ectopic ossification in muscle tissue HP:0011987
31 ectopic ossification in tendon tissue HP:0011988
32 ectopic ossification in ligament tissue HP:0011989

Drugs & Therapeutics for Fibrodysplasia Ossificans Progressiva

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
TretinoinPhase 2218302-79-45538
Synonyms:
(all-e)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
.beta.-Retinoic acid
13497-05-7 (hydrochloride salt)
15-Apo-beta-caroten-15-oic acid
187175-63-9
1n4h
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ecl)
302-79-4
5300-03-8
56573-65-0
7005-78-9
9(Z)-Retinoic acid
9-cis-RA
A-Acido (Argentina)
A-Vitaminsyre
A-Vitaminsyre [Denmark]
AC-6824
AC1L9GWO
AC1Q1J2J
AGN 100335
AGN 192013
AKOS000280845
ALRT 1057
AT-RA
ATRA
Aberel
Aberela
Aberela [Norway]
Accutane Roche
Acid A Vit (Belgium, Netherlands)
Acid, Retinoic
Acid, Vitamin A
Acid, all-trans-Retinoic
Acid, beta-all-trans-Retinoic
Acid, trans-Retinoic
Acide retinoique (French) (DSL)
Acide retinoique (french) (dsl)
Acnavit
Acnavit [Denmark]
Airol
Aknefug
Aknoten
Alitretinoin
All Trans Retinoic Acid
All Trans-Retinoic Acid
All-trans Retinoic Acid
Alltrans-retinoic acid
Amnesteem
Atra-IV
Atragen
Atralin
Avita (TN)
Avita Gel
Avitoin
Avitoin [Norway]
BAL4079
BIDD:GT0483
BIDD:PXR0081
BML2-E05
BPBio1_000082
BRN 2057223
BSPBio_000074
BSPBio_001500
Betarretin
C00777
CCRIS 3294
CCRIS 7098
CHEBI:15367
CHEMBL38
CID444795
CPD000058245
Claravis
Cordes VAS [Germany]
Cordes vas
D00094
D014212
DB00523
DB00755
DB00982
Dermairol
EINECS 206-129-0
EU-0101061
Effederm
Effederm [France]
Epi-aberel
Eudyna
HMS1361K22
HMS1568D16
HMS1791K22
HMS1921D14
HMS1989K22
HMS2089D20
HMS2092N11
HMS502N05
HSDB 2169
HSDB 7186
I04-0008
I14-2351
IDI1_000903
IDI1_033970
Isotretinoin Retinoic acid
L000833
LGD 100057
LMPR01090019
LS-1154
Lopac0_001061
Lsotretinoin
MLS000028588
MLS001076515
MLS002207234
MLS002222211
MolPort-000-883-857
NCGC00017280-06
NCGC00017280-17
NCGC00021808-04
 
NCGC00021808-05
NCGC00021808-06
NCGC00021808-07
NCGC00021808-09
NCGC00021808-14
NCGC00021808-15
NSC 122758
NSC-122758
NSC122758
Nexret
PDT-002-002
Panretin Gel
Panretyn
Potassium Salt, Tretinoin
Prestwick2_000257
Prestwick3_000257
Prestwick_424
R 2625
R0064
R2625_SIGMA
REA
RETINOIC ACID, ALL TRANS
RETINOIC acid
Renova
Renova (TN)
Retacnyl
Retin A
Retin A (TN)
Retin-A
Retin-A Micro
Retin-a
Retinoate
Retinoic acid
Retinoic acid, all-trans- (8CI)
Retinova
Retionic Acid
Retionic acid
Retisol-A
Retisol-a
Ro 1-5488
S1653_Selleck
SAM002264647
SMR000058245
SPECTRUM1502016
SR-01000000239
SR-01000000239-14
ST057075
Salt, Tretinoin Potassium
Salt, Tretinoin Sodium
Salt, Tretinoin Zinc
Sodium Salt, Tretinoin
Solage
Sotret
Spectrum5_001746
Spectrum5_001933
Stieva-A
Stieva-a
Stieva-a Forte
TRETINON
Tretin M
Tretin m
Tretinoin
Tretinoin (JAN/USP/INN)
Tretinoin (TN)
Tretinoin 0.1% cream or placebo
Tretinoin Potassium Salt
Tretinoin Sodium Salt
Tretinoin Zinc Salt
Tretinoin [USAN:INN:BAN]
Tretinoin/All-Trans Retinoic Acid
Tretinoina
Tretinoina [INN-Spanish]
Tretinoine
Tretinoine (french) (einecs)
Tretinoine [INN-French]
Tretinoino
Tretinoino [INN-Spanish]
Tretinoinum
Tretinoinum [INN-Latin]
Tri-Luma
Trétinoïne
UNII-1UA8E65KDZ
UNII-5688UTC01R
UPCMLD-DP097
Vesanoid
Vesanoid (TN)
Vesanoid, Airol, Renova, Atralin, Retin-A, Avita, Tretinoin
Vesnaroid
Vitamin A acid
Vitinoin
WLN: L6UTJ A1 B1U1Y1 & U2U1Y1 & U1VQ C1 C1
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U1VQ C1 C1
Zinc Salt, Tretinoin
[3H]Retinoic acid
all trans-Retinoic acid
all-(E)-Retinoic acid
all-(e)-Retinoic acid
all-trans-Retinoic acid
all-trans-Tretinoin
all-trans-Vitamin A acid
all-trans-Vitamin A1 acid
all-trans-Vitamin a acid
all-trans-Vitamin a1 acid
all-trans-b-Retinoic acid
all-trans-beta-Retinoic acid
b-Retinoic acid
beta all trans Retinoic Acid
beta-Ra
beta-Retinoic Acid
beta-Retinoic acid
beta-all-trans-Retinoic acid
bmse000562
nchembio.154-comp2
trans Retinoic Acid
trans-Retinoic acid
tretinoin
tretinoin liposome
tretinoine (French) (EINECS)

Interventional clinical trials:

idNameStatusNCT IDPhase
1In-Home Evaluation of Episodic Administration of Palovarotene in Fibrodysplasia Ossificans Progressiva (FOP) SubjectsRecruitingNCT02521792Phase 2
2An Open-Label Extension Study of Palovarotene to Treat Preosseous Flare-ups in FOP SubjectsRecruitingNCT02279095Phase 2
3An Efficacy and Safety Study of Palovarotene to Treat Preosseous Flare-ups in FOP SubjectsActive, not recruitingNCT02190747Phase 2
4Urine Sample Collection From FOP PatientsCompletedNCT02066324
5The Fibrodysplasia Ossificans Progressiva (FOP) Connection RegistryRecruitingNCT02745158
6A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP)RecruitingNCT02322255
7Discovering the Gene(s) Causing Developmental Dysplasia of the Hip (DDH)Active, not recruitingNCT01193673

Search NIH Clinical Center for Fibrodysplasia Ossificans Progressiva


Cochrane evidence based reviews: myositis ossificans

Genetic Tests for Fibrodysplasia Ossificans Progressiva

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Genetic tests related to Fibrodysplasia Ossificans Progressiva:

id Genetic test Affiliating Genes
1 Progressive Myositis Ossificans25
2 Fibrodysplasia Ossificans Progressiva23 ACVR1

Anatomical Context for Fibrodysplasia Ossificans Progressiva

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MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

34
Bone, Skeletal muscle, Skin, Endothelial, Smooth muscle, Bone marrow

Animal Models for Fibrodysplasia Ossificans Progressiva or affiliated genes

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MGI Mouse Phenotypes related to Fibrodysplasia Ossificans Progressiva:

39 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5ACVR1, BMP4, BMPR1A, FOS, MSX2, NOG
2MP:00107718.0BMP4, BMPR1A, FOS, MSX2, NOG, SMAD7
3MP:00053897.9BMP4, BMPR1A, FOS, ID3, NOG, SMAD7
4MP:00053917.8BMP4, BMPR1A, FOS, ID3, MSX2, NOG
5MP:00036317.6ACVR1, BMP4, BMPR1A, FOS, ID3, MSX2
6MP:00053847.6ACVR1, BMP4, BMPR1A, FOS, ID3, NOG
7MP:00053697.4ACVR1, BMP1, BMP4, BMPR1A, MSX2, NOG
8MP:00053877.2ACVR1, BMP1, BMPR1A, FOS, ID3, MSX2
9MP:00053817.2ACVR1, BMP1, BMP4, ID3, MSX2, NOG
10MP:00053717.1ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
11MP:00053977.1BMP1, BMP4, BMPR1A, FOS, ID3, MSX2
12MP:00053827.1ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
13MP:00028737.1BMP4, BMPR1A, FOS, ID3, MSX2, NOG
14MP:00053797.0BMP4, BMPR1A, FOS, ID3, MSX2, NOG
15MP:00053906.9ACVR1, BMP1, BMP4, BMPR1A, FOS, ID3
16MP:00053856.6ACVR1, BMP1, BMP4, BMPR1A, ID3, MSX2
17MP:00053766.6ACVR1, BMP1, BMP4, BMPR1A, FOS, ID3
18MP:00053806.4ACVR1, BMP1, BMP4, BMPR1A, FOS, ID3
19MP:00107686.3ACVR1, BMP1, BMP4, BMPR1A, FOS, ID3
20MP:00053786.1ACVR1, BMP1, BMP4, BMPR1A, FOS, ID3

Publications for Fibrodysplasia Ossificans Progressiva

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Articles related to Fibrodysplasia Ossificans Progressiva:

(show top 50)    (show all 344)
idTitleAuthorsYear
1
ACVR1-Fc suppresses BMP signaling and chondro-osseous differentiation in an in vitro model of Fibrodysplasia ossificans progressiva. (27492611)
2016
2
Fibrodysplasia ossificans progressiva. A case report and focus on the BMP signaling pathway. (26948676)
2016
3
Classical and atypical Fibrodysplasia Ossificans Progressiva in India. (26058333)
2015
4
Fibrodysplasia Ossificans Progressiva. (26267714)
2015
5
Induced Pluripotent Stem Cells to Model Human Fibrodysplasia Ossificans Progressiva. (26626181)
2015
6
Fibrodysplasia ossificans progressiva misdiagnosed as cervical exostosis. (25832962)
2015
7
Clinical and molecular characterisation of two siblings with fibrodysplasia ossificans progressiva, from the Colombian Pacific coast (South America). (26055602)
2015
8
Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. (20349070)
2012
9
The danger of biopsy in fibrodysplasia ossificans progressiva. (22447993)
2012
10
The face signature of fibrodysplasia ossificans progressiva. (22581580)
2012
11
Fibrodysplasia ossificans progressiva: anesthetic management in complex orthopedic spine procedures. (22050800)
2011
12
Improvement of mouth opening for a patient with fibrodysplasia ossificans progressiva: a case report. (22070362)
2011
13
Fibrodysplasia ossificans progressiva detected on FDG PET/CT. (21892060)
2011
14
Fibrodysplasia ossificans progressiva: a blueprint for metamorphosis. (22082359)
2011
15
Fibrodysplasia ossificans progressiva (FOP): watch the great toes! (20577760)
2010
16
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. (18684712)
2009
17
Fibrodysplasia ossificans progressiva in a Maine Coon cat with prominent ossification in dorsal muscle. (20046034)
2009
18
Submandibular space swelling in a patient with fibrodysplasia ossificans progressiva: a diagnostic dilemma. (19231799)
2009
19
Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. (19330033)
2009
20
Lumbar puncture and surgical intervention in a child with undiagnosed fibrodysplasia ossificans progressiva. (18352811)
2008
21
Response to &quot;Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)&quot; by Lucotte et al. (18990993)
2008
22
Fibrodysplasia ossificans progressiva seen on three-dimensional computed tomography. (18163494)
2008
23
Early diagnosis of fibrodysplasia ossificans progressiva. (18450872)
2008
24
Dysregulated BMP signaling and enhanced osteogenic differentiation of connective tissue progenitor cells from patients with fibrodysplasia ossificans progressiva (FOP). (17967130)
2008
25
HSPG modulation of BMP signaling in fibrodysplasia ossificans progressiva cells. (17516498)
2007
26
Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP). (18019378)
2007
27
A new era for fibrodysplasia ossificans progressiva: a druggable target for the second skeleton. (17477807)
2007
28
Optimal treatment of fibrodysplasia ossificans progressiva with surgical excision of heterotopic bone, indomethacin, and irradiation. (16919202)
2006
29
De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva. (17077940)
2006
30
Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. (16230464)
2005
31
Anesthetic management in fibrodysplasia ossificans progressiva (FOP): a case report. (12770658)
2003
32
Fibrodysplasia ossificans progressiva (FOP). (12951384)
2003
33
Stromal cells of fibrodysplasia ossificans progressiva lesions express smooth muscle lineage markers and the osteogenic transcription factor Runx2/Cbfa-1: clues to a vascular origin of heterotopic ossification? (12950027)
2003
34
Fibrodysplasia ossificans progressiva and corneal keloid. (12352096)
2002
35
Question: Bone marrow transplant for fibrodysplasia ossificans progressiva: has the hour arrived? (11716421)
2001
36
Familial fibrodysplasia ossificans progressiva: trial with etidronate disodium. (11721075)
2001
37
A 3 year old girl with fibrodysplasia ossificans progressiva. (10646326)
1999
38
Conductive hearing loss in individuals with fibrodysplasia ossificans progressiva. (10499116)
1999
39
The stone man: myositis (fibrodysplasia) ossificans progressiva. (9510591)
1998
40
Mechanism for superior subluxation of the glenohumeral joint in fibrodysplasia ossificans progressiva. (9577420)
1998
41
Fibrodysplasia ossificans progressiva why do some people have two skeletons? (19078161)
1997
42
Fibrodysplasia ossificans progressiva -- lessons from rare maladies. (8678940)
1996
43
A remarkable transport device for a fibrodysplasia ossificans progressiva patient. (1584646)
1992
44
General anesthesia and fibrodysplasia ossificans progressiva. (2913851)
1989
45
Fibrodysplasia ossificans progressiva. (4045897)
1985
46
Radiological case of the month: fibrodysplasia ossificans progressiva. (6847962)
1983
47
Fibrodysplasia ossificans progressiva. (6981979)
1982
48
Elevated prostaglandin production in cultured cells from a patient with fibrodysplasia ossificans progressiva. (415337)
1978
49
Fibrodysplasia ossificans progressiva. Biochemical changes in blood serum, urine, skin, bone, and ectopic ossification. (705273)
1978
50
Histochemical and ultrastructural studies in fibrodysplasia ossificans progressiva (myositis ossificans progressiva). (141214)
1977

Variations for Fibrodysplasia Ossificans Progressiva

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

68
id Symbol AA change Variation ID SNP ID
1ACVR1p.Arg206HisVAR_028444rs121912678
2ACVR1p.Arg202IleVAR_058419rs387906591
3ACVR1p.Gln207GluVAR_058420
4ACVR1p.Gly328GluVAR_058421rs387906589
5ACVR1p.Gly328ArgVAR_058422
6ACVR1p.Gly328TrpVAR_058423rs387906588
7ACVR1p.Gly356AspVAR_058424rs121912679
8ACVR1p.Arg375ProVAR_058425rs387906590

Clinvar genetic disease variations for Fibrodysplasia Ossificans Progressiva:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ACVR1NM_001105.4(ACVR1): c.617G> A (p.Arg206His)single nucleotide variantPathogenicrs121912678GRCh37Chr 2, 158630626: 158630626
2ACVR1NM_001105.4(ACVR1): c.1067G> A (p.Gly356Asp)single nucleotide variantPathogenicrs121912679GRCh37Chr 2, 158617589: 158617589
3ACVR1NM_001105.4(ACVR1): c.774G> C (p.Arg258Ser)single nucleotide variantPathogenicrs121912680GRCh37Chr 2, 158626896: 158626896
4ACVR1NM_001105.4(ACVR1): c.587T> C (p.Leu196Pro)single nucleotide variantPathogenicrs797045135GRCh37Chr 2, 158630656: 158630656
5ACVR1NM_001105.4(ACVR1): c.772A> G (p.Arg258Gly)single nucleotide variantLikely pathogenicrs863224846GRCh37Chr 2, 158626898: 158626898
6ACVR1NM_001105.4(ACVR1): c.982G> A (p.Gly328Arg)single nucleotide variantPathogenicrs387906588GRCh37Chr 2, 158622517: 158622517
7ACVR1NM_001105.4(ACVR1): c.982G> T (p.Gly328Trp)single nucleotide variantPathogenicrs387906588GRCh37Chr 2, 158622517: 158622517
8ACVR1NM_001105.4(ACVR1): c.983G> A (p.Gly328Glu)single nucleotide variantPathogenicrs387906589GRCh37Chr 2, 158622516: 158622516
9ACVR1NM_001105.4(ACVR1): c.1124G> C (p.Arg375Pro)single nucleotide variantPathogenicrs387906590GRCh37Chr 2, 158617532: 158617532
10ACVR1NM_001105.4(ACVR1): c.605G> T (p.Arg202Ile)single nucleotide variantPathogenicrs387906591GRCh37Chr 2, 158630638: 158630638

Expression for genes affiliated with Fibrodysplasia Ossificans Progressiva

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

Pathways for genes affiliated with Fibrodysplasia Ossificans Progressiva

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

(show all 20)
idSuper pathwaysScoreTop Affiliating Genes
19.7BMP4, BMPR1A
29.7BMP4, BMPR1A
3
Show member pathways
9.3ACVR1, SMAD7
49.3BMP4, BMPR1A, NOG
59.3ACVR1, BMP4, ID3
69.2BMP1, BMP4, NOG
79.2BMP1, BMP4, FOS
89.1BMP4, MSX2, NOG
99.1BMP1, BMP4, ID3
10
Show member pathways
9.0ACVR1, BMP4, BMPR1A, NOG
11
Show member pathways
9.0ACVR1, BMP4, BMPR1A, NOG
12
Show member pathways
8.9ACVR1, BMP4, BMPR1A, FOS
138.9BMP4, BMPR1A, SMAD7
148.8ACVR1, BMP4, BMPR1A, ID3
15
Show member pathways
8.8BMPR1A, NOG, SMAD7
168.5BMP4, FOS, NOG, SMAD7
17
Show member pathways
8.4ACVR1, BMP1, BMP4, BMPR1A, FOS
18
Show member pathways
8.4ACVR1, BMP1, BMP4, BMPR1A, FOS
19
Show member pathways
8.4BMP1, BMP4, FOS, SMAD7
20
Show member pathways
7.6ACVR1, BMP4, BMPR1A, ID3, NOG, SMAD7

GO Terms for genes affiliated with Fibrodysplasia Ossificans Progressiva

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

idNameGO IDScoreTop Affiliating Genes
1membrane-bounded vesicleGO:00319889.6BMP1, BMP4

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

(show top 50)    (show all 59)
idNameGO IDScoreTop Affiliating Genes
1lung morphogenesisGO:006042510.4BMP4, NOG
2negative regulation of extrinsic apoptotic signaling pathwayGO:200123710.4ACVR1, BMP4
3embryonic skeletal joint morphogenesisGO:006027210.3BMP4, NOG
4endocardial cushion morphogenesisGO:000320310.3ACVR1, BMPR1A
5smooth muscle cell differentiationGO:005114510.3ACVR1, BMP4
6cardiac right ventricle morphogenesisGO:000321510.3BMP4, BMPR1A
7pharyngeal arch artery morphogenesisGO:006162610.3BMP4, BMPR1A
8embryonic morphogenesisGO:004859810.3BMP4, BMPR1A
9germ cell developmentGO:000728110.3ACVR1, BMP4
10mitral valve morphogenesisGO:000318310.2ACVR1, BMPR1A
11positive regulation of SMAD protein import into nucleusGO:006039110.2BMP4, BMPR1A
12negative regulation of osteoblast differentiationGO:004566810.2ID3, NOG
13cranial suture morphogenesisGO:006036310.2BMP4, MSX2
14epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.2BMP4, MSX2
15metanephros developmentGO:000165610.1BMP4, ID3
16positive regulation of cartilage developmentGO:006103610.1BMP1, BMP4
17anatomical structure formation involved in morphogenesisGO:004864610.1BMP4, NOG
18negative regulation of myoblast differentiationGO:004566210.1BMP4, ID3
19positive regulation of BMP signaling pathwayGO:003051310.0BMP4, MSX2
20embryonic hindlimb morphogenesisGO:003511610.0BMP4, MSX2
21pathway-restricted SMAD protein phosphorylationGO:006038910.0ACVR1, SMAD7
22positive regulation of bone mineralizationGO:003050110.0ACVR1, BMP4, BMPR1A
23ventricular septum morphogenesisGO:00604129.9ACVR1, SMAD7
24positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:19028959.9BMP4, BMPR1A, FOS
25pituitary gland developmentGO:00219839.9BMP4, BMPR1A, NOG
26BMP signaling pathway involved in heart developmentGO:00613129.8ACVR1, BMP4, MSX2
27in utero embryonic developmentGO:00017019.8ACVR1, BMPR1A, NOG
28SMAD protein signal transductionGO:00603959.8BMP1, BMP4, FOS
29negative regulation of pathway-restricted SMAD protein phosphorylationGO:00603949.8NOG, SMAD7
30negative regulation of gene expressionGO:00106299.7BMP4, ID3, NOG
31positive regulation of epithelial cell proliferationGO:00506799.6BMP4, BMPR1A, NOG
32skeletal system developmentGO:00015019.5BMP1, BMP4, NOG
33odontogenesisGO:00424769.5BMP4, ID3, MSX2
34outflow tract morphogenesisGO:00031519.5BMP4, BMPR1A, MSX2
35osteoblast differentiationGO:00016499.5BMP4, MSX2, NOG
36mesoderm formationGO:00017079.4ACVR1, BMP4, BMPR1A, NOG
37cartilage developmentGO:00512169.4BMPR1A, MSX2, NOG
38outflow tract septum morphogenesisGO:00031489.4ACVR1, BMP4, BMPR1A, MSX2
39ureteric bud developmentGO:00016579.4BMP4, NOG, SMAD7
40positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.3ACVR1, BMP1, BMP4, BMPR1A
41cellular response to BMP stimulusGO:00717739.3ACVR1, BMP4, BMPR1A, NOG
42positive regulation of transcription, DNA-templatedGO:00458939.3ACVR1, BMP4, BMPR1A, FOS
43embryonic digit morphogenesisGO:00427339.2BMP4, BMPR1A, MSX2, NOG
44wound healingGO:00420609.1BMP4, MSX2, NOG
45positive regulation of osteoblast differentiationGO:00456699.1ACVR1, BMP4, BMPR1A, MSX2
46transforming growth factor beta receptor signaling pathwayGO:00071799.0ACVR1, BMPR1A, FOS, SMAD7
47heart developmentGO:00075078.9ACVR1, BMP4, BMPR1A, ID3
48negative regulation of transcription from RNA polymerase II promoterGO:00001227.7BMP4, ID3, MSX2, NOG, SMAD7
49positive regulation of transcription from RNA polymerase II promoterGO:00459447.4ACVR1, BMP4, BMPR1A, FOS, NOG, SMAD7
50BMP signaling pathwayGO:00305097.4ACVR1, BMP1, BMP4, BMPR1A, MSX2, NOG

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1receptor signaling protein serine/threonine kinase activityGO:000470210.3ACVR1, BMPR1A
2transmembrane receptor protein serine/threonine kinase activityGO:000467510.3ACVR1, BMPR1A
3transforming growth factor beta receptor bindingGO:000516010.2BMP1, BMP4
4SMAD bindingGO:004633210.1ACVR1, BMPR1A
5activin bindingGO:004818510.0ACVR1, SMAD7
6transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00009829.8FOS, MSX2
7transcription factor bindingGO:00081348.9FOS, ID3, MSX2
8transcription regulatory region DNA bindingGO:00442128.9FOS, MSX2, SMAD7
9protein homodimerization activityGO:00428038.9ACVR1, BMP4, BMPR1A, NOG

Sources for Fibrodysplasia Ossificans Progressiva

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet