MCID: FBR011
MIFTS: 62

Fibrodysplasia Ossificans Progressiva malady

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

Aliases & Classifications for Fibrodysplasia Ossificans Progressiva

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Fibrodysplasia Ossificans Progressiva:

Name: Fibrodysplasia Ossificans Progressiva 51 11 47 24 25 53 69 12 49 13 67
Myositis Ossificans 47 25 69 38 67
Myositis Ossificans Progressiva 11 47 25 53
Progressive Myositis Ossificans 11 47 25
Progressive Ossifying Myositis 11 47 25
 
Fop 47 53 69
Myositis Ossificans Progressive 69 26
Stone Man Syndrome 11 53
Man of Stone 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
fibrodysplasia ossificans progressiva:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 135100
Disease Ontology11 DOID:13374
ICD1029 M61.1, M61.10
ICD9CM31 728.11
MeSH38 D009221
NCIt44 C3040
Orphanet53 ORPHA337
MESH via Orphanet39 D009221
ICD10 via Orphanet30 M61.1
UMLS via Orphanet68 C0016037
MedGen36 C0016037

Summaries for Fibrodysplasia Ossificans Progressiva

About this section
NIH Rare Diseases:47 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 exostoses, multiple, type 1 and osseous heteroplasia, progressive, 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 Heart Development and Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include bone, skeletal muscle and skin, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

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.

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.

OMIM:51 Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving... (135100) more...

UniProtKB/Swiss-Prot:69 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:70 Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease. The disease... more...

Related Diseases for Fibrodysplasia Ossificans Progressiva

About this section

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

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1exostoses, multiple, type 111.3
2osseous heteroplasia, progressive11.3
3myositis10.4
4myositis ossificans10.4
5syphilitic myelopathy10.3BMP4, NOG
6ankylosis10.3
7cervicitis10.3
8osteochondroma10.3
9short qt syndrome10.3BMP4, NOG
10glutamate formiminotransferase deficiency10.2NOG, TGFB1
11spondylitis10.2
12leukemia10.2BMP4, TGFB1
13idiopathic corneal edema10.2BMP4, TGFB1
14vulvovaginitis10.1ACVR1, BMP4, NOG
15pulmonary hypertension10.0
16keloids10.0
17scoliosis10.0
18osteomyelitis10.0
19dermatomyositis10.0
20klippel-feil syndrome10.0
21sarcoma10.0
22pertussis10.0
23tetanus10.0
24diphtheria10.0
25vascular disease10.0
26calcinosis10.0
27exostosis10.0
28paget's disease of bone10.0
29influenza10.0
30enchondroma10.0
31propriospinal myoclonus10.0
32synovial chondromatosis10.0
33myoclonus10.0
34endotheliitis10.0
35autosomal dominant sideroblastic anemia10.0BMP1, BMPR1A
36glomerulosclerosis, focal segmental, 710.0BMPR1A, TGFB1
37multiple synostoses syndrome10.0BMP4, TGFB1
38achard syndrome10.0BMP1, BMP4, FOS
39descending colon cancer9.9BMP4, NOG, TGFB1
40cerebral creatine deficiency syndrome9.9BMP4, BMPR1A, NOG
41chondrocalcinosis 29.8ACVR1, BMP1, MSX2
42beare-stevenson cutis gyrata syndrome9.8MSX2, TGFB1
43twin-to-twin transfusion syndrome9.8SMAD7, TGFB1
44loin pain hematuria syndrome9.8SMAD7, TGFB1
45benign neonatal seizures9.7SMAD7, TGFB1
46nephropathy familial with hyperuricemia9.7SMAD7, TGFB1
47ischemic bone disease9.6MSX2, NOG
48benign struma ovarii9.5SMAD7, TGFB1

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



Diseases related to fibrodysplasia ossificans progressiva

Symptoms for Fibrodysplasia Ossificans Progressiva

About this section

Symptoms by clinical synopsis from OMIM:

135100

Clinical features from OMIM:

135100

Human phenotypes related to Fibrodysplasia Ossificans Progressiva:

 63 53 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the skin63 hallmark (90%) HP:0000951
2 limitation of joint mobility63 53 hallmark (90%) Very frequent (99-80%) HP:0001376
3 spinal rigidity63 53 hallmark (90%) Very frequent (99-80%) HP:0003306
4 short hallux63 53 hallmark (90%) Very frequent (99-80%) HP:0010109
5 ectopic calcification63 hallmark (90%) HP:0010766
6 respiratory insufficiency63 53 typical (50%) Frequent (79-30%) HP:0002093
7 clinodactyly of the 5th finger63 53 typical (50%) Frequent (79-30%) HP:0004209
8 glaucoma63 53 occasional (7.5%) Occasional (29-5%) HP:0000501
9 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
10 hallux valgus63 53 occasional (7.5%) Occasional (29-5%) HP:0001822
11 anemia63 53 occasional (7.5%) Occasional (29-5%) HP:0001903
12 cognitive impairment63 occasional (7.5%) HP:0100543
13 intellectual disability63 53 6% Occasional (29-5%) HP:0001249
14 conductive hearing impairment63 HP:0000405
15 sensorineural hearing impairment63 HP:0000407
16 widely spaced teeth63 HP:0000687
17 alopecia63 53 Frequent (79-30%) HP:0001596
18 scoliosis63 HP:0002650
19 respiratory failure63 HP:0002878
20 metaphyseal widening63 HP:0003016
21 small cervical vertebral bodies63 HP:0004629
22 broad femoral neck63 HP:0006429
23 progressive cervical vertebral spine fusion63 HP:0008449
24 short 1st metacarpal63 HP:0010034
25 abnormality of the first metatarsal bone63 53 Very frequent (99-80%) HP:0010054
26 ectopic ossification in muscle tissue63 53 Very frequent (99-80%) HP:0011987
27 ectopic ossification in tendon tissue63 HP:0011988
28 ectopic ossification in ligament tissue63 53 Very frequent (99-80%) HP:0011989
29 hearing impairment53 Frequent (79-30%)
30 subcutaneous nodule53 Very frequent (99-80%)
31 failure to thrive53 Occasional (29-5%)
32 abnormality of the vertebrae53 Very frequent (99-80%)
33 aplasia/hypoplasia of the phalanges of the hallux53 Frequent (79-30%)
34 synostosis of joints53 Occasional (29-5%)

Drugs & Therapeutics for Fibrodysplasia Ossificans Progressiva

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tretinoinapproved, investigational, nutraceuticalPhase 2220302-79-45538
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
1An Open-Label Extension Study of Palovarotene to Treat Preosseous Flare-ups in FOP SubjectsRecruitingNCT02279095Phase 2
2An Open-Label Extension Study of Palovarotene to Prevent Heterotopic Ossification in FOP Subjects in FranceRecruitingNCT02979769Phase 2
3An Efficacy and Safety Study of Palovarotene to Treat Preosseous Flare-ups in FOP SubjectsActive, not recruitingNCT02190747Phase 2
4In-Home Evaluation of Episodic Administration of Palovarotene in Fibrodysplasia Ossificans Progressiva (FOP) SubjectsSuspendedNCT02521792Phase 2
5Urine Sample Collection From FOP PatientsCompletedNCT02066324
6A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP)RecruitingNCT02322255
7The Fibrodysplasia Ossificans Progressiva (FOP) Connection RegistryRecruitingNCT02745158
8Discovering 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

About this section

Genetic tests related to Fibrodysplasia Ossificans Progressiva:

id Genetic test Affiliating Genes
1 Progressive Myositis Ossificans26
2 Fibrodysplasia Ossificans Progressiva24 ACVR1

Anatomical Context for Fibrodysplasia Ossificans Progressiva

About this section

MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

35
Bone, Skeletal muscle, Skin, Endothelial, Smooth muscle, Bone marrow

Animal Models for Fibrodysplasia Ossificans Progressiva or affiliated genes

About this section

MGI Mouse Phenotypes related to Fibrodysplasia Ossificans Progressiva:

40 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5ACVR1, BMP4, BMPR1A, FOS, MSX2, NOG
2MP:00053918.0BMP4, BMPR1A, FOS, MSX2, NOG, TGFB1
3MP:00053897.9BMP4, BMPR1A, FOS, NOG, SMAD7, TGFB1
4MP:00053717.8ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
5MP:00028737.7BMP4, BMPR1A, FOS, MSX2, NOG, SMAD7
6MP:00053847.6ACVR1, BMP4, BMPR1A, FOS, NOG, SMAD7
7MP:00036317.4ACVR1, BMP4, BMPR1A, FOS, MSX2, NOG
8MP:00053797.3BMP4, BMPR1A, FOS, MSX2, NOG, SMAD7
9MP:00053907.3ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
10MP:00107717.2BMP4, BMPR1A, FOS, MSX2, NOG, SMAD7
11MP:00053867.1ACVR1, BMP4, BMPR1A, FOS, MSX2, SMAD7
12MP:00053877.0ACVR1, BMP1, BMPR1A, FOS, MSX2, SMAD7
13MP:00053977.0BMP1, BMP4, BMPR1A, FOS, MSX2, SMAD7
14MP:00053816.9ACVR1, BMP1, BMP4, MSX2, NOG, SMAD7
15MP:00053696.9ACVR1, BMP1, BMP4, BMPR1A, MSX2, NOG
16MP:00053766.6ACVR1, BMP1, BMP4, BMPR1A, FOS, NOG
17MP:00053806.5ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
18MP:00053826.3ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
19MP:00107686.2ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
20MP:00053856.2ACVR1, BMP1, BMP4, BMPR1A, MSX2, NOG
21MP:00053786.1ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2

Publications for Fibrodysplasia Ossificans Progressiva

About this section

Articles related to Fibrodysplasia Ossificans Progressiva:

(show top 50)    (show all 349)
idTitleAuthorsYear
1
ACVR1-Fc suppresses BMP signaling and chondro-osseous differentiation in an in vitro model of Fibrodysplasia ossificans progressiva. (27492611)
2016
2
Early Recognition of Fibrodysplasia Ossificans Progressiva-Important For the Clinician. (27935932)
2016
3
Fibrodysplasia ossificans progressiva. A case report and focus on the BMP signaling pathway. (26948676)
2016
4
Classical and atypical Fibrodysplasia Ossificans Progressiva in India. (26058333)
2015
5
Fibrodysplasia Ossificans Progressiva. (26267714)
2015
6
Induced Pluripotent Stem Cells to Model Human Fibrodysplasia Ossificans Progressiva. (26626181)
2015
7
Fibrodysplasia ossificans progressiva misdiagnosed as cervical exostosis. (25832962)
2015
8
Clinical and molecular characterisation of two siblings with fibrodysplasia ossificans progressiva, from the Colombian Pacific coast (South America). (26055602)
2015
9
Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. (20349070)
2012
10
The danger of biopsy in fibrodysplasia ossificans progressiva. (22447993)
2012
11
The face signature of fibrodysplasia ossificans progressiva. (22581580)
2012
12
Fibrodysplasia ossificans progressiva: anesthetic management in complex orthopedic spine procedures. (22050800)
2011
13
Improvement of mouth opening for a patient with fibrodysplasia ossificans progressiva: a case report. (22070362)
2011
14
Fibrodysplasia ossificans progressiva detected on FDG PET/CT. (21892060)
2011
15
Fibrodysplasia ossificans progressiva: a blueprint for metamorphosis. (22082359)
2011
16
Fibrodysplasia ossificans progressiva (FOP): watch the great toes! (20577760)
2010
17
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. (18684712)
2009
18
Fibrodysplasia ossificans progressiva in a Maine Coon cat with prominent ossification in dorsal muscle. (20046034)
2009
19
Submandibular space swelling in a patient with fibrodysplasia ossificans progressiva: a diagnostic dilemma. (19231799)
2009
20
Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. (19330033)
2009
21
Lumbar puncture and surgical intervention in a child with undiagnosed fibrodysplasia ossificans progressiva. (18352811)
2008
22
Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al. (18990993)
2008
23
Fibrodysplasia ossificans progressiva seen on three-dimensional computed tomography. (18163494)
2008
24
Early diagnosis of fibrodysplasia ossificans progressiva. (18450872)
2008
25
Dysregulated BMP signaling and enhanced osteogenic differentiation of connective tissue progenitor cells from patients with fibrodysplasia ossificans progressiva (FOP). (17967130)
2008
26
HSPG modulation of BMP signaling in fibrodysplasia ossificans progressiva cells. (17516498)
2007
27
Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP). (18019378)
2007
28
A new era for fibrodysplasia ossificans progressiva: a druggable target for the second skeleton. (17477807)
2007
29
Optimal treatment of fibrodysplasia ossificans progressiva with surgical excision of heterotopic bone, indomethacin, and irradiation. (16919202)
2006
30
De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva. (17077940)
2006
31
Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. (16230464)
2005
32
Anesthetic management in fibrodysplasia ossificans progressiva (FOP): a case report. (12770658)
2003
33
Fibrodysplasia ossificans progressiva (FOP). (12951384)
2003
34
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
35
Fibrodysplasia ossificans progressiva and corneal keloid. (12352096)
2002
36
Question: Bone marrow transplant for fibrodysplasia ossificans progressiva: has the hour arrived? (11716421)
2001
37
Familial fibrodysplasia ossificans progressiva: trial with etidronate disodium. (11721075)
2001
38
A 3 year old girl with fibrodysplasia ossificans progressiva. (10646326)
1999
39
Conductive hearing loss in individuals with fibrodysplasia ossificans progressiva. (10499116)
1999
40
The stone man: myositis (fibrodysplasia) ossificans progressiva. (9510591)
1998
41
Mechanism for superior subluxation of the glenohumeral joint in fibrodysplasia ossificans progressiva. (9577420)
1998
42
Fibrodysplasia ossificans progressiva why do some people have two skeletons? (19078161)
1997
43
Fibrodysplasia ossificans progressiva -- lessons from rare maladies. (8678940)
1996
44
A remarkable transport device for a fibrodysplasia ossificans progressiva patient. (1584646)
1992
45
General anesthesia and fibrodysplasia ossificans progressiva. (2913851)
1989
46
Fibrodysplasia ossificans progressiva. (4045897)
1985
47
Radiological case of the month: fibrodysplasia ossificans progressiva. (6847962)
1983
48
Fibrodysplasia ossificans progressiva. (6981979)
1982
49
Elevated prostaglandin production in cultured cells from a patient with fibrodysplasia ossificans progressiva. (415337)
1978
50
Histochemical and ultrastructural studies in fibrodysplasia ossificans progressiva (myositis ossificans progressiva). (141214)
1977

Variations for Fibrodysplasia Ossificans Progressiva

About this section

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

69
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)SNVPathogenicrs121912678GRCh37Chr 2, 158630626: 158630626
2ACVR1NM_001105.4(ACVR1): c.1067G> A (p.Gly356Asp)SNVPathogenicrs121912679GRCh37Chr 2, 158617589: 158617589
3ACVR1NM_001105.4(ACVR1): c.774G> C (p.Arg258Ser)SNVPathogenicrs121912680GRCh37Chr 2, 158626896: 158626896
4ACVR1NM_001105.4(ACVR1): c.587T> C (p.Leu196Pro)SNVPathogenicrs797045135GRCh37Chr 2, 158630656: 158630656
5ACVR1NM_001105.4(ACVR1): c.772A> G (p.Arg258Gly)SNVLikely pathogenicrs863224846GRCh38Chr 2, 157770386: 157770386
6ACVR1NM_001105.4(ACVR1): c.982G> A (p.Gly328Arg)SNVPathogenicrs387906588GRCh37Chr 2, 158622517: 158622517
7ACVR1NM_001105.4(ACVR1): c.982G> T (p.Gly328Trp)SNVPathogenicrs387906588GRCh37Chr 2, 158622517: 158622517
8ACVR1NM_001105.4(ACVR1): c.983G> A (p.Gly328Glu)SNVPathogenicrs387906589GRCh37Chr 2, 158622516: 158622516
9ACVR1NM_001105.4(ACVR1): c.1124G> C (p.Arg375Pro)SNVPathogenicrs387906590GRCh37Chr 2, 158617532: 158617532
10ACVR1NM_001105.4(ACVR1): c.605G> T (p.Arg202Ile)SNVPathogenicrs387906591GRCh37Chr 2, 158630638: 158630638

Expression for genes affiliated with Fibrodysplasia Ossificans Progressiva

About this section
Search GEO for disease gene expression data for Fibrodysplasia Ossificans Progressiva.

Pathways for genes affiliated with Fibrodysplasia Ossificans Progressiva

About this section

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

(show all 25)
idSuper pathwaysScoreTop Affiliating Genes
19.7BMP4, BMPR1A
29.7BMP4, BMPR1A
39.5FOS, TGFB1
49.5FOS, TGFB1
59.4ACVR1, BMP4, BMPR1A
69.3ACVR1, BMP4, TGFB1
79.1BMP1, BMP4, TGFB1
8
Show member pathways
8.9ACVR1, BMP4, BMPR1A, FOS
98.9FOS, MSX2, TGFB1
10
Show member pathways
8.8BMPR1A, NOG, SMAD7
11
Show member pathways
8.8ACVR1, SMAD7, TGFB1
128.8BMP4, BMPR1A, NOG, TGFB1
138.7FOS, SMAD7, TGFB1
148.7FOS, SMAD7, TGFB1
158.7BMP1, BMP4, NOG, TGFB1
168.7BMP1, BMP4, FOS, TGFB1
17
Show member pathways
8.7BMP1, BMP4, FOS, TGFB1
188.6BMP4, MSX2, NOG, TGFB1
19
Show member pathways
8.5ACVR1, BMP4, BMPR1A, NOG, TGFB1
208.3BMP4, BMPR1A, SMAD7, TGFB1
218.0BMP4, FOS, NOG, SMAD7, TGFB1
22
Show member pathways
7.9ACVR1, BMP1, BMP4, BMPR1A, FOS, TGFB1
23
Show member pathways
7.9ACVR1, BMP1, BMP4, BMPR1A, FOS, TGFB1
24
Show member pathways
7.9ACVR1, BMP1, BMP4, BMPR1A, FOS, TGFB1
25
Show member pathways
7.9BMP1, BMP4, FOS, SMAD7, TGFB1

GO Terms for genes affiliated with Fibrodysplasia Ossificans Progressiva

About this section

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

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.1BMP1, BMP4, TGFB1

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1lung morphogenesisGO:006042510.4BMP4, NOG
2endocardial cushion morphogenesisGO:000320310.4ACVR1, BMPR1A
3embryonic skeletal joint morphogenesisGO:006027210.3BMP4, NOG
4cardiac right ventricle morphogenesisGO:000321510.3BMP4, BMPR1A
5pharyngeal arch artery morphogenesisGO:006162610.3BMP4, BMPR1A
6smooth muscle cell differentiationGO:005114510.3ACVR1, BMP4
7embryonic morphogenesisGO:004859810.3BMP4, BMPR1A
8positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.3NOG, TGFB1
9common-partner SMAD protein phosphorylationGO:000718210.3BMP4, TGFB1
10regulation of cartilage developmentGO:006103510.3BMP4, TGFB1
11regulation of protein import into nucleusGO:004230610.3BMP4, TGFB1
12mitral valve morphogenesisGO:000318310.2ACVR1, BMPR1A
13positive regulation of collagen biosynthetic processGO:003296710.2BMP4, TGFB1
14cranial suture morphogenesisGO:006036310.2BMP4, MSX2
15epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.2BMP4, MSX2
16anatomical structure formation involved in morphogenesisGO:004864610.1BMP4, NOG
17positive regulation of cartilage developmentGO:006103610.1BMP1, BMP4
18frontal suture morphogenesisGO:006036410.0MSX2, TGFB1
19negative regulation of myoblast differentiationGO:00456629.9BMP4, TGFB1
20pituitary gland developmentGO:00219839.9BMP4, BMPR1A, NOG
21response to laminar fluid shear stressGO:00346169.8SMAD7, TGFB1
22BMP signaling pathway involved in heart developmentGO:00613129.8ACVR1, BMP4, MSX2
23negative regulation of pathway-restricted SMAD protein phosphorylationGO:00603949.7NOG, SMAD7
24positive regulation of SMAD protein import into nucleusGO:00603919.7BMP4, BMPR1A, TGFB1
25chondrocyte differentiationGO:00020629.7BMP4, BMPR1A, TGFB1
26regulation of transforming growth factor beta receptor signaling pathwayGO:00170159.6SMAD7, TGFB1
27skeletal system developmentGO:00015019.5BMP1, BMP4, NOG
28negative regulation of gene expressionGO:00106299.5BMP4, NOG, TGFB1
29outflow tract morphogenesisGO:00031519.5BMP4, BMPR1A, MSX2
30cartilage developmentGO:00512169.5BMPR1A, MSX2, NOG
31positive regulation of bone mineralizationGO:00305019.5ACVR1, BMP4, BMPR1A, TGFB1
32pathway-restricted SMAD protein phosphorylationGO:00603899.5ACVR1, SMAD7, TGFB1
33cellular response to growth factor stimulusGO:00713639.5BMP4, MSX2, TGFB1
34mesoderm formationGO:00017079.4ACVR1, BMP4, BMPR1A, NOG
35osteoblast differentiationGO:00016499.4BMP4, MSX2, NOG
36positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:19028959.4BMP4, BMPR1A, FOS, TGFB1
37outflow tract septum morphogenesisGO:00031489.4ACVR1, BMP4, BMPR1A, MSX2
38cellular response to BMP stimulusGO:00717739.4ACVR1, BMP4, BMPR1A, NOG
39SMAD protein signal transductionGO:00603959.3BMP1, BMP4, FOS, TGFB1
40positive regulation of osteoblast differentiationGO:00456699.2ACVR1, BMP4, BMPR1A, MSX2
41embryonic digit morphogenesisGO:00427339.2BMP4, BMPR1A, MSX2, NOG
42positive regulation of epithelial cell proliferationGO:00506799.2BMP4, BMPR1A, NOG, TGFB1
43ureteric bud developmentGO:00016578.9BMP4, NOG, SMAD7, TGFB1
44positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108628.8ACVR1, BMP1, BMP4, BMPR1A, TGFB1
45wound healingGO:00420608.8BMP4, MSX2, NOG, TGFB1
46positive regulation of transcription, DNA-templatedGO:00458938.7ACVR1, BMP4, BMPR1A, FOS, TGFB1
47transforming growth factor beta receptor signaling pathwayGO:00071798.5ACVR1, BMPR1A, FOS, SMAD7, TGFB1
48negative regulation of transcription from RNA polymerase II promoterGO:00001227.5BMP4, MSX2, NOG, SMAD7, TGFB1
49BMP signaling pathwayGO:00305097.4ACVR1, BMP1, BMP4, BMPR1A, MSX2, NOG
50positive regulation of transcription from RNA polymerase II promoterGO:00459447.2ACVR1, BMP4, BMPR1A, FOS, NOG, SMAD7

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase activityGO:000467510.3ACVR1, BMPR1A
2activin bindingGO:004818510.0ACVR1, SMAD7
3transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00009829.8FOS, MSX2
4type I transforming growth factor beta receptor bindingGO:00347139.8SMAD7, TGFB1
5transforming growth factor beta receptor bindingGO:00051609.7BMP1, BMP4, TGFB1
6cytokine activityGO:00051259.5BMP1, BMP4, TGFB1
7growth factor activityGO:00080839.5BMP1, BMP4, TGFB1
8transcription regulatory region DNA bindingGO:00442128.8FOS, MSX2, SMAD7
9protein homodimerization activityGO:00428038.5ACVR1, BMP4, BMPR1A, NOG, TGFB1

Sources for Fibrodysplasia Ossificans Progressiva

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet