MCID: FBR011
MIFTS: 60

Fibrodysplasia Ossificans Progressiva malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Fibrodysplasia Ossificans Progressiva

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 29ICD9CM, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Fibrodysplasia Ossificans Progressiva:

Name: Fibrodysplasia Ossificans Progressiva 49 10 11 45 22 23 47 12 51 65 67
Myositis Ossificans 45 23 65 36 67
Progressive Myositis Ossificans 10 45 23 24
Myositis Ossificans Progressiva 10 45 23 51
Progressive Ossifying Myositis 10 45 23
 
Fop 45 51 67
Stone Man Syndrome 10 51
Myositis Ossificans Progressive 67
Man of Stone 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

OMIM49 135100
Disease Ontology10 DOID:13374
NCIt42 C3040
MeSH36 D009221
ICD9CM29 728.11
Orphanet51 337
ICD10 via Orphanet28 M61.1
MESH via Orphanet37 D009221
UMLS via Orphanet66 C0016037
ICD1027 M61.1
MedGen34 C0016037

Summaries for Fibrodysplasia Ossificans Progressiva

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NIH Rare Diseases:45 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 myositis and myositis ossificans, 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 I), and among its related pathways are ALK1 signaling events and Heart Development. Affiliated tissues include bone, skeletal muscle and skin, and related mouse phenotypes are tumorigenesis and hearing/vestibular/ear.

Disease Ontology:10 .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:23 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:49 Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving... (135100) more...

UniProtKB/Swiss-Prot:67 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.

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:

 51 (show all 21)
  • anomalies of spine, vertebrae and pelvis
  • rigid spine
  • big toe anomaly (excluding absence)
  • short big toe
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • muscle ossification
  • anomalies of cartilages, joints and periarticular tissue
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • hearing loss/hypoacusia/deafness
  • clinodactyly of fifth finger
  • thumb hypoplasia/aplasia/absence
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • glaucoma
  • hallux valgus
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • synostosis
  • anaemia
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Fibrodysplasia Ossificans Progressiva:

(show all 33)
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 autosomal dominant inheritance HP:0000006
15 conductive hearing impairment HP:0000405
16 sensorineural hearing impairment HP:0000407
17 widely spaced teeth HP:0000687
18 alopecia HP:0001596
19 hallux valgus HP:0001822
20 respiratory insufficiency HP:0002093
21 scoliosis HP:0002650
22 respiratory failure HP:0002878
23 metaphyseal widening HP:0003016
24 clinodactyly of the 5th finger HP:0004209
25 small cervical vertebral bodies HP:0004629
26 broad femoral neck HP:0006429
27 progressive cervical vertebral spine fusion HP:0008449
28 short 1st metacarpal HP:0010034
29 abnormality of the first metatarsal bone HP:0010054
30 short hallux HP:0010109
31 ectopic ossification in muscle tissue HP:0011987
32 ectopic ossification in tendon tissue HP:0011988
33 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
Tretinoinapproved, investigational, nutraceuticalPhase 2200302-79-45538, 444795, 444795, 5538
Synonyms:
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
(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-nonatetraenoate
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
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)
Acide retinoique (French) (DSL)
Acide retinoique (french) (dsl)
Acnavit
Acnavit [Denmark]
Airol
Aknefug
Aknoten
Alitretinoin
All Trans Retinoic Acid
All Trans-Retinoic Acid
All-(E)-Retinoate
All-(E)-Retinoic acid
All-trans Retinoic Acid
All-trans-Retinoate
All-trans-Retinoic acid
All-trans-Tretinoin
All-trans-Vitamin A acid
All-trans-Vitamin A1 acid
Alltrans-retinoic acid
Amnesteem
Atra-IV
Atragen
Atralin
Avita
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
Obagi
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
Refissa
Renova
Renova (TN)
Retacnyl
Retin A
Retin A (TN)
Retin-A
Retin-A Micro
Retin-a
Retin-a Micro
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
Tretin-x
Tretin.x
Tretinoin
Tretinoin (JAN/USP/INN)
Tretinoin (TN)
Tretinoin 0.1% cream or placebo
Tretinoin Cream
Tretinoin Gel Microsphere
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)
Tretinoine (french) (einecs)
Tretinoine [INN-French]
Tretinoino
Tretinoino [INN-Spanish]
Tretinoinum
Tretinoinum [INN-Latin]
Tretinx
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-Retinoate
beta-Retinoic Acid
beta-Retinoic acid
beta-all-trans-Retinoic acid
bmse000562
nchembio.154-comp2
trans Retinoic Acid
trans-Retinoate
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 SubjectsRecruitingNCT02190747Phase 2
4Urine Sample Collection From FOP PatientsCompletedNCT02066324
5A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP)RecruitingNCT02322255
6Discovering the Gene(s) Causing Developmental Dysplasia of the Hip (DDH)Enrolling by invitationNCT01193673

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 Fibrodysplasia Ossificans Progressiva22 ACVR1
2 Progressive Myositis Ossificans24

Anatomical Context for Fibrodysplasia Ossificans Progressiva

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MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

33
Bone, Skeletal muscle, Skin, Lung, 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:

38 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6ACVR1, BMPR1A, FOS, ID3
2MP:00053778.3ACVR1, BMP4, BMPR1A, FOS, MSX2, NOG
3MP:00053718.3ACVR1, BMP4, BMPR1A, FOS, MSX2, NOG
4MP:00053698.1ACVR1, BMP4, BMPR1A, MSX2, NOG, SMAD7
5MP:00053817.9ACVR1, BMP1, BMP4, ID3, MSX2, NOG
6MP:00107717.9BMP4, BMPR1A, FOS, MSX2, NOG, SMAD7
7MP:00053827.9ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
8MP:00053867.8ACVR1, BMP4, BMPR1A, FOS, MSX2, SMAD7
9MP:00028737.8BMP4, BMPR1A, FOS, ID3, MSX2, NOG
10MP:00053917.6BMP4, BMPR1A, FOS, ID3, MSX2, NOG
11MP:00053847.5ACVR1, BMP4, BMPR1A, FOS, ID3, NOG
12MP:00053797.4BMP4, BMPR1A, FOS, ID3, MSX2, NOG
13MP:00053877.3ACVR1, BMPR1A, FOS, ID3, MSX2, SMAD7
14MP:00053897.2BMP4, BMPR1A, FOS, ID3, NOG, SMAD7
15MP:00053977.1BMP4, BMPR1A, FOS, ID3, MSX2, SMAD7
16MP:00036317.1ACVR1, BMP4, BMPR1A, FOS, ID3, MSX2
17MP:00053907.1ACVR1, BMP1, BMP4, BMPR1A, FOS, ID3
18MP:00053806.9ACVR1, BMP1, BMP4, BMPR1A, FOS, ID3
19MP:00053856.8ACVR1, BMP1, BMP4, BMPR1A, ID3, MSX2
20MP:00107686.3ACVR1, BMP1, BMP4, BMPR1A, FOS, ID3
21MP:00053786.3ACVR1, 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 317)
idTitleAuthorsYear
1
Fibrodysplasia Ossificans Progressiva. (26267714)
2015
2
Fibrodysplasia ossificans progressiva misdiagnosed as cervical exostosis. (25832962)
2015
3
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant. (24852373)
2014
4
Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trial. (24131551)
2013
5
Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. (20349070)
2012
6
Fibrodysplasia ossificans progressiva: a human genetic disorder of extraskeletal bone formation, or--how does one tissue become another? (22408652)
2012
7
Surgical treatment combined with NSAIDs in fibrodysplasia ossificans progressiva. (21959193)
2012
8
The danger of biopsy in fibrodysplasia ossificans progressiva. (22447993)
2012
9
Fibrodysplasia ossificans progressiva: anesthetic management in complex orthopedic spine procedures. (22050800)
2011
10
A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date. (21044902)
2011
11
ALK2 R206H mutation linked to fibrodysplasia ossificans progressiva confers constitutive activity to the BMP type I receptor and sensitizes mesenchymal cells to BMP-induced osteoblast differentiation and bone formation. (19929436)
2010
12
Fibrodysplasia ossificans progressiva (FOP): watch the great toes! (20577760)
2010
13
Osteochondral diseases and fibrodysplasia ossificans progressiva. (20824454)
2010
14
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. (18684712)
2009
15
Fibrodysplasia ossificans progressiva in a Maine Coon cat with prominent ossification in dorsal muscle. (20046034)
2009
16
Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients. (19400542)
2009
17
Submandibular space swelling in a patient with fibrodysplasia ossificans progressiva: a diagnostic dilemma. (19231799)
2009
18
When one skeleton is enough: approaches and strategies for the treatment of fibrodysplasia ossificans progressiva (FOP). (23599718)
2008
19
Lumbar puncture and surgical intervention in a child with undiagnosed fibrodysplasia ossificans progressiva. (18352811)
2008
20
Radiotherapy for management of skin cancers in fibrodysplasia ossificans progressiva: a case report and review of the literature. (18417900)
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
HSPG modulation of BMP signaling in fibrodysplasia ossificans progressiva cells. (17516498)
2007
24
Radiologic findings in seven patients with fibrodysplasia ossificans progressiva. (17198460)
2007
25
Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP). (18019378)
2007
26
Optimal treatment of fibrodysplasia ossificans progressiva with surgical excision of heterotopic bone, indomethacin, and irradiation. (16919202)
2006
27
Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA. (15940369)
2005
28
Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. (16230464)
2005
29
Anesthetic management in fibrodysplasia ossificans progressiva (FOP): a case report. (12770658)
2003
30
Fibrodysplasia ossificans progressiva and corneal keloid. (12352096)
2002
31
Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva. (11977169)
2002
32
Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. (11503156)
2001
33
Question: Bone marrow transplant for fibrodysplasia ossificans progressiva: has the hour arrived? (11716421)
2001
34
Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. (10631143)
2000
35
Unusual ankylosis of the jaw due to fibrodysplasia ossificans progressiva. (10560885)
1999
36
A 3 year old girl with fibrodysplasia ossificans progressiva. (10646326)
1999
37
The stone man: myositis (fibrodysplasia) ossificans progressiva. (9510591)
1998
38
Fibrodysplasia ossificans progressiva why do some people have two skeletons? (19078161)
1997
39
Fibrodysplasia ossificans progressiva -- lessons from rare maladies. (8678940)
1996
40
Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. (8678932)
1996
41
Ultrastructural finding of vascular degeneration in fibrodysplasia ossificans progressiva (FOP). (7776264)
1995
42
Radiographic and scintigraphic features of modeling and remodeling in the heterotopic skeleton of patients who have fibrodysplasia ossificans progressiva. (8020223)
1994
43
A remarkable transport device for a fibrodysplasia ossificans progressiva patient. (1584646)
1992
44
MR imaging of early fibrodysplasia ossificans progressiva. (2312870)
1990
45
Fibrodysplasia ossificans progressiva. An 11-year-old boy treated with a diphosphonate. (2124774)
1990
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
Fibrodysplasia ossificans progressiva (FOP) treated with diphosphonate. (4218791)
1974

Variations for Fibrodysplasia Ossificans Progressiva

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

67
id Symbol AA change Variation ID SNP ID
1ACVR1p.Arg206HisVAR_028444
2ACVR1p.Arg202IleVAR_058419
3ACVR1p.Gln207GluVAR_058420
4ACVR1p.Gly328GluVAR_058421
5ACVR1p.Gly328ArgVAR_058422
6ACVR1p.Gly328TrpVAR_058423
7ACVR1p.Gly356AspVAR_058424
8ACVR1p.Arg375ProVAR_058425

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 pathogenicGRCh37Chr 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 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6ACVR1, SMAD7
29.6BMP4, BMPR1A
39.6BMP4, BMPR1A
49.3BMP1, BMP4, NOG
59.1BMP4, BMPR1A, SMAD7
6
Show member pathways
9.1BMPR1A, NOG, SMAD7
79.0ACVR1, BMP4, ID3
8
TGF-beta Signaling Pathway (sino)
Show member pathways
8.9ACVR1, BMP4, ID3
98.9BMP1, BMP4, ID3
108.8BMP4, FOS, NOG, SMAD7
118.7BMP1, BMP4, FOS, SMAD7
128.5ACVR1, BMP4, BMPR1A, ID3
13
Show member pathways
8.4ACVR1, BMP1, BMP4, BMPR1A, FOS
14
Show member pathways
8.4ACVR1, BMP1, BMP4, BMPR1A, FOS
15
Show member pathways
8.4ACVR1, BMP4, BMPR1A, NOG, SMAD7
16
Show member pathways
8.4ACVR1, BMP4, BMPR1A, FOS, SMAD7
17
TGF-beta signaling pathway (KEGG)
Show member pathways
7.6ACVR1, BMP4, BMPR1A, FOS, 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:00319889.7BMP1, BMP4

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1smooth muscle cell differentiationGO:005114510.4ACVR1, BMP4
2lung morphogenesisGO:006042510.4BMP4, NOG
3anatomical structure formation involved in morphogenesisGO:004864610.3BMP4, NOG
4negative regulation of pathway-restricted SMAD protein phosphorylationGO:006039410.3NOG, SMAD7
5positive regulation of SMAD protein import into nucleusGO:006039110.3BMP4, BMPR1A
6embryonic morphogenesisGO:004859810.3BMP4, BMPR1A
7cranial suture morphogenesisGO:006036310.3BMP4, MSX2
8germ cell developmentGO:000728110.2ACVR1, BMP4
9SMAD protein signal transductionGO:006039510.2BMP4, FOS
10pathway-restricted SMAD protein phosphorylationGO:006038910.2ACVR1, SMAD7
11dorsal/ventral pattern formationGO:000995310.2BMPR1A, NOG
12signal transduction by protein phosphorylationGO:002301410.2ACVR1, BMPR1A
13embryonic skeletal system developmentGO:004870610.2BMP4, NOG
14positive regulation of cartilage developmentGO:006103610.1BMP1, BMP4
15pattern specification processGO:000738910.1BMPR1A, NOG
16negative regulation of BMP signaling pathwayGO:003051410.1NOG, SMAD7
17embryonic hindlimb morphogenesisGO:003511610.0BMP4, MSX2
18odontogenesis of dentin-containing toothGO:004247510.0BMP4, BMPR1A
19positive regulation of BMP signaling pathwayGO:003051310.0BMP4, MSX2
20embryonic limb morphogenesisGO:003032610.0BMP4, MSX2
21embryonic skeletal joint morphogenesisGO:00602729.9BMP4, NOG
22positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.9ACVR1, BMP4, BMPR1A
23positive regulation of bone mineralizationGO:00305019.8ACVR1, BMP4, BMPR1A
24cellular response to growth factor stimulusGO:00713639.8BMP4, MSX2
25metanephros developmentGO:00016569.8BMP4, ID3
26chondrocyte differentiationGO:00020629.8BMP4, BMPR1A
27positive regulation of epithelial cell proliferationGO:00506799.8BMP4, BMPR1A, NOG
28negative regulation of osteoblast differentiationGO:00456689.8ID3, NOG
29negative regulation of myoblast differentiationGO:00456629.8BMP4, ID3
30pituitary gland developmentGO:00219839.8BMP4, BMPR1A, NOG
31ureteric bud developmentGO:00016579.7BMP4, NOG, SMAD7
32in utero embryonic developmentGO:00017019.7ACVR1, BMPR1A, NOG
33osteoblast differentiationGO:00016499.5BMP4, MSX2, NOG
34mesoderm formationGO:00017079.5ACVR1, BMP4, BMPR1A, NOG
35nervous system developmentGO:00073999.4BMPR1A, FOS, NOG
36skeletal system developmentGO:00015019.4BMP1, BMP4, NOG
37odontogenesisGO:00424769.3BMP4, ID3, MSX2
38positive regulation of transcription, DNA-templatedGO:00458939.3ACVR1, BMP4, BMPR1A, FOS
39cartilage developmentGO:00512169.2BMPR1A, MSX2, NOG
40positive regulation of osteoblast differentiationGO:00456699.1ACVR1, BMP4, BMPR1A, MSX2
41embryonic digit morphogenesisGO:00427339.1BMP4, BMPR1A, MSX2, NOG
42positive regulation of apoptotic processGO:00430659.1BMP4, ID3, MSX2
43cellular response to BMP stimulusGO:00717739.1ACVR1, BMP4, BMPR1A, NOG
44wound healingGO:00420609.0BMP4, MSX2, NOG
45transforming growth factor beta receptor signaling pathwayGO:00071798.8ACVR1, BMPR1A, FOS, SMAD7
46heart developmentGO:00075078.5ACVR1, BMP4, BMPR1A, ID3
47BMP signaling pathwayGO:00305098.1ACVR1, BMP4, BMPR1A, MSX2, NOG, SMAD7
48positive regulation of transcription from RNA polymerase II promoterGO:00459448.0ACVR1, BMP4, BMPR1A, FOS, NOG, SMAD7
49negative regulation of transcription from RNA polymerase II promoterGO:00001227.5BMP4, ID3, MSX2, NOG, SMAD7

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:004818510.3ACVR1, SMAD7
2transmembrane receptor protein serine/threonine kinase activityGO:000467510.1ACVR1, BMPR1A
3receptor signaling protein serine/threonine kinase activityGO:000470210.1ACVR1, BMPR1A
4transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00009829.8FOS, MSX2
5SMAD bindingGO:00463329.5ACVR1, BMPR1A
6transcription regulatory region DNA bindingGO:00442129.2FOS, MSX2, SMAD7
7protein homodimerization activityGO:00428038.9ACVR1, BMP4, BMPR1A, NOG
8transcription factor bindingGO:00081348.7FOS, ID3, MSX2

Sources for Fibrodysplasia Ossificans Progressiva

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet