FOP
MCID: FBR011
MIFTS: 62

Fibrodysplasia Ossificans Progressiva (FOP) malady

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

Aliases & Classifications for Fibrodysplasia Ossificans Progressiva

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Fibrodysplasia Ossificans Progressiva:

Name: Fibrodysplasia Ossificans Progressiva 52 11 48 24 25 54 70 12 50 13 68
Myositis Ossificans 48 25 70 39 68
Myositis Ossificans Progressiva 11 48 25 54
Progressive Myositis Ossificans 11 48 25
Progressive Ossifying Myositis 11 48 25
 
Fop 48 54 70
Myositis Ossificans Progressive 70 27
Stone Man Syndrome 11 54
Man of Stone 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
fibrodysplasia ossificans progressiva:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 135100
Disease Ontology11 DOID:13374
ICD1030 M61.1, M61.10
ICD9CM32 728.11
MeSH39 D009221
NCIt45 C3040
Orphanet54 ORPHA337
MESH via Orphanet40 D009221
ICD10 via Orphanet31 M61.1
UMLS via Orphanet69 C0016037
MedGen37 C0016037

Summaries for Fibrodysplasia Ossificans Progressiva

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NIH Rare Diseases:48 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 Array, Array and Array. 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 vision/eye.

UniProtKB/Swiss-Prot:70 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.

OMIM:52 Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving... (135100) more...

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.

Wikipedia:71 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 & Phenotypes for Fibrodysplasia Ossificans Progressiva

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Symptoms by clinical synopsis from OMIM:

135100

Clinical features from OMIM:

135100

Human phenotypes related to Fibrodysplasia Ossificans Progressiva:

 54 64 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment64 54 Frequent (79-30%) HP:0000365
2 glaucoma64 54 Occasional (29-5%) HP:0000501
3 intellectual disability64 54 Occasional (29-5%) HP:0001249
4 seizures64 54 Occasional (29-5%) HP:0001250
5 limitation of joint mobility64 54 Very frequent (99-80%) HP:0001376
6 subcutaneous nodule64 54 Very frequent (99-80%) HP:0001482
7 failure to thrive64 54 Occasional (29-5%) HP:0001508
8 alopecia64 54 Frequent (79-30%) HP:0001596
9 hallux valgus64 54 Occasional (29-5%) HP:0001822
10 anemia64 54 Occasional (29-5%) HP:0001903
11 respiratory insufficiency64 54 Frequent (79-30%) HP:0002093
12 spinal rigidity64 54 Very frequent (99-80%) HP:0003306
13 abnormality of the vertebrae64 54 Very frequent (99-80%) HP:0003468
14 clinodactyly of the 5th finger64 54 Frequent (79-30%) HP:0004209
15 abnormality of the first metatarsal bone64 54 Very frequent (99-80%) HP:0010054
16 aplasia/hypoplasia of the phalanges of the hallux64 54 Frequent (79-30%) HP:0010058
17 short hallux64 54 Very frequent (99-80%) HP:0010109
18 ectopic ossification in muscle tissue64 54 Very frequent (99-80%) HP:0011987
19 ectopic ossification in ligament tissue64 54 Very frequent (99-80%) HP:0011989
20 synostosis of joints64 54 Occasional (29-5%) HP:0100240
21 conductive hearing impairment64 HP:0000405
22 sensorineural hearing impairment64 HP:0000407
23 widely spaced teeth64 HP:0000687
24 scoliosis64 HP:0002650
25 respiratory failure64 HP:0002878
26 metaphyseal widening64 HP:0003016
27 small cervical vertebral bodies64 HP:0004629
28 broad femoral neck64 HP:0006429
29 progressive cervical vertebral spine fusion64 HP:0008449
30 short 1st metacarpal64 HP:0010034
31 ectopic ossification in tendon tissue64 HP:0011988

MGI Mouse Phenotypes related to Fibrodysplasia Ossificans Progressiva according to GeneCards Suite gene sharing:

41 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.4ACVR1, BMP4, BMPR1A, FOS, MSX2, NOG
2MP:00053918.1BMP4, BMPR1A, FOS, MSX2, NOG, TGFB1
3MP:00053898.0BMP4, BMPR1A, FOS, NOG, SMAD7, TGFB1
4MP:00053717.7ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
5MP:00028737.7BMP4, BMPR1A, FOS, MSX2, NOG, SMAD7
6MP:00053847.5ACVR1, BMP4, BMPR1A, FOS, NOG, SMAD7
7MP:00036317.4ACVR1, BMP4, BMPR1A, FOS, MSX2, NOG
8MP:00053867.3ACVR1, BMP4, BMPR1A, FOS, MSX2, SMAD7
9MP:00053907.2ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
10MP:00053817.0ACVR1, BMP1, BMP4, MSX2, NOG, SMAD7
11MP:00053767.0ACVR1, BMP1, BMP4, BMPR1A, FOS, NOG
12MP:00053877.0ACVR1, BMP1, BMPR1A, FOS, MSX2, SMAD7
13MP:00053796.9BMP4, BMPR1A, FOS, MSX2, NOG, SMAD7
14MP:00107716.8BMP4, BMPR1A, FOS, MSX2, NOG, SMAD7
15MP:00053696.6ACVR1, BMP1, BMP4, BMPR1A, MSX2, NOG
16MP:00053826.6ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
17MP:00053856.6ACVR1, BMP1, BMP4, BMPR1A, MSX2, NOG
18MP:00053806.5ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
19MP:00053976.5BMP1, BMP4, BMPR1A, FOS, MSX2, SMAD7
20MP:00107686.3ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
21MP:00053786.3ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2

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 2228302-79-45538
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 SubjectsActive, not recruitingNCT02279095Phase 2
2An Efficacy and Safety Study of Palovarotene to Treat Preosseous Flare-ups in FOP SubjectsActive, not recruitingNCT02190747Phase 2
3An Open-Label Extension Study of Palovarotene to Prevent Heterotopic Ossification in FOP Subjects in FranceActive, not recruitingNCT02979769Phase 2
4In-Home Evaluation of Episodic Administration of Palovarotene in Fibrodysplasia Ossificans Progressiva (FOP) SubjectsSuspendedNCT02521792Phase 2
5Urine Sample Collection From FOP PatientsCompletedNCT02066324
6The Fibrodysplasia Ossificans Progressiva (FOP) Connection RegistryRecruitingNCT02745158
7A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP)Active, not recruitingNCT02322255
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

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Genetic tests related to Fibrodysplasia Ossificans Progressiva:

id Genetic test Affiliating Genes
1 Progressive Myositis Ossificans27
2 Fibrodysplasia Ossificans Progressiva24 ACVR1

Anatomical Context for Fibrodysplasia Ossificans Progressiva

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MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

36
Bone, Skeletal muscle, Skin, Endothelial, Smooth muscle, Bone marrow

Publications for Fibrodysplasia Ossificans Progressiva

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Articles related to Fibrodysplasia Ossificans Progressiva:

(show top 50)    (show all 353)
idTitleAuthorsYear
1
Trace element and cytokine concentrations in patients with Fibrodysplasia Ossificans Progressiva (FOP): A case control study. (27908413)
2017
2
The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response. (27713089)
2017
3
A cumulative analogue joint involvement scale (CAJIS) for fibrodysplasia ossificans progressiva (FOP). (28465250)
2017
4
A Zebrafish Model of Human Fibrodysplasia Ossificans Progressiva. (28394244)
2017
5
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
6
The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A close call. (28473268)
2017
7
Fibrodysplasia ossificans progressiva: initial presentation with a preosseous lesion of the scalp and its MRI appearance. (27003387)
2016
8
A Door Opens for Fibrodysplasia Ossificans Progressiva. (26654278)
2016
9
The ACVR1 R206H mutation found in fibrodysplasia ossificans progressiva increases human induced pluripotent stem cell-derived endothelial cell formation and collagen production through BMP-mediated SMAD1/5/8 signaling. (27530160)
2016
10
Fibrodysplasia ossificans progressiva. A case report and focus on the BMP signaling pathway. (26948676)
2016
11
High throughput screening for modulators of ACVR1 transcription potentially applicable to the treatment of Fibrodysplasia Ossificans Progressiva. (27125279)
2016
12
Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva. (27492340)
2016
13
Palovarotene Inhibits Heterotopic Ossification and Maintains Limb Mobility and Growth in Mice With the Human ACVR1(R206H) Fibrodysplasia Ossificans Progressiva (FOP) Mutation. (26896819)
2016
14
Correction: High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva. (27604694)
2016
15
Fibrodysplasia Ossificans Progressiva. (26876407)
2016
16
Early Recognition of Fibrodysplasia Ossificans Progressiva-Important For the Clinician. (27935932)
2016
17
Analog Method for Radiographic Assessment of Heterotopic Bone in Fibrodysplasia Ossificans Progressiva. (27989444)
2016
18
The Diversity of the Clinical Phenotypes in Patients With Fibrodysplasia Ossificans Progressiva. (26858800)
2016
19
Towards a cure for Fibrodysplasia ossificans progressiva. (27867996)
2016
20
Generation of integration free induced pluripotent stem cells from fibrodysplasia ossificans progressiva (FOP) patients from urine samples. (27345784)
2016
21
ACVR1-Fc suppresses BMP signaling and chondro-osseous differentiation in an in vitro model of Fibrodysplasia ossificans progressiva. (27492611)
2016
22
The Natural History of Flare-Ups in Fibrodysplasia Ossificans Progressiva (FOP): A Comprehensive Global Assessment. (27025942)
2016
23
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva. (27565519)
2016
24
Inhibition of TGFI^ signaling decreases osteogenic differentiation of fibrodysplasia ossificans progressiva fibroblasts in a novel in vitro model of the disease. (26769004)
2016
25
A case of fibrodysplasia ossificans progressiva: 20 years of follow-up. (26954827)
2016
26
Fibrodysplasia ossificans progressiva: Case report of a terminal patient. (27282280)
2016
27
Development of New Therapeutic Agents for Fibrodysplasia Ossificans Progressiva. (26695699)
2016
28
Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review. (26436010)
2015
29
ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A. (26333933)
2015
30
A Tumour for which Surgery will do more harm than good: A Case Report of Fibrodysplasia Ossificans Progressiva. (25875418)
2015
31
Neofunction of ACVR1 in fibrodysplasia ossificans progressiva. (26621707)
2015
32
Fibrodysplasia ossificans progressiva misdiagnosed as cervical exostosis. (25832962)
2015
33
Role of osteoclasts in heterotopic ossification enhanced by fibrodysplasia ossificans progressiva-related activin-like kinase 2 mutation in mice. (26204847)
2015
34
Classical and atypical Fibrodysplasia Ossificans Progressiva in India. (26058333)
2015
35
Fibrodysplasia Ossificans Progressiva. (26267714)
2015
36
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva. (25604857)
2015
37
Fibrodysplasia ossificans progressiva in a newborn with cardiac involvement. (25809395)
2015
38
Clinical and molecular characterisation of two siblings with fibrodysplasia ossificans progressiva, from the Colombian Pacific coast (South America). (26055602)
2015
39
Osteochondromas in fibrodysplasia ossificans progressiva: a widespread trait with a streaking but overlooked appearance when arising at femoral bone end. (26049728)
2015
40
New Protocol to Optimize iPS Cells for Genome Analysis of Fibrodysplasia Ossificans Progressiva. (25773749)
2015
41
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing. (25899773)
2015
42
Heterotopic ossification in fibrodysplasia ossificans progressiva. (25444017)
2015
43
A 'Y-shaped' soft tissue ossification in fibrodysplasia ossificans progressiva. (26634132)
2015
44
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients. (26097044)
2015
45
Induced Pluripotent Stem Cells to Model Human Fibrodysplasia Ossificans Progressiva. (26626181)
2015
46
Quality of life of patients with fibrodysplasia ossificans progressiva. (26564023)
2015
47
Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective. (26077615)
2015
48
Radiographic characteristics of the hand and cervical spine in fibrodysplasia ossificans progressiva. (25343126)
2014
49
General anesthesia for dental procedures in patients with fibrodysplasia ossificans progressiva: a review of 42 cases in 30 patients. (24361843)
2014
50
Fibrodysplasia ossificans progressiva: a case report. (26022598)
2014

Variations for Fibrodysplasia Ossificans Progressiva

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

70
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 pathogenicrs863224846GRCh37Chr 2, 158626898: 158626898
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)SNVPathogenic/ Likely pathogenicrs387906589GRCh37Chr 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

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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 29)
idSuper pathwaysScoreTop Affiliating Genes
19.7BMP4, BMPR1A
29.7BMP4, BMPR1A
39.5FOS, TGFB1
49.5FOS, TGFB1
59.4ACVR1, BMP4, BMPR1A
69.3ACVR1, BMP4, TGFB1
79.2BMP4, NOG, TGFB1
89.1BMP1, BMP4, TGFB1
9
Show member pathways
9.0BMP1, BMPR1A, TGFB1
10
Show member pathways
8.9ACVR1, BMP4, BMPR1A, FOS
118.9ACVR1, BMP4, BMPR1A, FOS
128.9FOS, MSX2, TGFB1
13
Show member pathways
8.8BMPR1A, NOG, SMAD7
14
Show member pathways
8.8ACVR1, SMAD7, TGFB1
158.8BMP4, BMPR1A, NOG, TGFB1
168.7FOS, SMAD7, TGFB1
17
Show member pathways
8.7FOS, SMAD7, TGFB1
188.7BMP1, BMP4, NOG, TGFB1
19
Show member pathways
8.7BMP1, BMP4, FOS, TGFB1
208.7BMP1, BMP4, FOS, TGFB1
218.6BMP4, MSX2, NOG, TGFB1
22
Show member pathways
8.5ACVR1, BMP4, BMPR1A, NOG, TGFB1
23
Show member pathways
8.5ACVR1, BMP4, BMPR1A, NOG, TGFB1
248.3BMP4, BMPR1A, SMAD7, TGFB1
25
Show member pathways
8.0BMP4, FOS, NOG, SMAD7, TGFB1
26
Show member pathways
7.9ACVR1, BMP1, BMP4, BMPR1A, FOS, TGFB1
27
Show member pathways
7.9ACVR1, BMP1, BMP4, BMPR1A, FOS, TGFB1
28
Show member pathways
7.9ACVR1, BMP1, BMP4, BMPR1A, FOS, TGFB1
29
Show member pathways
7.6ACVR1, BMP4, BMPR1A, NOG, SMAD7, TGFB1

GO Terms for genes affiliated with Fibrodysplasia Ossificans Progressiva

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

(show top 50)    (show all 78)
idNameGO IDScoreTop Affiliating Genes
1germ cell developmentGO:000728110.6ACVR1, BMP4
2negative regulation of extrinsic apoptotic signaling pathwayGO:200123710.6ACVR1, BMP4
3anatomical structure formation involved in morphogenesisGO:004864610.6BMP4, NOG
4embryonic skeletal joint morphogenesisGO:006027210.5BMP4, NOG
5embryonic skeletal system developmentGO:004870610.5BMP4, NOG
6lung morphogenesisGO:006042510.5BMP4, NOG
7membranous septum morphogenesisGO:000314910.5BMP4, NOG
8mitral valve morphogenesisGO:000318310.5ACVR1, BMPR1A
9cardiac right ventricle morphogenesisGO:000321510.5BMP4, BMPR1A
10embryonic morphogenesisGO:004859810.5BMP4, BMPR1A
11dorsal/ventral pattern formationGO:000995310.4BMPR1A, NOG
12smooth muscle cell differentiationGO:005114510.4ACVR1, BMP4
13common-partner SMAD protein phosphorylationGO:000718210.4BMP4, TGFB1
14negative regulation of cell cycleGO:004578610.4BMP4, TGFB1
15negative regulation of myoblast differentiationGO:004566210.4BMP4, TGFB1
16epithelial to mesenchymal transitionGO:000183710.4NOG, TGFB1
17face morphogenesisGO:006032510.4NOG, TGFB1
18positive regulation of cartilage developmentGO:006103610.4BMP1, BMP4
19positive regulation of collagen biosynthetic processGO:003296710.4BMP4, TGFB1
20positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.4BMP4, TGFB1
21neural tube developmentGO:002191510.3NOG, TGFB1
22positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.3NOG, TGFB1
23cranial suture morphogenesisGO:006036310.3BMP4, MSX2
24embryonic hindlimb morphogenesisGO:003511610.3BMP4, MSX2
25epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.3BMP4, MSX2
26transmembrane receptor protein serine/threonine kinase signaling pathwayGO:000717810.3ACVR1, BMPR1A
27regulation of cartilage developmentGO:006103510.3BMP4, TGFB1
28regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289310.3BMP4, TGFB1
29regulation of protein import into nucleusGO:004230610.3BMP4, TGFB1
30odontogenesisGO:004247610.3BMP4, MSX2
31positive regulation of BMP signaling pathwayGO:003051310.3BMP4, MSX2
32response to immobilization stressGO:003590210.2FOS, TGFB1
33response to progesteroneGO:003257010.2FOS, TGFB1
34ventricular compact myocardium morphogenesisGO:000322310.2BMPR1A, NOG
35frontal suture morphogenesisGO:006036410.1MSX2, TGFB1
36endocardial cushion morphogenesisGO:000320310.1ACVR1, BMPR1A, NOG
37negative regulation of fat cell differentiationGO:004559910.1MSX2, TGFB1
38in utero embryonic developmentGO:000170110.1ACVR1, BMPR1A, NOG
39negative regulation of BMP signaling pathwayGO:003051410.1NOG, SMAD7
40pharyngeal arch artery morphogenesisGO:006162610.1BMP4, BMPR1A, NOG
41pituitary gland developmentGO:002198310.1BMP4, BMPR1A, NOG
42negative regulation of pathway-restricted SMAD protein phosphorylationGO:006039410.1NOG, SMAD7
43positive regulation of cell migrationGO:003033510.0ACVR1, BMP4, TGFB1
44negative regulation of gene expressionGO:001062910.0BMP4, NOG, TGFB1
45neural tube closureGO:000184310.0BMP4, NOG, TGFB1
46chondrocyte differentiationGO:00020629.9BMP4, BMPR1A, TGFB1
47positive regulation of SMAD protein import into nucleusGO:00603919.9BMP4, BMPR1A, TGFB1
48osteoblast differentiationGO:00016499.9BMP4, MSX2, NOG
49skeletal system developmentGO:00015019.9BMP1, BMP4, NOG
50SMAD protein signal transductionGO:00603959.8BMP4, FOS, TGFB1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:004633210.3ACVR1, BMPR1A
2activin bindingGO:004818510.1ACVR1, SMAD7
3transforming growth factor beta receptor bindingGO:000516010.0BMP4, TGFB1
4transmembrane receptor protein serine/threonine kinase activityGO:00046759.9ACVR1, BMPR1A
5cytokine activityGO:00051259.8BMP1, BMP4, TGFB1
6growth factor activityGO:00080839.8BMP1, BMP4, TGFB1
7protein homodimerization activityGO:00428039.4ACVR1, BMPR1A, NOG, TGFB1
8type I transforming growth factor beta receptor bindingGO:00347139.1SMAD7, TGFB1
9transcription regulatory region DNA bindingGO:00442129.1FOS, MSX2, SMAD7

Sources for Fibrodysplasia Ossificans Progressiva

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet