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

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 36MeSH, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Fibrodysplasia Ossificans Progressiva:

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

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

HPO:

61
fibrodysplasia ossificans progressiva:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 135100
Disease Ontology10 DOID:13374
ICD1027 M61.1, M61.10
ICD9CM29 728.11
MeSH36 D009221
NCIt42 C3040
Orphanet51 337
ICD10 via Orphanet28 M61.1
MESH via Orphanet37 D009221
UMLS via Orphanet66 C0016037
MedGen34 C0016037
UMLS65 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 ossificans and osseous heteroplasia, progressive, and has symptoms including ectopic calcification, short hallux 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 tumorigenesis and vision/eye.

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.

Wikipedia:68 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:

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

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 2210302-79-45538, 444795
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 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)
2Contraceptives, OralPhase 23734

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)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

Anatomical Context for Fibrodysplasia Ossificans Progressiva

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MalaCards organs/tissues related to Fibrodysplasia Ossificans Progressiva:

33
Bone, Skeletal muscle, Skin, Brain, Lung, Breast, Prostate

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:00020069.2ACVR1, BMPR1A, FOS, ID3
2MP:00053918.2BMP4, BMPR1A, FOS, ID3, MSX2, NOG
3MP:00053778.0ACVR1, BMP4, BMPR1A, FOS, MSX2, NOG
4MP:00107718.0BMP4, BMPR1A, FOS, MSX2, NOG, SMAD7
5MP:00053897.9BMP4, BMPR1A, FOS, ID3, NOG, SMAD7
6MP:00036317.9ACVR1, BMP4, BMPR1A, FOS, ID3, MSX2
7MP:00053717.8ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
8MP:00053847.6ACVR1, BMP4, BMPR1A, FOS, ID3, NOG
9MP:00053797.5BMP4, BMPR1A, FOS, ID3, MSX2, NOG
10MP:00028737.5BMP4, BMPR1A, FOS, ID3, MSX2, NOG
11MP:00053817.3ACVR1, BMP1, BMP4, ID3, MSX2, NOG
12MP:00053697.3ACVR1, BMP1, BMP4, BMPR1A, MSX2, NOG
13MP:00053906.9ACVR1, BMP1, BMP4, BMPR1A, FOS, ID3
14MP:00053766.9ACVR1, BMP1, BMP4, BMPR1A, FOS, ID3
15MP:00053826.8ACVR1, BMP1, BMP4, BMPR1A, FOS, MSX2
16MP:00053876.7ACVR1, BMP1, BMPR1A, FOS, ID3, MSX2
17MP:00053806.6ACVR1, BMP1, BMP4, BMPR1A, FOS, ID3
18MP:00053856.6ACVR1, BMP1, BMP4, BMPR1A, ID3, MSX2
19MP:00053976.5BMP1, BMP4, BMPR1A, FOS, ID3, MSX2
20MP:00107686.3ACVR1, BMP1, BMP4, BMPR1A, FOS, ID3
21MP:00053786.2ACVR1, 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 323)
idTitleAuthorsYear
1
Hailey-Hailey disease. (27057511)
2016
2
Atrial Fibrillation Due to Acute Myocarditis During Dengue Haemorrhagic Fever. (26500943)
2015
3
Hepatocyte nuclear factor 4I+-nuclear factor-I_B feedback circuit modulates liver cancer progression. (24752868)
2014
4
Characteristics of internal hernia after gastrectomy with Roux-en-Y reconstruction for gastric cancer. (24399525)
2014
5
A novel Aurora-A-mediated phosphorylation of p53 inhibits its interaction with MDM2. (23201157)
2013
6
Stromal cell-derived factor-1 overexpression induces gastric dysplasia through expansion of stromal myofibroblasts and epithelial progenitors. (22362916)
2013
7
GATA4 and DcR1 methylation in glioblastomas. (23320456)
2013
8
Eales' disease - current concepts in diagnosis and management. (23514227)
2013
9
Comparison of the expression of 5 heat shock proteins in benign and malignant salivary gland tumor tissues. (23599795)
2013
10
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. (23844677)
2013
11
Sphingosine 1-phosphate induces filopodia formation through S1PR2 activation of ERM proteins. (23106337)
2013
12
Hydrogen sulfide-linked sulfhydration of NF-I_B mediates its antiapoptotic actions. (22244329)
2012
13
Aortic coarctation and coronary artery disease: the XY factor. (22675159)
2012
14
Metformin lowers the threshold for stress-induced senescence: a role for the microRNA-200 family and miR-205. (22356767)
2012
15
Oral low-dose chemotherapy: successful treatment of an alveolar rhabdomyosarcoma during pregnancy. (22076833)
2012
16
A rare case of reversible acquired AA-type renal amyloidosis in a chronic filariasis patient receiving antifilarial therapy. (21519822)
2011
17
Lymphangioma circumscriptum and Whimster's hypothesis revisited. (21548521)
2011
18
CYP2C19 gene polymorphism may be a risk factor for bronchial asthma. (21160212)
2011
19
Generalized scaling and redness in a 2-month-old boy. Crusted (Norwegian) scabies (CS). (21182645)
2010
20
EGFR expression variance in paired colorectal cancer primary and metastatic tumors. (20595818)
2010
21
Positive and negative predictive values of HLA-DR and CD34 in the diagnosis of acute promyelocytic leukemia and other types of acute myeloid leukemia with recurrent chromosomal translocations. (20232575)
2009
22
Mutational analysis of human heat-shock transcription factor 1 reveals a regulatory role for oligomerization in DNA-binding specificity. (19758120)
2009
23
Engineered inhibitor sensitivity in the WPD loop of a protein tyrosine phosphatase. (18358001)
2008
24
Tumor-associated proteolytic factors uPA and PAI-1: critical appraisal of their clinical relevance in breast cancer and their integration into decision-support algorithms. (17364692)
2007
25
No evidence for a preferential transmission of the methylenetetrahydrofolate reductase 677T allele in families with schizophrenia offspring. (17503473)
2007
26
Elevated levels of gene expression for collagen and decorin in human gingival overgrowth. (16820039)
2006
27
Interferon treatment for hypereosinophilic syndromes and systemic mastocytosis. (15995323)
2005
28
Sterol-regulatory-element binding protein inhibits upstream stimulatory factor-stimulated hepatic lipase gene expression. (15721010)
2005
29
Effects of phytochemicals of Flemingia vestita (Fabaceae) on glucose 6-phosphate dehydrogenase and enzymes of gluconeogenesis in a cestode (Raillietina echinobothrida). (15556076)
2004
30
Analysis of recombinant human saposin A expressed by Pichia pastoris. (15120640)
2004
31
Survival of patients with nonseminomatous germ cell cancer: a review of the IGCC classification by Cox regression and recursive partitioning. (15026798)
2004
32
Infection, fever, and exogenous and endogenous pyrogens: some concepts have changed. (15373964)
2004
33
Cortical glucose metabolism is altered in aged transgenic Tg2576 mice that demonstrate Alzheimer plaque pathology. (12541014)
2003
34
Vastus lateralis strain associated with patellofemoral pain syndrome: a report of 2 cases. (12690602)
2003
35
The predictive of tumour markers CA 15-3, TPS and CEA in breast cancer recurrence. (14732178)
2000
36
The effect of an individual's cytochrome CYP3A4 activity on docetaxel clearance. (10778948)
2000
37
The N-terminal domain of human TAFII68 displays transactivation and oncogenic properties. (10637511)
1999
38
Construction and analysis of a semi-quantitative energy profile for the reaction catalyzed by the radical enzyme galactose oxidase. (9602051)
1998
39
RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor. (9199346)
1997
40
Oncocytoma of the lacrimal sac associated with chronic dacryocystitis. (8872379)
1996
41
Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited. (7943041)
1994
42
Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras. (8516298)
1993
43
Inhibition of aldosterone production by pinacidil in vitro. (1655650)
1991
44
Role of influenza B virus in hepatic steatosis and mitochondrial abnormalities in a mouse model of Reye syndrome. (1846348)
1991
45
Pseudotumor cerebri. (3824149)
1987
46
Diseases that present as cutaneous sclerosis. (7181784)
1982
47
Granulomatous laryngitis of unknown etiology. (7392756)
1980
48
Behavioral consequences of congenital rubella. (702254)
1978
49
Chronic oral candidiasis (autosomal recessive inheritance) (three cases). (5477064)
1970
50
An endobronchial chondroma in a cachectic psychotic with hypopituitarism. (13253916)
1955

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 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 18)
idSuper pathwaysScoreTop Affiliating Genes
19.7BMP4, BMPR1A
29.7BMP4, BMPR1A
3
Show member pathways
9.3ACVR1, SMAD7
49.3BMP4, BMPR1A, NOG
59.2BMP4, MSX2, NOG
69.1BMP1, BMP4, NOG
79.0BMP1, BMP4, ID3
8
Show member pathways
9.0BMP1, BMP4, ID3
98.9BMP4, BMPR1A, SMAD7
108.8ACVR1, BMP4, BMPR1A, ID3
11
Show member pathways
8.8BMPR1A, NOG, SMAD7
128.5BMP4, FOS, NOG, SMAD7
13
Show member pathways
8.3ACVR1, BMP1, BMP4, BMPR1A, FOS
14
Show member pathways
8.3ACVR1, BMP1, BMP4, BMPR1A, FOS
158.3BMP1, BMP4, FOS, SMAD7
16
Show member pathways
8.2ACVR1, BMP4, BMPR1A, NOG, SMAD7
17
Show member pathways
8.1ACVR1, BMP4, BMPR1A, FOS, SMAD7
18
Show member pathways
7.6ACVR1, BMP4, BMPR1A, FOS, SMAD7

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 all 46)
idNameGO IDScoreTop Affiliating Genes
1forebrain developmentGO:003090010.3BMP4, NOG
2embryonic skeletal joint morphogenesisGO:006027210.3BMP4, NOG
3smooth muscle cell differentiationGO:005114510.3ACVR1, BMP4
4neural tube closureGO:000184310.3BMP4, NOG
5embryonic skeletal system developmentGO:004870610.3BMP4, NOG
6positive regulation of epithelial cell proliferationGO:005067910.3BMP4, NOG
7chondrocyte differentiationGO:000206210.3BMP4, BMPR1A
8signal transduction by protein phosphorylationGO:002301410.2ACVR1, BMPR1A
9positive regulation of bone mineralizationGO:003050110.2ACVR1, BMP4
10dorsal/ventral pattern formationGO:000995310.2BMPR1A, NOG
11positive regulation of BMP signaling pathwayGO:003051310.2BMP4, MSX2
12embryonic hindlimb morphogenesisGO:003511610.2BMP4, MSX2
13negative regulation of myoblast differentiationGO:004566210.2BMP4, ID3
14skeletal system developmentGO:000150110.1BMP4, NOG
15negative regulation of osteoblast differentiationGO:004566810.1ID3, NOG
16pattern specification processGO:000738910.1BMPR1A, NOG
17positive regulation of osteoblast differentiationGO:004566910.0BMP4, MSX2
18odontogenesis of dentin-containing toothGO:004247510.0BMP4, BMPR1A
19metanephros developmentGO:000165610.0BMP4, ID3
20germ cell developmentGO:000728110.0ACVR1, BMP4
21SMAD protein signal transductionGO:00603959.9BMP1, BMP4
22cartilage developmentGO:00512169.9MSX2, NOG
23negative regulation of pathway-restricted SMAD protein phosphorylationGO:00603949.9NOG, SMAD7
24positive regulation of cell deathGO:00109429.9BMP4, MSX2
25pituitary gland developmentGO:00219839.8BMP4, BMPR1A, NOG
26in utero embryonic developmentGO:00017019.8ACVR1, BMPR1A, NOG
27lung developmentGO:00303249.8BMP4, BMPR1A
28wound healingGO:00420609.8BMP4, MSX2, NOG
29negative regulation of BMP signaling pathwayGO:00305149.7NOG, SMAD7
30ossificationGO:00015039.7BMP1, MSX2
31ureteric bud developmentGO:00016579.7BMP4, SMAD7
32negative regulation of sequence-specific DNA binding transcription factor activityGO:00434339.7ID3, SMAD7
33anatomical structure formation involved in morphogenesisGO:00486469.7BMP4, NOG
34odontogenesisGO:00424769.6BMP4, ID3, MSX2
35negative regulation of cell migrationGO:00303369.5NOG, SMAD7
36negative regulation of gene expressionGO:00106299.5BMP4, ID3, NOG
37mesoderm formationGO:00017079.4ACVR1, BMP4, BMPR1A, NOG
38cellular response to BMP stimulusGO:00717739.4ACVR1, BMP4, BMPR1A, NOG
39embryonic digit morphogenesisGO:00427339.3BMP4, BMPR1A, MSX2, NOG
40embryonic limb morphogenesisGO:00303269.3BMP4, MSX2
41osteoblast differentiationGO:00016499.2BMP4, MSX2, NOG
42heart developmentGO:00075079.2ACVR1, BMP4, BMPR1A, ID3
43negative regulation of transcription from RNA polymerase II promoterGO:00001228.9BMP4, ID3, MSX2, NOG
44negative regulation of transcription, DNA-templatedGO:00458928.5BMP4, ID3, MSX2, SMAD7
45BMP signaling pathwayGO:00305098.3ACVR1, BMP1, BMP4, BMPR1A, MSX2, NOG
46positive regulation of transcription from RNA polymerase II promoterGO:00459448.1BMP4, BMPR1A, FOS, NOG, SMAD7

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:00463329.7ACVR1, BMPR1A

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