MCID: MGS004
MIFTS: 44

Meige Syndrome malady

Categories: Rare diseases, Neuronal diseases, Reproductive diseases, Cancer diseases, Oral diseases

Aliases & Classifications for Meige Syndrome

About this section
Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 47Novoseek, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Meige Syndrome:

Name: Meige Syndrome 10 45 12 51 36 65
Meigs Syndrome 47 51 65
Blepharospasm-Oromandibular Dystonia Syndrome 45 51
Meige Dystonia 45 51
Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome 45
Blepharospasm - Oromandibular Dystonia 45
 
Blepharospasm-Oromandibular Dystonia 45
Segmental Cranial Dystonia 45
Demons-Meigs Syndrome 51
Oral Facial Dystonia 45
Brueghel Syndrome 45
Meige's Syndrome 45

Characteristics:

Orphanet epidemiological data:

51
meigs syndrome:
Inheritance: Not applicable; Age of onset: Adult

Classifications:



External Ids:

Disease Ontology10 DOID:3982
MeSH36 D008538
Orphanet51 314451, 93964
SNOMED-CT59 230325003
ICD10 via Orphanet28 D27, G24.8
UMLS via Orphanet66 C0025184
UMLS65 C0025183, C0025184

Summaries for Meige Syndrome

About this section
NIH Rare Diseases:45 Meige syndrome is a rare, neurological condition characterized by blepharospasm (abnormal movement of the eyelids); oromandibular dystonia (spasms in the jaw and tongue); and sometimes, cervical dystonia. symptoms and severity can vary. the exact cause of meige syndrome is unknown, but researchers suspect that it is due to a combination of genetic and environmental factors. treatment focuses on each person's symptoms and may include drug therapy and/or botulinum a toxin (botox) injections. other treatment options, such as deep brain stimulation, are currently being considered. last updated: 2/17/2015

MalaCards based summary: Meige Syndrome, also known as meigs syndrome, is related to brachydactyly and atypical meigs syndrome. An important gene associated with Meige Syndrome is DRD5 (Dopamine Receptor D5), and among its related pathways are Heart Development and Folate biosynthesis. Affiliated tissues include brain, tongue and prostate, and related mouse phenotypes are pigmentation and vision/eye.

Disease Ontology:10 A cranio-facial dystonia that is accompanied by blepharospasm.

Related Diseases for Meige Syndrome

About this section

Diseases in the Meige Syndrome family:

Pseudo-Meigs Syndrome

Diseases related to Meige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 222)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly30.1FOXC1, FOXC2, GJC2
2atypical meigs syndrome12.3
3pseudo-meigs syndrome12.3
4dental fluorosis10.5
515q13.3 microduplication syndrome10.4FOXC2, SOX18
6hereditary lymphedema10.4
7weill-marchesani syndrome10.3FOXC2, SOX18
8long qt syndrome-1110.3SGCE, TOR1A
9hepatitis10.3
10leukemia10.3
11spastic angina with healthy coronary artery10.3THAP1, TOR1A
12celiac disease10.2
13congenital heart disease10.2
14cranio-facial dystonia10.2THAP1, TOR1A
15pheochromocytoma10.2
16hepatocellular carcinoma10.2
17lymphoma10.2
18myeloma10.2
19retinitis10.2
20endotheliitis10.2
21miyoshi muscular dystrophy 210.2FOXC2, SOX18
22peptic ulcer disease10.2FOXC2, GJC2
23focal dystonia10.2THAP1, TOR1A
24lymphoblastic lymphoma10.1FOXC2, GJC2, SOX18
25oculogyric crisis10.1DRD5, THAP1, TOR1A
26myocardial infarction10.1
27breast cancer10.1
28insulin-like growth factor i10.1
29adrenoleukodystrophy10.1
30arthritis10.1
31gastric cancer10.1
32sarcoma10.1
33esophagitis10.1
34melanoma10.1
35vaginitis10.1
36ankylosis10.1
37cervicitis10.1
38hairy cell leukemia10.1
39severe acute respiratory syndrome10.1
40liposarcoma10.1
41pancreatitis10.1
42myeloid leukemia10.1
43lichen planus10.1
44aneurysm10.1
45thiamine metabolism dysfunction syndrome 210.1GCH1, TOR1A
46focal hand dystonia10.0DRD5, GCH1, TOR1A
47hypochondriasis10.0ATXN3, SGCE
48retinitis pigmentosa 3110.0FOXC2, SOX18
49spasmodic dystonia10.0GCH1, THAP1, TOR1A
50schizophrenia10.0

Graphical network of the top 20 diseases related to Meige Syndrome:



Diseases related to meige syndrome

Symptoms for Meige Syndrome

About this section

Drugs & Therapeutics for Meige Syndrome

About this section

Drugs for Meige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Dihydroxyphenylalanine123

Interventional clinical trials:

idNameStatusNCT IDPhase
1Brain Stimulation to Treat Blepharospasm or Meige SyndromeCompletedNCT00411255Phase 2
2The Dystonia Coalition Natural History and Biospecimen Repository for Isolated DystoniasRecruitingNCT01373424

Search NIH Clinical Center for Meige Syndrome


Cochrane evidence based reviews: meige syndrome

Genetic Tests for Meige Syndrome

About this section

Anatomical Context for Meige Syndrome

About this section

MalaCards organs/tissues related to Meige Syndrome:

33
Brain, Tongue, Prostate, Lung, Bone, Breast, Pituitary

Animal Models for Meige Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Meige Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8FOXC1, FOXC2, PTS, SOX18
2MP:00053918.4DRD5, FOXC1, FOXC2, GJC2, GLI2, TOR1A
3MP:00028738.2DRD5, FOXC1, FOXC2, GJC2, GLI2, SOX18
4MP:00053697.9FOXC1, FOXC2, GLI2, PTS, SGCE, TOR1A
5MP:00036316.4ATXN3, DRD5, FOXC1, FOXC2, GJC2, GLI2

Publications for Meige Syndrome

About this section

Articles related to Meige Syndrome:

(show top 50)    (show all 249)
idTitleAuthorsYear
1
Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates. (27060741)
2016
2
Hyperandrogenism in female athletes with functional hypothalamic amenorrhea: a distinct phenotype. (25610004)
2015
3
CacyBP/SIP protein is important for the proliferation of human glioma cells. (24740456)
2014
4
Renalase gene polymorphism in patients after renal allograft transplantation. (24923329)
2014
5
How predictive are photosensitive epilepsy models as proof of principle trials for epilepsy? (24745323)
2014
6
Left ventricular pacing in neonates and infants with isolated congenital complete or advanced atrioventricular block: short- and medium-term outcome. (25115169)
2014
7
The Molecular Mechanism of Na+, K+-ATPase Malfunction in Mutations Characteristic for Adrenal Hypertension. (24428543)
2014
8
Inflammation induces neuro-lymphatic protein expression in multiple sclerosis brain neurovasculature. (24124909)
2013
9
Elevated levels of soluble total and hyperphosphorylated tau result in early behavioral deficits and distinct changes in brain pathology in a new tau transgenic mouse model. (22797329)
2013
10
Diffuse osteosclerosis-associated acute myeloid leukemia. (22124108)
2012
11
Post mortem cerebrospinal fluid I+-synuclein levels are raised in multiple system atrophy and distinguish this from the other I+-synucleinopathies, Parkinson's disease and Dementia with Lewy bodies. (21856424)
2012
12
Repair of root resorption 4 and 8 weeks after application of continuous light and heavy forces on premolars for 4 weeks: a histology study. (21130331)
2010
13
The neuroprotective mechanism of 1-(R)-aminoindan, the major metabolite of the anti-parkinsonian drug rasagiline. (20002521)
2010
14
Alternative transcription initiation and splicing variants of the DHRS4 gene cluster. (18754758)
2009
15
The soluble form of the cancer-associated L1 cell adhesion molecule is a pro-angiogenic factor. (19401151)
2009
16
Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy. (18060779)
2008
17
Psychosis associated with fluoxetine in Prader-Willi syndrome. (17667473)
2007
18
Shp2, a novel oncogenic tyrosine phosphatase and potential therapeutic target for human leukemia. (17404595)
2007
19
Papillary carcinoma of thyroglossal cyst. (23120479)
2007
20
Oral cysticercosis. (16388881)
2007
21
Pituitary tumour transforming gene (PTTG) expression correlates with the proliferative activity and recurrence status of pituitary adenomas: a clinical and immunohistochemical study. (16984249)
2006
22
Preeclampsia is associated with impaired regulation of the placental nitric oxide-cyclic guanosine monophosphate pathway by corticotropin-releasing hormone (CRH) and CRH-related peptides. (15784708)
2005
23
Effect of angiotensin II type 1 receptor antagonist on oxidative stress markers in type 2 diabetic patients with hypertension]. (12877092)
2003
24
The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum. (12624096)
2003
25
Cutaneous polyarteritis nodosa associated with precore mutant hepatitis B infection. (14616405)
2003
26
Alterations of expression and regulation of transforming growth factor beta in human cancer prostate cell lines. (12589936)
2002
27
Leptin in male reproduction: the testis paradigm. (11911940)
2002
28
Glycodelin levels in uterine flushings and in plasma of patients with leiomyomas and polyps: implications for implantation. (12351556)
2002
29
Faslodex (ICI 182, 780), a novel estrogen receptor downregulator--future possibilities in breast cancer. (11850227)
2001
30
Developmental coordination disorder. (11471392)
2001
31
Outcomes of a randomized controlled trial of a clinical pharmacy intervention in 52 nursing homes. (11298072)
2001
32
Synthetic peptide MMK-1 is a highly specific chemotactic agonist for leukocyte FPRL1. (11435499)
2001
33
Different levels of prion protein (PrPc) expression on hamster, mouse and human blood cells. (10971411)
2000
34
Sequential phosphorylation of protein band 3 by Syk and Lyn tyrosine kinases in intact human erythrocytes: identification of primary and secondary phosphorylation sites. (10942405)
2000
35
Initiation and propagation of molecular cascades in human brain aging: insight from the canine model to promote successful aging. (11191712)
2000
36
Granular cell tumor of the extrahepatic biliary tract. (9798763)
1998
37
Sequencing of the human vascular endothelial growth factor (VEGF) 3' untranslated region (UTR): conservation of five hypoxia-inducible RNA-protein binding sites. (9199248)
1997
38
Cranial nerve enhancement on three-dimensional MRI in Miller Fisher syndrome. (8960757)
1996
39
Hepatic angiomyolipoma: a report of two cases. (8820041)
1996
40
DNA ploidy, serum prostate specific antigen, histological grade and immunohistochemistry as predictive parameters of lymph node metastases in T1-T3/M0 prostatic adenocarcinoma. (7531589)
1995
41
Infantile myofibromatosis. A case report. (8560612)
1995
42
Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. (7931427)
1994
43
Function of the growth-regulated transcription initiation factor TIF-IA in initiation complex formation at the murine ribosomal gene promoter. (8413268)
1993
44
The CD34+ cell fraction in bone marrow and blood is not universally predictive of CFU-GM. (1373692)
1992
45
Microinjection of a p21ras antibody into PC12 cells inhibits neurite outgrowth induced by nerve growth factor and basic fibroblast growth factor. (2049181)
1991
46
Fatal paraquat poisoning: tissue concentrations and implications for treatment. (642229)
1978
47
Pulmonary blastoma. (199865)
1977
48
Atypical cerebral gigantism. A case report. (5763313)
1969
49
Multiphasic management of premenstrual tension. (13600647)
1958
50

Variations for Meige Syndrome

About this section

Expression for genes affiliated with Meige Syndrome

About this section
Search GEO for disease gene expression data for Meige Syndrome.

Pathways for genes affiliated with Meige Syndrome

About this section

Pathways related to Meige Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.8FOXC1, FOXC2
29.1GCH1, PTS

GO Terms for genes affiliated with Meige Syndrome

About this section

Biological processes related to Meige Syndrome according to GeneCards Suite gene sharing:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of apoptotic process involved in outflow tract morphogenesisGO:190225710.5FOXC1, FOXC2
2paraxial mesoderm formationGO:004834110.4FOXC1, FOXC2
3ventricular cardiac muscle tissue morphogenesisGO:005501010.4FOXC1, FOXC2
4collagen fibril organizationGO:003019910.4FOXC1, FOXC2
5neural crest cell developmentGO:001403210.4FOXC1, FOXC2
6regulation of organ growthGO:004662010.4FOXC1, FOXC2
7blood vessel remodelingGO:000197410.4FOXC1, FOXC2
8artery morphogenesisGO:004884410.3FOXC1, FOXC2
9blood vessel developmentGO:000156810.3FOXC1, FOXC2
10somitogenesisGO:000175610.2FOXC1, FOXC2
11embryonic heart tube developmentGO:003505010.0FOXC1, FOXC2, SOX18
12lymph vessel developmentGO:000194510.0FOXC1, FOXC2, SOX18
13skeletal system developmentGO:00015019.8FOXC1, FOXC2
14heart developmentGO:00075079.7FOXC1, FOXC2, SOX18
15in utero embryonic developmentGO:00017019.7FOXC1, GLI2, SOX18
16kidney developmentGO:00018229.6FOXC1, FOXC2, GLI2
17negative regulation of blood pressureGO:00457769.6DRD5, GCH1
18positive regulation of transcription, DNA-templatedGO:00458939.4FOXC1, FOXC2, GLI2, SOX18
19nitric oxide metabolic processGO:00462099.3GCH1, PTS
20positive regulation of transcription from RNA polymerase II promoterGO:00459449.0FOXC1, FOXC2, GLI2, SOX18

Molecular functions related to Meige Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.3FOXC1, GLI2, SOX18

Sources for Meige Syndrome

About this section
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