MCID: MGS004
MIFTS: 46

Meige Syndrome malady

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

Aliases & Classifications for Meige Syndrome

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Aliases & Descriptions for Meige Syndrome:

Name: Meige Syndrome 11 46 13 52 37 66
Blepharospasm-Oromandibular Dystonia Syndrome 46 52
Meige Dystonia 46 52
Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome 46
Blepharospasm - Oromandibular Dystonia 46
 
Blepharospasm-Oromandibular Dystonia 46
Segmental Cranial Dystonia 46
Oral Facial Dystonia 46
Brueghel Syndrome 46
Meige's Syndrome 46

Classifications:



External Ids:

Disease Ontology11 DOID:3982
MeSH37 D008538
SNOMED-CT60 230325003
Orphanet52 ORPHA93964
ICD10 via Orphanet29 G24.8

Summaries for Meige Syndrome

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NIH Rare Diseases:46 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 blepharospasm-oromandibular dystonia syndrome, is related to oromandibular dystonia and segmental dystonia, and has symptoms including torticollis, hypokinesia and bradykinesia. 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 ovary, and related mouse phenotypes are pigmentation and vision/eye.

Disease Ontology:11 A cranio-facial dystonia that is accompanied by blepharospasm.

Related Diseases for Meige Syndrome

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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 87)
idRelated DiseaseScoreTop Affiliating Genes
1oromandibular dystonia30.1DRD5, THAP1, TOR1A
2segmental dystonia29.5DRD5, SGCE, THAP1, TOR1A
3cervical dystonia29.1GCH1, SGCE, THAP1, TOR1A
4pseudo-meigs syndrome12.1
5atypical meigs syndrome12.1
6hereditary lymphedema type ii11.2
7adie pupil10.5FOXC2, SOX18
8long qt syndrome-1110.5SGCE, TOR1A
9aberrant subclavian artery10.4THAP1, TOR1A
10x-linked dystonia-parkinsonism/lubag10.4THAP1, TOR1A
11handigodu joint disease10.4FOXC1, FOXC2
12hemidystonia10.4THAP1, TOR1A
13miyoshi muscular dystrophy 210.4FOXC2, SOX18
14otitis externa10.3DRD5, KANTR
15struma ovarii10.3
16leiomyoma10.3
17fibroma10.3
18lymphoid leukemia10.3FOXC2, GJC2, SOX18
19blepharospasm10.2
20gummatous syphilis10.2FOXC1, FOXC2, GJC2
21retinitis pigmentosa 3110.2FOXC2, SOX18
22ovarian fibroma10.2
23thiamine metabolism dysfunction syndrome 210.1GCH1, TOR1A
24dystonia10.1
25miller fisher syndrome10.1ATXN3, SGCE
26oculogyric crisis10.0DRD5, GCH1, TOR1A
27spasmodic dystonia10.0GCH1, KANTR
28peritonitis10.0
29cranio-facial dystonia10.0GCH1, THAP1, TOR1A
30pediatric infratentorial ependymoma10.0FOXC2, GJC2
31hereditary lymphedema10.0
32schizophrenia9.9
33systemic lupus erythematosus9.9
34breast cancer9.9
35cystadenoma9.9
36adenocarcinoma9.9
37lupus erythematosus9.9
38ovarian germ cell tumor9.9
39hemifacial spasm9.9
40endotheliitis9.9
41ovarian fibrothecoma9.9
42hemangioma9.9
43histiocytoid hemangioma9.8GCH1, KANTR
44extrahepatic bile duct leiomyosarcoma9.7DRD5, GCH1, THAP1, TOR1A
45colorectal cancer9.7
46ebstein anomaly9.7
47takayasu arteritis9.7
48gastric cancer9.7
49hydrocephalus9.7
50colorectal adenocarcinoma9.7

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



Diseases related to meige syndrome

Symptoms for Meige Syndrome

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UMLS symptoms related to Meige Syndrome:


torticollis, hypokinesia, bradykinesia, clumsiness, fumbling, neonatal dyskinesia, akathisia, posturing, respiratory dyskinesia

Drugs & Therapeutics for Meige Syndrome

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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

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Anatomical Context for Meige Syndrome

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MalaCards organs/tissues related to Meige Syndrome:

34
Brain, Tongue, Ovary, Colon, Breast, Endothelial, Smooth muscle

Animal Models for Meige Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Meige Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0FOXC1, FOXC2, PTS, SOX18
2MP:00053918.4DRD5, FOXC1, FOXC2, GJC2, GLI2, TOR1A
3MP:00053698.0FOXC1, FOXC2, GLI2, PTS, SGCE, TOR1A
4MP:00028737.8DRD5, FOXC1, FOXC2, GJC2, GLI2, SOX18
5MP:00036316.6ATXN3, DRD5, FOXC1, FOXC2, GJC2, GLI2

Publications for Meige Syndrome

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Articles related to Meige Syndrome:

(show top 50)    (show all 256)
idTitleAuthorsYear
1
A case of Meigs' syndrome with preceding pericardial effusion in advance of pleural effusion. (27160723)
2016
2
Pseudo-Meigs' syndrome secondary to metachronous ovarian metastases from transverse colon cancer. (27182170)
2016
3
Combination therapy for segmental craniocervical dystonia (Meige syndrome) with aripiprazole, trihexyphenidyl, and botulinum toxin: three cases reports. (25151364)
2015
4
A case of mixed connective tissue disease with pseudo-pseudo Meigs' syndrome (PPMS)-like features. (26377236)
2015
5
Massive ascites caused by a large pedunculated subserosal uterine leiomyoma that has feeding arteries from peripheral tissues and exhibits elevated CA125: A case report of atypical Pseudo-Meigs' syndrome. (24359072)
2014
6
Pseudo-Meigs' syndrome secondary to endodermal sinus tumour. (24359073)
2014
7
Long-term botulinum toxin treatment of benign essential blepharospasm, hemifacial spasm, and Meige syndrome. (23541393)
2013
8
Misdiagnosis of gossypiboma as Meigs' syndrome. (23096267)
2013
9
Uterine Angioleiomyoma with Atypia, Raised CA-125 Levels, and Pseudo-Meigs Syndrome: An Alarming Presentation. (22953135)
2012
10
Sudden death associated with Meigs syndrome: an autopsy case report. (20634668)
2012
11
Dementia with lewy bodies in meige syndrome. (22984651)
2012
12
Parasitic fibroid and pseudo-Meigs' syndrome: co-existence of two rare entities. (22519502)
2012
13
Bilateral pallidal deep brain stimulation in primary Meige syndrome. (21147544)
2011
14
Pseudo-Meigs' syndrome caused by a uterine leiomyosarcoma: a new clinical condition. (21625074)
2011
15
Clinical experience of Pseudo-Meigs' Syndrome due to colon cancer. (21912477)
2011
16
Long-term suppression of Meige syndrome after pallidal stimulation: a 10-year follow-up study. (20589876)
2010
17
Struma ovarii associated with hyperthyroidism, elevated CA 125 and pseudo-Meigs syndrome may mimic advanced ovarian cancer. (18618418)
2008
18
Abdominal hypertension in Meigs' syndrome. (17905563)
2008
19
Successful treatment of the Meige syndrome with oral zolpidem monotherapy. (18581473)
2008
20
Cystic struma ovarii presenting as pseudo-Meigs' syndrome with elevated CA125 levels. A case report and review of the literature. (18334015)
2008
21
Pseudo-Meigs' syndrome caused by uterine smooth muscle tumor of uncertain malignant potential with low vascular endothelial growth factor expression. (17944915)
2008
22
Struma ovarii with pseudo-Meigs' syndrome and elevated CA125 levels. (17365481)
2007
23
Elevated CA125 level associated with Meigs' syndrome: case report and review of the literature. (16515612)
2006
24
Pseudo-Meigs' syndrome caused by breast cancer metastasis to both ovaries. (17146160)
2006
25
Meigs' syndrome in a young woman with a normal serum CA-125 level. (16265850)
2005
26
Ovarian dysgerminoma associated with Pseudo-Meigs' syndrome and functioning ovarian stroma: a case report. (15863182)
2005
27
Pseudo-Meigs' syndrome associated with malignant struma ovarii: a case report. (15262148)
2004
28
DVT in Meigs' syndrome. (12144916)
2002
29
The role of inflammatory cytokines in Meigs' syndrome. (11975958)
2002
30
Meigs' syndrome with an elevated CA 125 from benign Brenner tumors. (11704231)
2001
31
Cumulative dosage effect of a RAD51L1/HMGA2 fusion and RAD51L1 loss in a case of pseudo-Meigs' syndrome. (11746973)
2001
32
Pseudo-Meigs' syndrome]. (10827530)
2000
33
Pseudo-Meigs syndrome with elevated CA 125 levels. (9645834)
1998
34
Meigs' syndrome--a case report. (2634472)
1989
35
Meigs' syndrome and pseudo-Meigs' syndrome. (20894667)
1987
36
Meigs' syndrome and pseudo-Meigs' syndrome. (3585894)
1987
37
Blepharospasm and Meige syndrome: a review of diagnostic, aetiological and treatment approaches. (3920392)
1985
38
Blepharospasm, Meige syndrome, and hemifacial spasm: treatment with botulinum toxin. (4033932)
1985
39
Atypical endometrioid cystadenofibroma with Meigs' syndrome: ultrastructure and S-phase fraction. (7059908)
1982
40
Pseudo-Meigs syndrome with resulting papillary adenocarcinomas of the ovary and fallopian tube. (6109647)
1980
41
Amylase-producing ovarian neoplasm with pseudo-Meigs' syndrome and elevated pleural fluid amylase: case report and ultrastructure. (498043)
1979
42
Lymphangiogram of Meigs' syndrome. Report of a case. (4316584)
1968
43
Meigs' syndrome--an incomplete form with severe hydrothorax. (5910412)
1966
44
Hydrothorax associated with ovarian carcinoma, simulating Meigs' syndrome. Report of two cases. (13917415)
1962
45
Malignant ovarian tumor with ascites and hydrothorax simulating Meigs' syndrome. (13508986)
1958
46
Meigs' syndrome; apparent cardiac manifestations. (13141064)
1953
47
CLINICAL conference on metabolic problems; hypothyroidism and Meigs' syndrome. (13002076)
1952
48
A case of Meigs' syndrome. (14916191)
1952
49
A case of Meigs' syndrome. (18148205)
1949
50
Fibroma of the ovary associated with ascites and hydrothorax (Meigs' syndrome); report of a case and review of the literature. (20275659)
1946

Variations for Meige Syndrome

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Expression for genes affiliated with Meige Syndrome

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Search GEO for disease gene expression data for Meige Syndrome.

Pathways for genes affiliated with Meige Syndrome

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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

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of apoptotic process involved in outflow tract morphogenesisGO:190225710.5FOXC1, FOXC2
2regulation of blood vessel sizeGO:005088010.5FOXC1, FOXC2
3lymphangiogenesisGO:000194610.5FOXC2, SOX18
4paraxial mesoderm formationGO:004834110.4FOXC1, FOXC2
5regulation of organ growthGO:004662010.4FOXC1, FOXC2
6cardiac muscle cell proliferationGO:006003810.4FOXC1, FOXC2
7artery morphogenesisGO:004884410.3FOXC1, FOXC2
8ventricular cardiac muscle tissue morphogenesisGO:005501010.3FOXC1, FOXC2
9neural crest cell developmentGO:001403210.2FOXC1, FOXC2
10lymph vessel developmentGO:000194510.1FOXC1, FOXC2, SOX18
11somitogenesisGO:000175610.1FOXC1, FOXC2
12blood vessel remodelingGO:000197410.1FOXC1, FOXC2
13ureteric bud developmentGO:000165710.1FOXC1, FOXC2
14collagen fibril organizationGO:00301999.9FOXC1, FOXC2
15intermediate filament cytoskeleton organizationGO:00451049.9ATXN3, TOR1A
16embryonic heart tube developmentGO:00350509.9FOXC1, FOXC2, SOX18
17blood vessel developmentGO:00015689.8FOXC1, FOXC2, SOX18
18in utero embryonic developmentGO:00017019.7FOXC1, GLI2, SOX18
19kidney developmentGO:00018229.7FOXC1, FOXC2, GLI2
20negative regulation of blood pressureGO:00457769.7DRD5, GCH1
21skeletal system developmentGO:00015019.5FOXC1, FOXC2, GLI2
22tetrahydrobiopterin biosynthetic processGO:00067299.4GCH1, PTS
23regulation of nitric-oxide synthase activityGO:00509999.4GCH1, PTS
24positive regulation of transcription, DNA-templatedGO:00458939.2FOXC1, FOXC2, GLI2, SOX18
25heart developmentGO:00075079.0FOXC1, FOXC2, GLI2, SOX18

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

idNameGO IDScoreTop Affiliating Genes
1transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.6FOXC2, GLI2, SOX18
2transcription regulatory region DNA bindingGO:00442129.2FOXC1, FOXC2, GLI2, SOX18
3sequence-specific DNA bindingGO:00435658.7FOXC1, FOXC2, GLI2, SOX18, THAP1

Sources for Meige Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet