MCID: MGS004
MIFTS: 45

Meige Syndrome malady

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

Aliases & Classifications for Meige Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 31ICD10 via Orphanet, 39MeSH, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Meige Syndrome:

Name: Meige Syndrome 11 48 54 39 13 68
Meigs Syndrome 54 50 68
Blepharospasm-Oromandibular Dystonia Syndrome 48 54
Meige Dystonia 48 54
Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome 48
Blepharospasm - Oromandibular Dystonia 48
 
Blepharospasm-Oromandibular Dystonia 48
Segmental Cranial Dystonia 48
Demons-Meigs Syndrome 54
Oral Facial Dystonia 48
Brueghel Syndrome 48
Meige's Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
meigs syndrome:
Inheritance: Not applicable; Age of onset: Adult

Classifications:



External Ids:

Disease Ontology11 DOID:3982
MeSH39 D008538
SNOMED-CT62 230325003
ICD10 via Orphanet31 D27, G24.8
UMLS via Orphanet69 C0025184

Summaries for Meige Syndrome

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NIH Rare Diseases:48 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 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 is Heart Development. Affiliated tissues include ovary, brain and colon, and related mouse phenotypes are normal 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 83)
idRelated DiseaseScoreTop Affiliating Genes
1oromandibular dystonia29.8DRD5, THAP1, TOR1A
2segmental dystonia29.2DRD5, SGCE, THAP1, TOR1A
3cervical dystonia29.0GCH1, SGCE, THAP1, TOR1A
4pseudo-meigs syndrome12.0
5atypical meigs syndrome12.0
6blepharospasm, primary benign10.9
7adie pupil10.4FOXC2, SOX18
8handigodu joint disease10.4FOXC1, FOXC2
9long qt syndrome-1110.3SGCE, TOR1A
10aberrant subclavian artery10.3THAP1, TOR1A
11x-linked dystonia-parkinsonism/lubag10.3THAP1, TOR1A
12hemidystonia10.3THAP1, TOR1A
13miyoshi muscular dystrophy 210.3FOXC2, SOX18
14otitis externa10.2DRD5, KANTR
15lymphoid leukemia10.2FOXC2, GJC2, SOX18
16pediatric infratentorial ependymoma10.2FOXC2, GJC2
17struma ovarii10.2
18gummatous syphilis10.2FOXC1, FOXC2, GJC2
19leiomyoma10.2
20fibroma10.2
21blepharospasm10.1
22thiamine metabolism dysfunction syndrome 210.1GCH1, TOR1A
23multifocal dystonia10.1THAP1, TOR1A
24spasmodic dystonia10.0GCH1, KANTR
25ovarian fibroma10.0
26oculogyric crisis10.0DRD5, GCH1, TOR1A
27miller fisher syndrome10.0ATXN3, SGCE
28dystonia10.0
29cranio-facial dystonia10.0GCH1, THAP1, TOR1A
30retinitis pigmentosa 3110.0FOXC2, SOX18
31peritonitis9.9
32schizophrenia9.8
33systemic lupus erythematosus9.8
34breast cancer9.8
35cystadenoma9.8
36adenocarcinoma9.8
37lupus erythematosus9.8
38ovarian germ cell tumor9.8
39hemifacial spasm9.8
40endotheliitis9.8
41ovarian fibrothecoma9.8
42histiocytoid hemangioma9.8GCH1, KANTR
43extrahepatic bile duct leiomyosarcoma9.8DRD5, GCH1, THAP1, TOR1A
44gastric cancer9.7
45hemangioma9.7
46urinary tract papillary transitional cell benign neoplasm9.7GCH1, SGCE, THAP1, TOR1A
47angiomyolipoma9.6ATXN3, KANTR, TOR1A
48colorectal cancer9.6
49ebstein anomaly9.6
50takayasu arteritis9.6

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



Diseases related to meige syndrome

Symptoms & Phenotypes for Meige Syndrome

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UMLS symptoms related to Meige Syndrome:


torticollis, hypokinesia, bradykinesia, clumsiness, fumbling, neonatal dyskinesia, akathisia, posturing, respiratory dyskinesia, cachexia, cancer pain, tumor pain, metastatic pain, breakthrough pain, hepatic hydrothorax

MGI Mouse Phenotypes related to Meige Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.8DRD5, FOXC1, FOXC2, GJC2, GLI2, SOX18
2MP:00053918.3DRD5, FOXC1, FOXC2, GJC2, GLI2, TOR1A
3MP:00036318.2ATXN3, DRD5, FOXC1, FOXC2, GJC2, GLI2

Drugs & Therapeutics for Meige Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Dihydroxyphenylalanine140

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:

36
Ovary, Brain, Colon, Breast, Endothelial, Globus pallidus, Uterus

Publications for Meige Syndrome

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Articles related to Meige Syndrome:

(show top 50)    (show all 259)
idTitleAuthorsYear
1
A case of Meigs' syndrome with preceding pericardial effusion in advance of pleural effusion. (27160723)
2016
2
Long-term survival in pseudo-Meigs' syndrome caused by ovarian metastases from colon cancer. (27842595)
2016
3
Pseudo-Meigs' syndrome secondary to metachronous ovarian metastases from transverse colon cancer. (27182170)
2016
4
Application of electrophysiological methodsA and magnetic resonance tomographic angiography in the differentiation between hemifacial spasm and Meige syndrome. (26838523)
2016
5
Case of pseudo-Meigs' syndrome caused by gastric cancer-related metastatic ovarian tumor with prolonged survival. (27895818)
2016
6
Systemic Lupus Erythematosus Presenting with Massive Ascites: A Case of Pseudo-Pseudo Meigs Syndrome. (27366341)
2016
7
Marked Improvement of Meige Syndrome in a Japanese Male Patient with Schizophrenia After Switching from Risperidone to Paliperidone: A Case Report. (27627971)
2016
8
Enormous ovarian fibroma with elevated Ca-125 associated with Meigs' syndrome. Presentation of a rare case. (27048129)
2016
9
Pseudo-Meigs' syndrome due to ovarian metastases from colon cancer: a case report and review of the literature. (27734419)
2016
10
Combination therapy for segmental craniocervical dystonia (Meige syndrome) with aripiprazole, trihexyphenidyl, and botulinum toxin: three cases reports. (25151364)
2015
11
A case of mixed connective tissue disease with pseudo-pseudo Meigs' syndrome (PPMS)-like features. (26377236)
2015
12
Coexistence of benign struma ovarii, pseudo-Meigs' syndrome and elevated serum CA 125: Case report and review of the literature. (25789033)
2015
13
Deep Brain Stimulation for Craniocervical Dystonia (Meige Syndrome): A Report of Four Patients and a Literature-Based Analysis of Its Treatment Effects. (26399458)
2015
14
Cellular leiomyoma with necrosis and mucinous degeneration presenting as pseudo-Meigs' syndrome with elevated CA125. (25891047)
2015
15
Serous Cystadenoma and Fibrothecoma: A Rare Combination in Collision Tumor of Ovary with Pseudo-Meigs Syndrome. (26148741)
2015
16
Ovarian Fibroma Presenting With Meigs Syndrome. (25715273)
2015
17
METASTATIC RADIOIODINE AVID STRUMA OVARII ASSOCIATED WITH PSEUDO-MEIGS' SYNDROME. (26721055)
2015
18
Pseudo-Meigs' Syndrome Caused by a Krukenberg Tumour of Gastric Cancer. (26466694)
2015
19
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
20
Pseudo-Meigs' syndrome secondary to endodermal sinus tumour. (24359073)
2014
21
Large twisted ovarian fibroma associated with Meigs' syndrome, abdominal pain and severe anemia treated by laparoscopic surgery. (24962423)
2014
22
Concentrated ascites re-infusion therapy for pseudo-Meigs' syndrome complicated by massive ascites in large pedunculated uterine leiomyoma. (25056475)
2014
23
Meigs' syndrome with elevated serum CA 125 level in a case of ovarian fibrothecoma. (25556284)
2014
24
Pseudo-Meigs' syndrome associated with hydropic degenerating uterine leiomyoma: a case report. (24612300)
2014
25
Meigs' syndrome with elevated serum CA125 in a case of ovarian fibroma /thecoma. (24490014)
2014
26
Globus pallidus interna deep brain stimulation in a patient with medically intractable meige syndrome. (25360233)
2014
27
Pallidal deep brain stimulation in the treatment of Meige syndrome. (24981184)
2014
28
Long-term botulinum toxin treatment of benign essential blepharospasm, hemifacial spasm, and Meige syndrome. (23541393)
2013
29
Misdiagnosis of gossypiboma as Meigs' syndrome. (23096267)
2013
30
Borderline mucinous ovarian tumor presenting as pseudo-Meigs' syndrome. (22672527)
2013
31
A rare case of bilateral ovarian fibroma presenting as Meigs syndrome. (23919874)
2013
32
A case of schizophrenia with meige syndrome induced by perospirone successfully treated with biperiden. (23487218)
2013
33
A rare form of SLE: pseudo-pseudo meigs syndrome and hydrocephalus. (22451030)
2013
34
Meigs syndrome presenting with axillary vein thrombosis and lymphadenopathy: a case report. (23856407)
2013
35
Pseudo-Meigs' syndrome associated with struma ovarii. (23616325)
2013
36
Ovarian mass, pleural effusion, and ascites: revisiting Meigs syndrome. (23328144)
2013
37
Severe inflammation may be caused by hyperferritinemia of pseudo-pseudo Meigs' syndrome in lupus patients: two cases reports and a literature review. (23959446)
2013
38
Meigs' syndrome: a rare cause of recurrent pleural effusion in scleroderma. (22538500)
2013
39
Uterine Angioleiomyoma with Atypia, Raised CA-125 Levels, and Pseudo-Meigs Syndrome: An Alarming Presentation. (22953135)
2012
40
Sudden death associated with Meigs syndrome: an autopsy case report. (20634668)
2012
41
Dementia with lewy bodies in meige syndrome. (22984651)
2012
42
Parasitic fibroid and pseudo-Meigs' syndrome: co-existence of two rare entities. (22519502)
2012
43
Mitotically active cellular ovarian fibroma with Meigs' syndrome and elevated CA-125: towards fertility preservation. (22980413)
2012
44
Pseudo-Meigs syndrome caused by sigmoid colon cancer metastasis to the ovary. (21824600)
2012
45
Meigs' syndrome. (22472326)
2012
46
Pseudo-pseudo Meigs' syndrome in a patient with systemic lupus erythematosus. (22983642)
2012
47
A case of pseudo-meigs' syndrome associated with ovarian metastases from breast cancer. (23346179)
2012
48
Struma ovarii, pseudo-Meigs' syndrome and raised CA125, a rare association. Answer to May e-quid. (22818078)
2012
49
Bilateral pallidal deep brain stimulation in primary Meige syndrome. (21147544)
2011
50
Pseudo-Meigs' syndrome caused by a uterine leiomyosarcoma: a new clinical condition. (21625074)
2011

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

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 24)
idNameGO IDScoreTop Affiliating Genes
1lymphangiogenesisGO:000194610.6FOXC2, SOX18
2artery morphogenesisGO:004884410.6FOXC1, FOXC2
3blood vessel remodelingGO:000197410.6FOXC1, FOXC2
4cardiac muscle cell proliferationGO:006003810.6FOXC1, FOXC2
5collagen fibril organizationGO:003019910.6FOXC1, FOXC2
6heart morphogenesisGO:000300710.6FOXC1, FOXC2
7negative regulation of apoptotic process involved in outflow tract morphogenesisGO:190225710.5FOXC1, FOXC2
8neural crest cell developmentGO:001403210.5FOXC1, FOXC2
9paraxial mesoderm formationGO:004834110.5FOXC1, FOXC2
10negative regulation of blood pressureGO:004577610.5DRD5, GCH1
11regulation of blood vessel sizeGO:005088010.4FOXC1, FOXC2
12regulation of organ growthGO:004662010.4FOXC1, FOXC2
13somitogenesisGO:000175610.3FOXC1, FOXC2
14blood vessel developmentGO:000156810.3FOXC1, FOXC2, SOX18
15embryonic heart tube developmentGO:003505010.3FOXC1, FOXC2, SOX18
16lymph vessel developmentGO:000194510.2FOXC1, FOXC2, SOX18
17ureteric bud developmentGO:000165710.2FOXC1, FOXC2
18intermediate filament cytoskeleton organizationGO:004510410.1ATXN3, TOR1A
19kidney developmentGO:000182210.0FOXC1, FOXC2, GLI2
20in utero embryonic developmentGO:000170110.0FOXC1, GLI2, SOX18
21skeletal system developmentGO:00015019.9FOXC1, FOXC2, GLI2
22ventricular cardiac muscle tissue morphogenesisGO:00550109.8FOXC1, FOXC2
23heart developmentGO:00075079.7FOXC1, FOXC2, GLI2, SOX18
24positive regulation of transcription, DNA-templatedGO:00458939.6FOXC1, FOXC2, GLI2, SOX18

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.6FOXC1, FOXC2, GLI2, SOX18
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.4FOXC2, GLI2, SOX18
3sequence-specific DNA bindingGO:00435659.3FOXC1, FOXC2, GLI2, SOX18, THAP1

Sources for Meige Syndrome

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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