MCID: MGS004
MIFTS: 43

Meige Syndrome malady

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

Aliases & Classifications for Meige Syndrome

About this section
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

About this section
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 cervical dystonia, and has symptoms including torticollis An important gene associated with Meige Syndrome is DRD5 (Dopamine Receptor D5), and among its related pathways is Folate biosynthesis. Affiliated tissues include brain, tongue and ovary, 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

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 93)
idRelated DiseaseScoreTop Affiliating Genes
1oromandibular dystonia29.8DRD5, GCH1, TOR1A
2cervical dystonia29.5GCH1, SGCE, TOR1A
3pseudo-meigs syndrome12.0
4atypical meigs syndrome12.0
5blepharospasm, primary benign10.8
6hereditary lymphedema10.8
7spastic paraplegia 1510.3THAP1, TOR1A
8ectodermal dysplasia blindness10.3THAP1, TOR1A
9metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria10.2FOXC1, FOXC2
10oculodentodigital dysplasia10.2FOXC2, GJC2, SOX18
11sleep apnea10.2THAP1, TOR1A
12congenital generalized lipodystrophy10.2FOXC1, FOXC2, GJC2
13lymphoma, large-cell, immunoblastic10.2FOXC2, GJC2, SOX18
14struma ovarii10.2
15microcephaly 12, primary, autosomal recessive10.2SGCE, TOR1A
16leiomyoma10.2
17fibroma10.2
18spastic paraplegia 44, autosomal recessive10.2GCH1, GJC2, TOR1A
19hemidystonia10.2GCH1, THAP1, TOR1A
20ulcerative blepharitis10.1DRD5, KANTR
21diabetes and deafness, maternally inherited10.1KANTR, TOR1A
22blepharospasm10.1
23corneal neovascularization10.1CAMP, KANTR
24localized chondrosarcoma10.1KANTR, PKDREJ
25pituitary gland disease10.1DRD5, GCH1, THAP1, TOR1A
26cavernous hemangioma10.1GCH1, SGCE, TOR1A
27coronary artery dissection, spontaneous10.1FOXC2, SOX18
28cranio-facial dystonia10.1GCH1, KANTR
29testicular yolk sac tumor10.0CAMP, KANTR
30ovarian fibroma10.0
31halal setton wang syndrome10.0GCH1, PTS
32focal hand dystonia10.0GCH1, SGCE, THAP1, TOR1A
33oculogyric crisis10.0CAMP, KANTR
34dystonia10.0
35capos syndrome10.0GCH1, SGCE, THAP1, TOR1A
36spasmodic dystonia10.0CAMP, DRD5, THAP1, TOR1A
37eccrine acrospiroma10.0GCH1, SGCE, THAP1, TOR1A
38acute serous otitis media10.0CAMP, KANTR
39alpha thalassemia-x-linked intellectual disability syndrome10.0GCH1, SGCE, THAP1, TOR1A
40ampulla of vater adenosquamous carcinoma9.9CAMP, KANTR
41anismus9.9DRD5, GCH1, SGCE, THAP1, TOR1A
42peritonitis9.9
43schizophrenia9.8
44systemic lupus erythematosus9.8
45breast cancer9.8
46cystadenoma9.8
47adenocarcinoma9.8
48lupus erythematosus9.8
49ovarian germ cell tumor9.8
50hemifacial spasm9.8

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



Diseases related to meige syndrome

Symptoms & Phenotypes for Meige Syndrome

About this section

UMLS symptoms related to Meige Syndrome:


torticollis

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.4DRD5, FOXC1, FOXC2, GJC2, GLI2, SOX18
2MP:00053918.5CAMP, DRD5, FOXC1, FOXC2, GJC2, GLI2
3MP:00053698.4FOXC1, FOXC2, GLI2, HTR2A, PTS, SGCE
4MP:00036318.2ATXN3, DRD5, FOXC1, FOXC2, GJC2, GLI2

Drugs & Therapeutics for Meige Syndrome

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Dihydroxyphenylalanine143

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:

36
Brain, Tongue, Ovary, Colon, Breast, Endothelial, Smooth muscle

Publications for Meige Syndrome

About this section

Articles related to Meige Syndrome:

(show top 50)    (show all 259)
idTitleAuthorsYear
1
Systemic Lupus Erythematosus Presenting with Massive Ascites: A Case of Pseudo-Pseudo Meigs Syndrome. (27366341)
2016
2
Marked Improvement of Meige Syndrome in a Japanese Male Patient with Schizophrenia After Switching from Risperidone to Paliperidone: A Case Report. (27627971)
2016
3
Application of electrophysiological methodsA and magnetic resonance tomographic angiography in the differentiation between hemifacial spasm and Meige syndrome. (26838523)
2016
4
Pseudo-Meigs' syndrome secondary to metachronous ovarian metastases from transverse colon cancer. (27182170)
2016
5
Enormous ovarian fibroma with elevated Ca-125 associated with Meigs' syndrome. Presentation of a rare case. (27048129)
2016
6
Pseudo-Meigs' syndrome due to ovarian metastases from colon cancer: a case report and review of the literature. (27734419)
2016
7
Case of pseudo-Meigs' syndrome caused by gastric cancer-related metastatic ovarian tumor with prolonged survival. (27895818)
2016
8
Long-term survival in pseudo-Meigs' syndrome caused by ovarian metastases from colon cancer. (27842595)
2016
9
A case of Meigs' syndrome with preceding pericardial effusion in advance of pleural effusion. (27160723)
2016
10
Deep Brain Stimulation for Craniocervical Dystonia (Meige Syndrome): A Report of Four Patients and a Literature-Based Analysis of Its Treatment Effects. (26399458)
2015
11
Cellular leiomyoma with necrosis and mucinous degeneration presenting as pseudo-Meigs' syndrome with elevated CA125. (25891047)
2015
12
Serous Cystadenoma and Fibrothecoma: A Rare Combination in Collision Tumor of Ovary with Pseudo-Meigs Syndrome. (26148741)
2015
13
Ovarian Fibroma Presenting With Meigs Syndrome. (25715273)
2015
14
A case of mixed connective tissue disease with pseudo-pseudo Meigs' syndrome (PPMS)-like features. (26377236)
2015
15
Pseudo-Meigs' Syndrome Caused by a Krukenberg Tumour of Gastric Cancer. (26466694)
2015
16
Coexistence of benign struma ovarii, pseudo-Meigs' syndrome and elevated serum CA 125: Case report and review of the literature. (25789033)
2015
17
Combination therapy for segmental craniocervical dystonia (Meige syndrome) with aripiprazole, trihexyphenidyl, and botulinum toxin: three cases reports. (25151364)
2015
18
METASTATIC RADIOIODINE AVID STRUMA OVARII ASSOCIATED WITH PSEUDO-MEIGS' SYNDROME. (26721055)
2015
19
Pseudo-Meigs' syndrome secondary to endodermal sinus tumour. (24359073)
2014
20
Pallidal deep brain stimulation in the treatment of Meige syndrome. (24981184)
2014
21
Pseudo-Meigs' syndrome associated with hydropic degenerating uterine leiomyoma: a case report. (24612300)
2014
22
Meigs' syndrome with elevated serum CA125 in a case of ovarian fibroma /thecoma. (24490014)
2014
23
Concentrated ascites re-infusion therapy for pseudo-Meigs' syndrome complicated by massive ascites in large pedunculated uterine leiomyoma. (25056475)
2014
24
Globus pallidus interna deep brain stimulation in a patient with medically intractable meige syndrome. (25360233)
2014
25
Meigs' syndrome with elevated serum CA 125 level in a case of ovarian fibrothecoma. (25556284)
2014
26
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
27
Large twisted ovarian fibroma associated with Meigs' syndrome, abdominal pain and severe anemia treated by laparoscopic surgery. (24962423)
2014
28
Severe inflammation may be caused by hyperferritinemia of pseudo-pseudo Meigs' syndrome in lupus patients: two cases reports and a literature review. (23959446)
2013
29
Misdiagnosis of gossypiboma as Meigs' syndrome. (23096267)
2013
30
A rare case of bilateral ovarian fibroma presenting as Meigs syndrome. (23919874)
2013
31
Long-term botulinum toxin treatment of benign essential blepharospasm, hemifacial spasm, and Meige syndrome. (23541393)
2013
32
Borderline mucinous ovarian tumor presenting as pseudo-Meigs' syndrome. (22672527)
2013
33
A rare form of SLE: pseudo-pseudo meigs syndrome and hydrocephalus. (22451030)
2013
34
A case of schizophrenia with meige syndrome induced by perospirone successfully treated with biperiden. (23487218)
2013
35
Ovarian mass, pleural effusion, and ascites: revisiting Meigs syndrome. (23328144)
2013
36
Meigs syndrome presenting with axillary vein thrombosis and lymphadenopathy: a case report. (23856407)
2013
37
Pseudo-Meigs' syndrome associated with struma ovarii. (23616325)
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
Pseudo-pseudo Meigs' syndrome in a patient with systemic lupus erythematosus. (22983642)
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
A case of pseudo-meigs' syndrome associated with ovarian metastases from breast cancer. (23346179)
2012
46
Sudden death associated with Meigs syndrome: an autopsy case report. (20634668)
2012
47
Struma ovarii, pseudo-Meigs' syndrome and raised CA125, a rare association. Answer to May e-quid. (22818078)
2012
48
Meigs' syndrome. (22472326)
2012
49
Bilateral pallidal deep brain stimulation in primary Meige syndrome. (21147544)
2011
50
Long-term clinical outcome in meige syndrome treated with internal pallidum deep brain stimulation. (21312284)
2011

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
19.4GCH1, 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 19)
idNameGO IDScoreTop Affiliating Genes
1artery morphogenesisGO:004884410.7FOXC1, FOXC2
2cardiac muscle cell proliferationGO:006003810.7FOXC1, FOXC2
3lymphangiogenesisGO:000194610.6FOXC2, SOX18
4negative regulation of apoptotic process involved in outflow tract morphogenesisGO:190225710.6FOXC1, FOXC2
5neural crest cell developmentGO:001403210.6FOXC1, FOXC2
6paraxial mesoderm formationGO:004834110.6FOXC1, FOXC2
7regulation of blood vessel sizeGO:005088010.6FOXC1, FOXC2
8negative regulation of blood pressureGO:004577610.6DRD5, GCH1
9regulation of organ growthGO:004662010.6FOXC1, FOXC2
10intermediate filament cytoskeleton organizationGO:004510410.5ATXN3, TOR1A
11blood vessel developmentGO:000156810.4FOXC1, FOXC2, SOX18
12embryonic heart tube developmentGO:003505010.4FOXC1, FOXC2, SOX18
13lymph vessel developmentGO:000194510.4FOXC1, FOXC2, SOX18
14kidney developmentGO:000182210.3FOXC1, FOXC2, GLI2
15heart developmentGO:000750710.1FOXC1, FOXC2, GLI2, SOX18
16skeletal system developmentGO:000150110.1FOXC1, FOXC2, GLI2
17ventricular cardiac muscle tissue morphogenesisGO:005501010.0FOXC1, FOXC2
18regulation of nitric-oxide synthase activityGO:00509999.9GCH1, PTS
19tetrahydrobiopterin biosynthetic processGO:00067299.7GCH1, PTS

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

idNameGO IDScoreTop Affiliating Genes
1promoter-specific chromatin bindingGO:199084110.4FOXC1, FOXC2, GLI2
2sequence-specific DNA bindingGO:00435659.8FOXC1, FOXC2, GLI2, SOX18, THAP1
3transcription regulatory region DNA bindingGO:00442129.4FOXC1, FOXC2, GLI2, SOX18

Sources for Meige Syndrome

About this section
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