MCID: MGS004
MIFTS: 43

Meige Syndrome malady

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

Aliases & Classifications for Meige Syndrome

Aliases & Descriptions for Meige Syndrome:

Name: Meige Syndrome 12 50 56 42 14 69
Meigs Syndrome 56 52 69
Blepharospasm-Oromandibular Dystonia Syndrome 50 56
Meige Dystonia 50 56
Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome 50
Blepharospasm - Oromandibular Dystonia 50
Blepharospasm-Oromandibular Dystonia 50
Segmental Cranial Dystonia 50
Demons-Meigs Syndrome 56
Oral Facial Dystonia 50
Brueghel Syndrome 50
Meige's Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
meigs syndrome
Inheritance: Not applicable; Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:3982
MeSH 42 D008538
SNOMED-CT 64 230325003
ICD10 via Orphanet 34 D27 G24.8
UMLS via Orphanet 70 C0025184
UMLS 69 C0025183

Summaries for Meige Syndrome

NIH Rare Diseases : 50 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/superpathways is Folate biosynthesis. The drug Dihydroxyphenylalanine has been mentioned in the context of this disorder. Affiliated tissues include brain, tongue and ovary, and related phenotypes are nervous system and muscle

Disease Ontology : 12 A cranio-facial dystonia that is accompanied by blepharospasm.

Related Diseases for Meige Syndrome

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)
id Related Disease Score Top Affiliating Genes
1 oromandibular dystonia 29.8 DRD5 GCH1 TOR1A
2 cervical dystonia 29.5 GCH1 SGCE TOR1A
3 pseudo-meigs syndrome 12.0
4 atypical meigs syndrome 12.0
5 blepharospasm, primary benign 10.8
6 hereditary lymphedema 10.8
7 spastic paraplegia 15 10.3 THAP1 TOR1A
8 ectodermal dysplasia blindness 10.3 THAP1 TOR1A
9 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria 10.2 FOXC1 FOXC2
10 oculodentodigital dysplasia 10.2 FOXC2 GJC2 SOX18
11 sleep apnea 10.2 THAP1 TOR1A
12 congenital generalized lipodystrophy 10.2 FOXC1 FOXC2 GJC2
13 lymphoma, large-cell, immunoblastic 10.2 FOXC2 GJC2 SOX18
14 struma ovarii 10.2
15 microcephaly 12, primary, autosomal recessive 10.2 SGCE TOR1A
16 leiomyoma 10.2
17 fibroma 10.2
18 spastic paraplegia 44, autosomal recessive 10.2 GCH1 GJC2 TOR1A
19 hemidystonia 10.2 GCH1 THAP1 TOR1A
20 ulcerative blepharitis 10.1 DRD5 KANTR
21 diabetes and deafness, maternally inherited 10.1 KANTR TOR1A
22 blepharospasm 10.1
23 corneal neovascularization 10.1 CAMP KANTR
24 localized chondrosarcoma 10.1 KANTR PKDREJ
25 pituitary gland disease 10.1 DRD5 GCH1 THAP1 TOR1A
26 cavernous hemangioma 10.1 GCH1 SGCE TOR1A
27 coronary artery dissection, spontaneous 10.1 FOXC2 SOX18
28 cranio-facial dystonia 10.1 GCH1 KANTR
29 testicular yolk sac tumor 10.0 CAMP KANTR
30 ovarian fibroma 10.0
31 halal setton wang syndrome 10.0 GCH1 PTS
32 focal hand dystonia 10.0 GCH1 SGCE THAP1 TOR1A
33 oculogyric crisis 10.0 CAMP KANTR
34 dystonia 10.0
35 capos syndrome 10.0 GCH1 SGCE THAP1 TOR1A
36 spasmodic dystonia 10.0 CAMP DRD5 THAP1 TOR1A
37 eccrine acrospiroma 10.0 GCH1 SGCE THAP1 TOR1A
38 acute serous otitis media 10.0 CAMP KANTR
39 alpha thalassemia-x-linked intellectual disability syndrome 10.0 GCH1 SGCE THAP1 TOR1A
40 ampulla of vater adenosquamous carcinoma 9.9 CAMP KANTR
41 anismus 9.9 DRD5 GCH1 SGCE THAP1 TOR1A
42 peritonitis 9.9
43 schizophrenia 9.8
44 systemic lupus erythematosus 9.8
45 breast cancer 9.8
46 cystadenoma 9.8
47 adenocarcinoma 9.8
48 lupus erythematosus 9.8
49 ovarian germ cell tumor 9.8
50 hemifacial spasm 9.8

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



Diseases related to Meige Syndrome

Symptoms & Phenotypes for Meige Syndrome

UMLS symptoms related to Meige Syndrome:


torticollis

MGI Mouse Phenotypes related to Meige Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.81 FOXC2 GJC2 GLI2 PTS SGCE TOR1A
2 muscle MP:0005369 9.8 FOXC1 FOXC2 GLI2 HTR2A PTS SGCE
3 normal MP:0002873 9.5 DRD5 FOXC1 FOXC2 GJC2 GLI2 SOX18
4 vision/eye MP:0005391 9.17 CAMP DRD5 FOXC1 FOXC2 GJC2 GLI2

Drugs & Therapeutics for Meige Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dihydroxyphenylalanine

Interventional clinical trials:


id Name Status NCT ID Phase
1 Brain Stimulation to Treat Blepharospasm or Meige Syndrome Completed NCT00411255 Phase 2
2 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424

Search NIH Clinical Center for Meige Syndrome

Cochrane evidence based reviews: meige syndrome

Genetic Tests for Meige Syndrome

Anatomical Context for Meige Syndrome

MalaCards organs/tissues related to Meige Syndrome:

39
Brain, Tongue, Ovary, Colon, Breast, Endothelial, Smooth Muscle

Publications for Meige Syndrome

Articles related to Meige Syndrome:

(show top 50) (show all 259)
id Title Authors Year
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

Expression for Meige Syndrome

Search GEO for disease gene expression data for Meige Syndrome.

Pathways for Meige Syndrome

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

id Super pathways Score Top Affiliating Genes
1 9.83 GCH1 PTS

GO Terms for Meige Syndrome

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.75 FOXC1 FOXC2 GLI2
2 heart development GO:0007507 9.71 FOXC1 FOXC2 GLI2 SOX18
3 kidney development GO:0001822 9.67 FOXC1 FOXC2 GLI2
4 negative regulation of blood pressure GO:0045776 9.58 DRD5 GCH1
5 regulation of nitric-oxide synthase activity GO:0050999 9.57 GCH1 PTS
6 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.56 FOXC1 FOXC2
7 artery morphogenesis GO:0048844 9.55 FOXC1 FOXC2
8 neural crest cell development GO:0014032 9.54 FOXC1 FOXC2
9 intermediate filament cytoskeleton organization GO:0045104 9.52 ATXN3 TOR1A
10 regulation of blood vessel size GO:0050880 9.51 FOXC1 FOXC2
11 cardiac muscle cell proliferation GO:0060038 9.48 FOXC1 FOXC2
12 lymphangiogenesis GO:0001946 9.46 FOXC2 SOX18
13 regulation of organ growth GO:0046620 9.43 FOXC1 FOXC2
14 blood vessel development GO:0001568 9.43 FOXC1 FOXC2 SOX18
15 tetrahydrobiopterin biosynthetic process GO:0006729 9.37 GCH1 PTS
16 paraxial mesoderm formation GO:0048341 9.32 FOXC1 FOXC2
17 negative regulation of apoptotic process involved in outflow tract morphogenesis GO:1902257 9.16 FOXC1 FOXC2
18 embryonic heart tube development GO:0035050 9.13 FOXC1 FOXC2 SOX18
19 lymph vessel development GO:0001945 8.8 FOXC1 FOXC2 SOX18

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.55 FOXC1 FOXC2 GLI2 SOX18 THAP1
2 transcription regulatory region DNA binding GO:0044212 9.26 FOXC1 FOXC2 GLI2 SOX18
3 promoter-specific chromatin binding GO:1990841 8.8 FOXC1 FOXC2 GLI2

Sources for Meige Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....