LMPH2
MCID: LYM145
MIFTS: 51

Lymphatic Malformation 5 (LMPH2)

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Lymphatic Malformation 5

MalaCards integrated aliases for Lymphatic Malformation 5:

Name: Lymphatic Malformation 5 58
Meige Syndrome 12 77 54 60 45 15
Lymphedema Praecox 58 26 76 30
Meige Lymphedema 58 26 76
Meige Disease 58 26 76
Blepharospasm-Oromandibular Dystonia Syndrome 54 60
Lymphedema, Late-Onset 58 76
Late-Onset Lymphedema 26 76
Meige Dystonia 54 60
Meigs Syndrome 60 56
Lmph2 26 76
Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome 54
Lymphedema, Hereditary, Ii, Formerly; Lmph2, Formerly 58
Blepharospasm - Oromandibular Dystonia 54
Lymphedema, Hereditary, Ii, Formerly 58
Blepharospasm-Oromandibular Dystonia 54
Lymphedema, Hereditary, Ii 76
Segmental Cranial Dystonia 54
Lymphedema, Hereditary, 2 76
Hereditary Lymphedema Ii 26
Demons-Meigs Syndrome 60
Oral Facial Dystonia 54
Brueghel Syndrome 54
Meige's Syndrome 54
Lmph2, Formerly 58
Lmphm5 58

Characteristics:

Orphanet epidemiological data:

60
meigs syndrome
Inheritance: Not applicable; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset around puberty


HPO:

33
lymphatic malformation 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:3982
OMIM 58 153200
ICD10 via Orphanet 35 D27 G24.8
UMLS via Orphanet 75 C0025183 C0025184
MedGen 43 C0238261
UMLS 74 C0025183

Summaries for Lymphatic Malformation 5

NIH Rare Diseases : 54 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.

MalaCards based summary : Lymphatic Malformation 5, also known as meige syndrome, is related to yellow nail syndrome and blepharospasm. An important gene associated with Lymphatic Malformation 5 is MUC16 (Mucin 16, Cell Surface Associated), and among its related pathways/superpathways is Heart Development. The drug Dihydroxyphenylalanine has been mentioned in the context of this disorder. Affiliated tissues include brain, skin and tongue, and related phenotypes are cleft palate and yellow nails

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

Genetics Home Reference : 26 Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnormally, it causes swelling (lymphedema) in the lower limbs.

OMIM : 58 Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of the genetic heterogeneity of lymphocytic malformation, see 153100. (153200)

UniProtKB/Swiss-Prot : 76 Lymphedema, hereditary, 2: A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment.

Wikipedia : 77 Meige''s syndrome is a type of dystonia. It is also known as Brueghel''s syndrome and oral facial... more...

Related Diseases for Lymphatic Malformation 5

Diseases in the Lymphatic Malformations family:

Lymphatic Malformation 1 Lymphatic Malformation 5
Lymphatic Malformation 2 Lymphatic Malformation 3
Lymphatic Malformation 4 Lymphatic Malformation 6
Lymphatic Malformation 7

Diseases related to Lymphatic Malformation 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 yellow nail syndrome 30.5 FOXC2 SOX18
2 blepharospasm 30.3 TOR1A THAP1 GCH1 CAMP
3 spasmodic dysphonia 30.3 TOR1A THAP1
4 lymphedema 30.3 FOXC2 SOX18
5 dystonia 29.8 GCH1 THAP1 TOR1A
6 oromandibular dystonia 29.7 TOR1A THAP1 GCH1 CAMP
7 cervical dystonia 29.7 TOR1A THAP1 GCH1 CAMP
8 segmental dystonia 29.5 TOR1A THAP1 GCH1 CAMP
9 pseudo-meigs syndrome 12.3
10 atypical meigs syndrome 12.3
11 hereditary lymphedema ii 11.6
12 blepharospasm, benign essential 11.5
13 leiomyoma 10.5
14 struma ovarii 10.5
15 fibroma 10.4
16 ovarian fibroma 10.3
17 leiomyoma, uterine 10.3
18 elephantiasis 10.2
19 multifocal dystonia 10.2 TOR1A CAMP
20 ovarian cancer 10.2
21 ovarian cancer 1 10.2
22 distichiasis 10.2 FOXC1 FOXC2
23 cerebellopontine angle meningioma 10.2
24 anal spasm 10.2 KANTR CAMP
25 dystonia 24 10.2 THAP1 TOR1A
26 syngnathia 10.2 FOXC1 FOXC2
27 paraphimosis 10.1 CAMP KANTR
28 oculomotor nerve paralysis 10.1 CAMP KANTR
29 third cranial nerve disease 10.1 CAMP KANTR
30 systemic lupus erythematosus 10.1
31 lupus erythematosus 10.1
32 anismus 10.1 CAMP KANTR
33 adie pupil 10.1 TOR1A KANTR
34 dystonia 3, torsion, x-linked 10.1 GCH1 THAP1
35 klippel-trenaunay-weber syndrome 10.1 FOXC2 SOX18
36 venous malformations, multiple cutaneous and mucosal 10.1 FOXC2 SOX18
37 nevus, epidermal 10.1
38 xanthomatosis 10.1
39 pulmonary hypertension 10.1
40 papilloma 10.1
41 hereditary lymphedema 10.1 SOX18 FOXC2 FOXC1
42 spasmodic dystonia 10.1 TOR1A THAP1 CAMP
43 focal hand dystonia 10.1 TOR1A THAP1 CAMP
44 breast cancer 10.1
45 schizophrenia 10.1
46 ovarian germ cell cancer 10.1
47 hemangioma 10.1
48 cystadenoma 10.1
49 germ cells tumors 10.1
50 hemifacial spasm 10.1

Graphical network of the top 20 diseases related to Lymphatic Malformation 5:



Diseases related to Lymphatic Malformation 5

Symptoms & Phenotypes for Lymphatic Malformation 5

Human phenotypes related to Lymphatic Malformation 5:

33
# Description HPO Frequency HPO Source Accession
1 cleft palate 33 occasional (7.5%) HP:0000175
2 yellow nails 33 occasional (7.5%) HP:0011367
3 facial edema 33 occasional (7.5%) HP:0000282
4 predominantly lower limb lymphedema 33 HP:0003550
5 hypoplasia of lymphatic vessels 33 HP:0003759

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
cleft palate (in some patients)

Head And Neck Face:
facial swelling (in some patients)

Muscle Soft Tissue:
lymphedema, predominantly in the lower limbs
paucity or absence of lymph nodes in the axillae and above the inguinal ligaments seen on scintilymphangiography

Skin Nails Hair Nails:
yellow nails (in some patients)

Clinical features from OMIM:

153200

MGI Mouse Phenotypes related to Lymphatic Malformation 5:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.35 FOXC1 FOXC2 GLI2 HTR2A SOX18
2 vision/eye MP:0005391 9.1 CAMP FOXC1 FOXC2 GLI2 THAP1 TOR1A

Drugs & Therapeutics for Lymphatic Malformation 5

Drugs for Lymphatic Malformation 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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 Lymphatic Malformation 5

Cochrane evidence based reviews: meige syndrome

Genetic Tests for Lymphatic Malformation 5

Genetic tests related to Lymphatic Malformation 5:

# Genetic test Affiliating Genes
1 Lymphedema Praecox 30

Anatomical Context for Lymphatic Malformation 5

MalaCards organs/tissues related to Lymphatic Malformation 5:

42
Brain, Skin, Tongue, Lymph Node, Subthalamic Nucleus, Thyroid, Globus Pallidus

Publications for Lymphatic Malformation 5

Articles related to Lymphatic Malformation 5:

(show top 50) (show all 75)
# Title Authors Year
1
Long-term outcome of pallidal stimulation for Meige syndrome. ( 29350600 )
2018
2
Clinical experience with patients with spasmodic dysphonia and primary Meige syndrome. ( 29716720 )
2018
3
The impact of deep brain stimulation on health related quality of life and disease-specific disability in Meige Syndrome (MS). ( 29807200 )
2018
4
Brueghel Syndrome or Meige Syndrome? Two Sides of a Same Disease. ( 29145188 )
2018
5
Post-operative electrode location and clinical efficacy of subthalamic nucleus deep brain stimulation in Meige syndrome. ( 30217540 )
2018
6
Interleaving programming in pallidal deep brain stimulation improves outcomes in a patient with Meige syndrome. ( 30526116 )
2018
7
Bilateral deep brain stimulation of the subthalamic nucleus in primary Meige syndrome. ( 28548593 )
2017
8
Bilateral pallidotomy for Meige syndrome. ( 28424916 )
2017
9
Long-term clinical outcome of bilateral pallidal stimulation for intractable craniocervical dystonia (Meige syndrome). Report of 6 patients. ( 29246604 )
2017
10
Marked Improvement of Meige Syndrome in a Japanese Male Patient with Schizophrenia After Switching from Risperidone to Paliperidone: A Case Report. ( 27627971 )
2016
11
A Case Report of Psychoactive Drugs Aggravating and Alleviating Meige Syndrome. ( 28638194 )
2016
12
Application of electrophysiological methodsA and magnetic resonance tomographic angiography in the differentiation between hemifacial spasm and Meige syndrome. ( 26838523 )
2016
13
Combination therapy for segmental craniocervical dystonia (Meige syndrome) with aripiprazole, trihexyphenidyl, and botulinum toxin: three cases reports. ( 25151364 )
2015
14
Deep Brain Stimulation for Craniocervical Dystonia (Meige Syndrome): A Report of Four Patients and a Literature-Based Analysis of Its Treatment Effects. ( 26399458 )
2015
15
Tardive Blepharospasm and Meige Syndrome during Treatment with Quetiapine and Olanzapine. ( 28360708 )
2015
16
Globus pallidus interna deep brain stimulation in a patient with medically intractable meige syndrome. ( 25360233 )
2014
17
Pallidal deep brain stimulation in the treatment of Meige syndrome. ( 24981184 )
2014
18
Long-term botulinum toxin treatment of benign essential blepharospasm, hemifacial spasm, and Meige syndrome. ( 23541393 )
2013
19
A case of schizophrenia with meige syndrome induced by perospirone successfully treated with biperiden. ( 23487218 )
2013
20
Dementia with lewy bodies in meige syndrome. ( 22984651 )
2012
21
Meige syndrome relieved by bilateral pallidal stimulation with cycling mode: case report. ( 21712740 )
2011
22
Effectiveness of unilateral pallidotomy for meige syndrome confirmed by motion analysis. ( 21494067 )
2011
23
Spasmodic dysphonia in Meige syndrome responding to clonazepam. ( 21921402 )
2011
24
A case of schizophrenia with Meige syndrome induced by long-term aripiprazole successfully treated with perospirone. ( 20849906 )
2011
25
Long-term clinical outcome in meige syndrome treated with internal pallidum deep brain stimulation. ( 21312284 )
2011
26
Bilateral pallidal deep brain stimulation in primary Meige syndrome. ( 21147544 )
2011
27
Long-term follow-up of deep brain stimulation for Meige syndrome. ( 20672922 )
2010
28
Long-term suppression of Meige syndrome after pallidal stimulation: a 10-year follow-up study. ( 20589876 )
2010
29
Orbicularis oculi myo-osseous fixation: a new treatment for benign essential blepharospasm and blepharospasm associated with diffuse facial dystonia (meige syndrome). ( 20507022 )
2010
30
Outcome of pallidal deep brain stimulation in meige syndrome. ( 20856662 )
2010
31
Low-voltage bilateral pallidal stimulation for severe meige syndrome in a patient with primary segmental dystonia: case report. ( 20729656 )
2010
32
Meige syndrome: what's in a name? ( 19457699 )
2009
33
Successful treatment of the Meige syndrome with oral zolpidem monotherapy. ( 18581473 )
2008
34
Meige syndrome: a rare form of cranial dystonia that was treated successfully with botulinum toxin. ( 18346825 )
2008
35
Pallidal deep brain stimulation in the treatment of Meige syndrome. ( 18336624 )
2008
36
Pallidal deep brain stimulation in patients with cranial-cervical dystonia (Meige syndrome). ( 17618522 )
2007
37
Successful bilateral pallidal stimulation for Meige syndrome and spasmodic torticollis. ( 16505291 )
2006
38
Meige syndrome and pallidal deep brain stimulation. ( 15954126 )
2005
39
A randomized, placebo-controlled, crossover clinical trial of super blue-green algae in patients with essential blepharospasm or Meige syndrome. ( 15234278 )
2004
40
Lidocaine tape (Penles) reduces the pain of botulinum toxin injection for Meige syndrome. ( 15488799 )
2004
41
Bilateral pallidal stimulation for blepharospasm-oromandibular dystonia (Meige syndrome). ( 12821763 )
2003
42
Meige syndrome with apraxia of lid opening after the discontinuation of sulpiride treatment. ( 12163987 )
2002
43
Meige syndrome secondary to basal ganglia injury: a potential cause of acute respiratory distress. ( 11383945 )
2001
44
Bilateral pallidal stimulation for idiopathic segmental axial dystonia advanced from Meige syndrome refractory to bilateral thalamotomy. ( 11481713 )
2001
45
Effect of clonazepam treatment on antipsychotic drug-induced Meige syndrome and changes in plasma levels of GABA, HVA, and MHPG during treatment. ( 11555353 )
2001
46
Conjunctival edema and alopecia of the external third of the eyebrows in a patient with Meige syndrome. ( 10664061 )
2000
47
Myasthenia gravis after botulinum toxin A for Meige syndrome. ( 10928589 )
2000
48
Spontaneous remission in patients with essential blepharospasm and Meige syndrome. ( 9744377 )
1998
49
Botulinum A toxin treatment for blepharospasm and Meige syndrome: report of 100 patients. ( 9078810 )
1997
50
Treatment selections of 239 patients with blepharospasm and Meige syndrome over 11 years. ( 9059273 )
1996

Variations for Lymphatic Malformation 5

Cosmic variations for Lymphatic Malformation 5:

9 (show all 17)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM3929935 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.1442G>T p.G481V 9:136517385-136517385 0
2 COSM4593097 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.1712A>C p.D571A 9:136515674-136515674 0
3 COSM5881401 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.5335A>T p.S1779C 9:136502321-136502321 0
4 COSM5609593 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.5414T>C p.L1805P 9:136502059-136502059 0
5 COSM5881392 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.4983G>A p.R1661R 9:136504708-136504708 0
6 COSM5881393 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.742G>A p.G248S 9:136522850-136522850 0
7 COSM5881382 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.4616A>C p.H1539P 9:136505075-136505075 0
8 COSM5881385 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.4645T>C p.C1549R 9:136505046-136505046 0
9 COSM5881383 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.6446T>C p.L2149P 9:136497293-136497293 0
10 COSM5881361 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.3344T>C p.L1115P 9:136508121-136508121 0
11 COSM5881372 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.4592T>C p.L1531P 9:136505099-136505099 0
12 COSM5881381 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.7372C>A p.P2458T 9:136496367-136496367 0
13 COSM138741 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.1549C>T p.P517S 9:136517278-136517278 0
14 COSM5881425 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.5360T>C p.L1787P 9:136502296-136502296 0
15 COSM5881384 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.5783G>A p.G1928D 9:136500704-136500704 0
16 COSM3215832 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.6788G>A p.R2263Q 9:136496951-136496951 0
17 COSM5881387 NOTCH1 upper aerodigestive tract,tongue,other,dysplasia c.1550C>T p.P517L 9:136517277-136517277 0

Expression for Lymphatic Malformation 5

Search GEO for disease gene expression data for Lymphatic Malformation 5.

Pathways for Lymphatic Malformation 5

Pathways related to Lymphatic Malformation 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.29 FOXC1 FOXC2

GO Terms for Lymphatic Malformation 5

Biological processes related to Lymphatic Malformation 5 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.89 FOXC1 FOXC2 GLI2 SOX18
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.89 FOXC1 FOXC2 GLI2 SOX18 THAP1
3 in utero embryonic development GO:0001701 9.75 FOXC1 GLI2 SOX18
4 skeletal system development GO:0001501 9.7 FOXC1 FOXC2 GLI2
5 kidney development GO:0001822 9.63 FOXC1 FOXC2 GLI2
6 somitogenesis GO:0001756 9.62 FOXC1 FOXC2
7 heart development GO:0007507 9.62 FOXC1 FOXC2 GLI2 SOX18
8 heart morphogenesis GO:0003007 9.61 FOXC1 FOXC2
9 collagen fibril organization GO:0030199 9.61 FOXC1 FOXC2
10 ureteric bud development GO:0001657 9.6 FOXC1 FOXC2
11 blood vessel remodeling GO:0001974 9.58 FOXC1 FOXC2
12 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.57 FOXC1 FOXC2
13 intermediate filament cytoskeleton organization GO:0045104 9.56 ATXN3 TOR1A
14 artery morphogenesis GO:0048844 9.55 FOXC1 FOXC2
15 neural crest cell development GO:0014032 9.54 FOXC1 FOXC2
16 regulation of blood vessel size GO:0050880 9.51 FOXC1 FOXC2
17 cardiac muscle cell proliferation GO:0060038 9.48 FOXC1 FOXC2
18 lymphangiogenesis GO:0001946 9.43 FOXC2 SOX18
19 blood vessel development GO:0001568 9.43 FOXC1 FOXC2 SOX18
20 regulation of organ growth GO:0046620 9.4 FOXC1 FOXC2
21 paraxial mesoderm formation GO:0048341 9.37 FOXC1 FOXC2
22 negative regulation of apoptotic process involved in outflow tract morphogenesis GO:1902257 9.16 FOXC1 FOXC2
23 embryonic heart tube development GO:0035050 9.13 FOXC1 FOXC2 SOX18
24 lymph vessel development GO:0001945 8.8 FOXC1 FOXC2 SOX18

Molecular functions related to Lymphatic Malformation 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 FOXC2 GLI2 SOX18 THAP1
2 sequence-specific DNA binding GO:0043565 9.55 FOXC1 FOXC2 GLI2 SOX18 THAP1
3 transcription regulatory region DNA binding GO:0044212 9.26 FOXC1 FOXC2 GLI2 SOX18
4 promoter-specific chromatin binding GO:1990841 8.8 FOXC1 FOXC2 GLI2

Sources for Lymphatic Malformation 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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