LMPHM5
MCID: LYM145
MIFTS: 52

Lymphatic Malformation 5 (LMPHM5)

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

Aliases & Classifications for Lymphatic Malformation 5

MalaCards integrated aliases for Lymphatic Malformation 5:

Name: Lymphatic Malformation 5 57
Meige Syndrome 12 75 53 59 44 15
Lymphedema Praecox 57 25 74 29
Meige Lymphedema 57 25 59 74
Meige Disease 57 25 59 74
Blepharospasm-Oromandibular Dystonia Syndrome 53 59
Lymphedema, Late-Onset 57 74
Late-Onset Lymphedema 25 74
Meige Dystonia 53 59
Meigs Syndrome 59 55
Lmph2 25 74
Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome 53
Lymphedema, Hereditary, Ii, Formerly; Lmph2, Formerly 57
Blepharospasm - Oromandibular Dystonia 53
Lymphedema, Hereditary, Ii, Formerly 57
Blepharospasm-Oromandibular Dystonia 53
Hereditary Lymphedema Type Ii 59
Late-Onset Primary Lymphedema 59
Lymphedema, Hereditary, Ii 74
Segmental Cranial Dystonia 53
Lymphedema, Hereditary, 2 74
Hereditary Lymphedema Ii 25
Demons-Meigs Syndrome 59
Oral Facial Dystonia 53
Brueghel Syndrome 53
Meige's Syndrome 53
Lmph2, Formerly 57
Lmphm5 57

Characteristics:

Orphanet epidemiological data:

59
meigs syndrome
Inheritance: Not applicable; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset around puberty


HPO:

32
lymphatic malformation 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:3982
MESH via Orphanet 45 D008538
ICD10 via Orphanet 34 D27 G24.8 Q82.0
UMLS via Orphanet 73 C0025183 C0025184 C0238261 more
UMLS 72 C0025183

Summaries for Lymphatic Malformation 5

Genetics Home Reference : 25 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. Meige disease is classified as a primary lymphedema, which means it is a form of lymphedema that is not caused by other health conditions. In Meige disease, the lymphatic system abnormalities are present from birth (congenital), although the swelling is not usually apparent until puberty. The swelling often begins in the feet and ankles and progresses up the legs to the knees. Some affected individuals develop non-contagious skin infections called cellulitis or erysipelas in the legs, which can further damage the vessels that carry lymphatic fluid.

MalaCards based summary : Lymphatic Malformation 5, also known as meige syndrome, is related to lymphedema and hereditary lymphedema. An important gene associated with Lymphatic Malformation 5 is MUC16 (Mucin 16, Cell Surface Associated), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Heart Development. The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and tongue, and related phenotypes are atypical scarring of skin and cellulitis

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

NIH Rare Diseases : 53 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.

OMIM : 57 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 : 74 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 : 75 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 Rare Lymphatic Malformation

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

(show top 50) (show all 207)
# Related Disease Score Top Affiliating Genes
1 lymphedema 30.9 SOX18 FOXC2
2 hereditary lymphedema 30.5 SOX18 FOXC2 FOXC1
3 focal dystonia 30.4 TOR1A THAP1
4 yellow nail syndrome 30.3 SOX18 FOXC2
5 spasmodic dysphonia 30.2 TOR1A THAP1
6 distichiasis 30.1 FOXC2 FOXC1
7 dystonia 30.0 TOR1A THAP1 GCH1
8 blepharospasm 29.9 TOR1A THAP1 GCH1
9 oromandibular dystonia 29.8 TOR1A THAP1 GCH1
10 segmental dystonia 29.5 TOR1A THAP1 GCH1
11 cervical dystonia 29.5 TOR1A THAP1 GCH1
12 parkinson disease, late-onset 28.2 HTR2A GCH1 ATXN3
13 obsolete: late-onset primary lymphedema 12.6
14 pseudo-meigs syndrome 12.5
15 atypical meigs syndrome 12.5
16 obsolete: lymphedema praecox 12.4
17 hereditary lymphedema ii 11.8
18 blepharospasm, benign essential 11.7
19 fibroma 10.7
20 ovarian fibroma 10.6
21 struma ovarii 10.6
22 leiomyoma 10.5
23 ovarian cancer 10.5
24 primary lymphedema 10.5
25 leiomyoma, uterine 10.4
26 colorectal cancer 10.4
27 ovarian fibrothecoma 10.4
28 systemic lupus erythematosus 10.3
29 cystadenoma 10.3
30 teratoma 10.3
31 myoma 10.3
32 peritonitis 10.3
33 spasmodic dystonia 10.3 TOR1A THAP1
34 filariasis 10.3
35 cellulitis 10.3
36 elephantiasis 10.3
37 lupus erythematosus 10.2
38 dystonia 24 10.2 TOR1A THAP1
39 klippel-trenaunay-weber syndrome 10.2 SOX18 FOXC2
40 meningioma, radiation-induced 10.2
41 meningioma, familial 10.2
42 spinal meningioma 10.2
43 bell's palsy 10.2
44 secretory meningioma 10.2
45 lymphoplasmacyte-rich meningioma 10.2
46 cerebellopontine angle meningioma 10.2
47 hemifacial spasm, familial 10.2
48 teratoma, ovarian 10.2
49 goiter 10.2
50 adenocarcinoma 10.2

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:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 atypical scarring of skin 59 32 frequent (33%) Frequent (79-30%) HP:0000987
2 cellulitis 59 32 frequent (33%) Frequent (79-30%) HP:0100658
3 lymph node hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002732
4 recurrent bacterial skin infections 59 32 frequent (33%) Frequent (79-30%) HP:0005406
5 skin erosion 59 32 frequent (33%) Frequent (79-30%) HP:0200041
6 predominantly lower limb lymphedema 59 32 frequent (33%) Frequent (79-30%) HP:0003550
7 absence of lymph node germinal center 59 32 frequent (33%) Frequent (79-30%) HP:0002849
8 cobblestone-like hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0031288
9 pedal edema 32 frequent (33%) HP:0010741
10 skin dimple 32 frequent (33%) HP:0010781
11 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
12 varicose veins 59 32 occasional (7.5%) Occasional (29-5%) HP:0002619
13 periorbital edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0100539
14 edema of the dorsum of hands 59 32 occasional (7.5%) Occasional (29-5%) HP:0007514
15 pleural effusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0002202
16 peripheral edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0012398
17 facial edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000282
18 laryngeal edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0012027
19 angiosarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0200058
20 cleft palate 32 occasional (7.5%) HP:0000175
21 yellow nails 32 occasional (7.5%) HP:0011367
22 lymphedema 59 Very frequent (99-80%)
23 skin dimples 59 Frequent (79-30%)
24 recurrent skin infections 59 Frequent (79-30%)
25 edema of the lower limbs 59 Frequent (79-30%)
26 hypoplasia of lymphatic vessels 32 HP:0003759

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.65 FOXC1 FOXC2 GLI2 HTR2A SOX18
2 muscle MP:0005369 9.55 FOXC1 FOXC2 GLI2 HTR2A TOR1A
3 nervous system MP:0003631 9.5 ATXN3 FOXC1 FOXC2 GCH1 GLI2 THAP1
4 vision/eye MP:0005391 9.02 FOXC1 FOXC2 GLI2 THAP1 TOR1A

Drugs & Therapeutics for Lymphatic Malformation 5

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2 Neurotransmitter Agents Phase 4
3 abobotulinumtoxinA Phase 4
4 Cholinergic Agents Phase 4
5 Neuromuscular Agents Phase 4
6 Peripheral Nervous System Agents Phase 4
7 Acetylcholine Release Inhibitors Phase 4
8 rimabotulinumtoxinB Phase 4
9 Botulinum Toxins Phase 4
10 Botulinum Toxins, Type A Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label Evaluation of MIDI to Quantify Performance Change in Subjects With Musician's Dystonia After Treatment With Botulinum Toxin Type B (Myobloc ®). Completed NCT00208091 Phase 4 Botulinum toxin, type B
2 Blepharospasm and the Experimental Modulation of Cortical Excitability in Primary and Secondary Motor Areas. A Pilot Study. Completed NCT00411255 Phase 2

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 29

Anatomical Context for Lymphatic Malformation 5

MalaCards organs/tissues related to Lymphatic Malformation 5:

41
Skin, Brain, Tongue, Lymph Node, Ovary, Endothelial, Subthalamic Nucleus

Publications for Lymphatic Malformation 5

Articles related to Lymphatic Malformation 5:

(show top 50) (show all 151)
# Title Authors PMID Year
1
[Observations on Nonne-Milroy-Meige syndrome]. 38 8
14482593 1961
2
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. 8
24744435 2014
3
Long-term botulinum toxin treatment of benign essential blepharospasm, hemifacial spasm, and Meige syndrome. 38 6
23541393 2013
4
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. 8
23410910 2013
5
Long-term clinical outcome in meige syndrome treated with internal pallidum deep brain stimulation. 38 6
21312284 2011
6
Long-term follow-up of deep brain stimulation for Meige syndrome. 38 6
20672922 2010
7
Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. 8
18197197 2008
8
Truncating mutations in FOXC2 cause multiple lymphedema syndromes. 8
11371511 2001
9
Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications. 8
7747790 1995
10
Hereditary late-onset lymphedema with pleural effusion and laryngeal edema. 8
6679236 1983
11
Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature. 8
6342849 1983
12
Familial lymphedema praecox: Meige's disease. 8
7232571 1981
13
[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission]. 8
295075 1979
14
Primary pulmonary hypertension, cerebrovascular malformation, and lymphoedema feet in a family. 8
5718986 1968
15
Yellow nails, lymphoedema, and pleural effusions. 8
5914998 1966
16
[Hereditary lymphedema, Meige type]. 8
13957940 1963
17
Deep brain stimulation for Meige syndrome: a meta-analysis with individual patient data. 38
31302747 2019
18
Predictive factors for long-term clinical outcomes of deep brain stimulation in the treatment of primary Meige syndrome. 38
30952124 2019
19
Remission in dystonia - Systematic review of the literature and meta-analysis. 38
30898428 2019
20
Clinical experience with patients with spasmodic dysphonia and primary Meige syndrome. 38
29716720 2019
21
Post-operative electrode location and clinical efficacy of subthalamic nucleus deep brain stimulation in Meige syndrome. 38
30217540 2019
22
Interleaving programming in pallidal deep brain stimulation improves outcomes in a patient with Meige syndrome. 38
30526116 2018
23
The impact of deep brain stimulation on health related quality of life and disease-specific disability in Meige Syndrome (MS). 38
29807200 2018
24
Bilateral deep brain stimulation of the subthalamic nucleus in primary Meige syndrome. 38
28548593 2018
25
Long-term outcome of pallidal stimulation for Meige syndrome. 38
29350600 2018
26
Brueghel Syndrome or Meige Syndrome? Two Sides of a Same Disease. 38
29145188 2018
27
Long-term clinical outcome of bilateral pallidal stimulation for intractable craniocervical dystonia (Meige syndrome). Report of 6 patients. 38
29246604 2017
28
Bilateral pallidotomy for Meige syndrome. 38
28424916 2017
29
Speech-Language Pathology Evaluation and Management of Hyperkinetic Disorders Affecting Speech and Swallowing Function. 38
28983422 2017
30
Deep Brain Stimulation for Craniocervical Dystonia (Meige Syndrome): A Report of Four Patients and a Literature-Based Analysis of Its Treatment Effects. 38
26399458 2016
31
Marked Improvement of Meige Syndrome in a Japanese Male Patient with Schizophrenia After Switching from Risperidone to Paliperidone: A Case Report. 38
27627971 2016
32
A Case Report of Psychoactive Drugs Aggravating and Alleviating Meige Syndrome. 38
28638194 2016
33
Application of electrophysiological methods and magnetic resonance tomographic angiography in the differentiation between hemifacial spasm and Meige syndrome. 38
26838523 2016
34
A tropical menace of co-infection of Japanese encephalitis and neurocysticercosis in two children. 38
27606026 2016
35
Tardive Blepharospasm and Meige Syndrome during Treatment with Quetiapine and Olanzapine. 38
28360708 2015
36
[Bilateral chronic dislocation of the temporomandibular joints and Meige syndrome]. 38
25742702 2015
37
Combination therapy for segmental craniocervical dystonia (Meige syndrome) with aripiprazole, trihexyphenidyl, and botulinum toxin: three cases reports. 38
25151364 2015
38
[Clinical and genetic study of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease]. 38
25636101 2015
39
[Case of Meige syndrome]. 38
25876345 2014
40
Globus pallidus interna deep brain stimulation in a patient with medically intractable meige syndrome. 38
25360233 2014
41
[Case of Meige syndrome]. 38
25233648 2014
42
[Case of Meige syndrome]. 38
24673055 2014
43
Pallidal deep brain stimulation in the treatment of Meige syndrome. 38
24981184 2014
44
A case of schizophrenia with meige syndrome induced by perospirone successfully treated with biperiden. 38
23487218 2013
45
Dementia with lewy bodies in meige syndrome. 38
22984651 2012
46
Efficacy of zolpidem for dystonia: a study among different subtypes. 38
22529836 2012
47
Meige syndrome relieved by bilateral pallidal stimulation with cycling mode: case report. 38
21712740 2011
48
[Deep brain stimulation in the treatment of torticollis and Meige syndrome]. 38
22212990 2011
49
Novel THAP1 gene mutations in patients with primary dystonia from southwest China. 38
21839475 2011
50
Bilateral pallidal deep brain stimulation in primary Meige syndrome. 38
21147544 2011

Variations for Lymphatic Malformation 5

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
Show member pathways
11.61 GLI2 FOXC2 FOXC1
2 10.29 FOXC2 FOXC1

GO Terms for Lymphatic Malformation 5

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.88 SOX18 GLI2 FOXC2 FOXC1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.83 THAP1 SOX18 GLI2 FOXC2 FOXC1
3 in utero embryonic development GO:0001701 9.75 SOX18 GLI2 FOXC1
4 skeletal system development GO:0001501 9.7 GLI2 FOXC2 FOXC1
5 kidney development GO:0001822 9.65 GLI2 FOXC2 FOXC1
6 camera-type eye development GO:0043010 9.63 FOXC2 FOXC1
7 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.63 FOXC2 FOXC1
8 odontogenesis of dentin-containing tooth GO:0042475 9.62 GLI2 FOXC1
9 somitogenesis GO:0001756 9.62 FOXC2 FOXC1
10 heart development GO:0007507 9.62 SOX18 GLI2 FOXC2 FOXC1
11 heart morphogenesis GO:0003007 9.61 FOXC2 FOXC1
12 collagen fibril organization GO:0030199 9.61 FOXC2 FOXC1
13 ureteric bud development GO:0001657 9.6 FOXC2 FOXC1
14 blood vessel remodeling GO:0001974 9.59 FOXC2 FOXC1
15 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.57 FOXC2 FOXC1
16 intermediate filament cytoskeleton organization GO:0045104 9.56 TOR1A ATXN3
17 neural crest cell development GO:0014032 9.55 FOXC2 FOXC1
18 artery morphogenesis GO:0048844 9.54 FOXC2 FOXC1
19 regulation of blood vessel size GO:0050880 9.51 FOXC2 FOXC1
20 cardiac muscle cell proliferation GO:0060038 9.49 FOXC2 FOXC1
21 lymphangiogenesis GO:0001946 9.46 SOX18 FOXC2
22 blood vessel development GO:0001568 9.43 SOX18 FOXC2 FOXC1
23 regulation of organ growth GO:0046620 9.4 FOXC2 FOXC1
24 paraxial mesoderm formation GO:0048341 9.37 FOXC2 FOXC1
25 negative regulation of apoptotic process involved in outflow tract morphogenesis GO:1902257 9.16 FOXC2 FOXC1
26 embryonic heart tube development GO:0035050 9.13 SOX18 FOXC2 FOXC1
27 lymph vessel development GO:0001945 8.8 SOX18 FOXC2 FOXC1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.72 THAP1 SOX18 GLI2 FOXC2 FOXC1
2 DNA-binding transcription factor activity GO:0003700 9.67 SOX18 GLI2 FOXC2 FOXC1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 THAP1 SOX18 GLI2 FOXC2
4 sequence-specific DNA binding GO:0043565 9.55 THAP1 SOX18 GLI2 FOXC2 FOXC1
5 transcription regulatory region DNA binding GO:0044212 9.26 SOX18 GLI2 FOXC2 FOXC1
6 promoter-specific chromatin binding GO:1990841 8.8 GLI2 FOXC2 FOXC1

Sources for Lymphatic Malformation 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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