LMPH2
MCID: LYM130
MIFTS: 53

Lymphedema, Hereditary, Ii (LMPH2)

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

Aliases & Classifications for Lymphedema, Hereditary, Ii

MalaCards integrated aliases for Lymphedema, Hereditary, Ii:

Name: Lymphedema, Hereditary, Ii 57 53 75
Meige Syndrome 12 76 53 59 44 15 73
Lymphedema Praecox 57 53 25 75 29 73
Meige Lymphedema 57 12 53 25 75
Meige Disease 57 12 53 25 75
Lmph2 57 12 25 75
Hereditary Lymphedema Ii 12 25 15
Lymphedema, Late-Onset 57 53 75
Late-Onset Lymphedema 12 25 75
Meigs Syndrome 59 55 73
Blepharospasm-Oromandibular Dystonia Syndrome 53 59
Hereditary Lymphedema Type Ii 53 73
Lymphedema Hereditary Type 2 76 53
Meige Dystonia 53 59
Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome 53
Blepharospasm - Oromandibular Dystonia 53
Blepharospasm-Oromandibular Dystonia 53
Segmental Cranial Dystonia 53
Lymphedema, Hereditary, 2 75
Demons-Meigs Syndrome 59
Oral Facial Dystonia 53
Lymphedema Preacox 12
Brueghel Syndrome 53
Meige's Syndrome 53

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
lymphedema, hereditary, ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 153200
Disease Ontology 12 DOID:0070213 DOID:3982
ICD10 via Orphanet 34 D27 G24.8
UMLS via Orphanet 74 C0025184 C0025183
MedGen 42 C0238261

Summaries for Lymphedema, Hereditary, Ii

NIH Rare Diseases : 53 Hereditary lymphedema type II is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid). While the cause of hereditary lymphedema type II is unknown, it is thought to be genetic because it tends to run in families. It appears to have an autosomal dominant pattern of inheritance.

MalaCards based summary : Lymphedema, Hereditary, Ii, also known as meige syndrome, is related to hereditary lymphedema and yellow nail syndrome, and has symptoms including torticollis An important gene associated with Lymphedema, Hereditary, Ii is DRD5 (Dopamine Receptor D5). The drugs Propranolol and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and lymph node, and related phenotypes are cleft palate and yellow nails

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

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.

UniProtKB/Swiss-Prot : 75 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 : 76 Meige lymphedema, also known as Meige disease, Late-onset lymphedema, and Lymphedema hereditary type 2,... more...

Description from OMIM: 153200

Related Diseases for Lymphedema, Hereditary, Ii

Diseases in the Lymphedema family:

Lymphedema, Hereditary, Ia Lymphedema, Hereditary, Ii
Lymphedema, Congenital Recessive Lymphedema, Hereditary, Ib
Lymphedema, Hereditary, Ic Lymphedema, Hereditary, Id
Lymphedema, Hereditary, Iii Hereditary Lymphedema
Hereditary Lymphedema I Congenital Lymphedema

Diseases related to Lymphedema, Hereditary, Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 hereditary lymphedema 31.9 SOX18 FOXC2 FOXC1
2 yellow nail syndrome 30.5 FOXC2 SOX18
3 blepharospasm 30.4 TOR1A THAP1 GCH1 DRD5 CAMP
4 spasmodic dysphonia 30.2 TOR1A THAP1
5 oromandibular dystonia 29.9 TOR1A THAP1 GCH1 CAMP
6 cervical dystonia 29.8 TOR1A THAP1 GCH1 DRD5 CAMP
7 segmental dystonia 29.7 TOR1A THAP1 GCH1 CAMP
8 dystonia 29.5 TOR1A THAP1 GCH1 DRD5 ATXN3
9 pseudo-meigs syndrome 12.3
10 atypical meigs syndrome 12.3
11 blepharospasm, benign essential 11.4
12 hereditary lymphedema i 11.1
13 lymphedema 10.6
14 struma ovarii 10.4
15 leiomyoma 10.4
16 ovarian fibroma 10.3
17 leiomyoma, uterine 10.3
18 elephantiasis 10.3
19 multifocal dystonia 10.2 TOR1A CAMP
20 distichiasis 10.2 FOXC2 FOXC1
21 syngnathia 10.2 FOXC2 FOXC1
22 dystonia 24 10.2 TOR1A THAP1
23 dystonia 3, torsion, x-linked 10.2 THAP1 GCH1
24 cerebellopontine angle meningioma 10.2
25 klippel-trenaunay-weber syndrome 10.1 SOX18 FOXC2
26 spasmodic dystonia 10.1 TOR1A THAP1 CAMP
27 nevus, epidermal 10.1
28 xanthomatosis 10.1
29 pulmonary hypertension 10.1
30 papilloma 10.1
31 thiamine metabolism dysfunction syndrome 2 10.1 TOR1A GCH1
32 anal spasm 10.1 KANTR CAMP
33 systemic lupus erythematosus 10.1
34 ovarian cancer 1 10.1
35 lupus erythematosus 10.1
36 tic disorder 10.1 HTR2A DRD5
37 paraphimosis 10.1 KANTR CAMP
38 third cranial nerve disease 10.1 KANTR CAMP
39 oculomotor nerve paralysis 10.1 KANTR CAMP
40 early-onset generalized dystonia 10.1 TOR1A THAP1 GCH1
41 dystonia, dopa-responsive 10.1 TOR1A THAP1 GCH1
42 anismus 10.1 KANTR CAMP
43 adie pupil 10.1 TOR1A KANTR
44 exposure keratitis 10.1 KANTR DRD5
45 focal hand dystonia 10.1 TOR1A THAP1 DRD5 CAMP
46 focal dystonia 10.1 TOR1A THAP1 DRD5 CAMP
47 breast cancer 10.0
48 ovarian cancer 10.0
49 schizophrenia 10.0
50 ovarian germ cell cancer 10.0

Graphical network of the top 20 diseases related to Lymphedema, Hereditary, Ii:



Diseases related to Lymphedema, Hereditary, Ii

Symptoms & Phenotypes for Lymphedema, Hereditary, Ii

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

Human phenotypes related to Lymphedema, Hereditary, Ii:

32
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 occasional (7.5%) HP:0000175
2 yellow nails 32 occasional (7.5%) HP:0011367
3 predominantly lower limb lymphedema 32 HP:0003550
4 facial edema 32 occasional (7.5%) HP:0000282
5 hypoplasia of lymphatic vessels 32 HP:0003759

UMLS symptoms related to Lymphedema, Hereditary, Ii:


torticollis

MGI Mouse Phenotypes related to Lymphedema, Hereditary, Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.85 ADGRL3 ATXN3 DRD5 FOXC1 FOXC2 GCH1
2 normal MP:0002873 9.5 ADGRL3 DRD5 FOXC1 FOXC2 GLI2 SOX18
3 vision/eye MP:0005391 9.17 CAMP DRD5 FOXC1 FOXC2 GLI2 THAP1

Drugs & Therapeutics for Lymphedema, Hereditary, Ii

Drugs for Lymphedema, Hereditary, Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2 525-66-6 4946
2 Vasodilator Agents Phase 2
3 Adrenergic Agents Phase 2
4 Anti-Arrhythmia Agents Phase 2
5 Adrenergic beta-Antagonists Phase 2
6 Antihypertensive Agents Phase 2
7 Adrenergic Antagonists Phase 2
8 Neurotransmitter Agents Phase 2
9
Glucosamine Approved, Investigational 3416-24-8 439213
10 Glucuronyl glucosamine glycan sulfate
11 Anticoagulants
12 Lipid Regulating Agents
13 Anesthetics
14 Hypoglycemic Agents
15 Hypolipidemic Agents
16 Fibrinolytic Agents
17 Antimetabolites
18 Complement System Proteins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Propranolol Dose Escalation in Lymphedema in Patients Recruiting NCT02595996 Phase 2 Propranolol
2 Out-of Pocket Payments in Patients With Lymphedema Unknown status NCT02988479
3 Out-of Pocket Payments With Lymphedema in France Unknown status NCT02988505
4 Validation of Metrological Properties of Lymphoqol Unknown status NCT01922635 Not Applicable
5 Validation of a New Method of Limb Volumetry Unknown status NCT01574911
6 Physical Therapies in the Decongestive Treatment of Lymphedema Completed NCT01748604 Not Applicable
7 Histologic Analysis of the Lymphatic Vessels Used for Supermicrosurgical Lymphatico-venous Anastomoses in Lymphedema Recruiting NCT03465930
8 Oedema Study : Chroedem Recruiting NCT02914808
9 A Pilot Study to Evaluate the Feasibility and Potential Effectiveness of the Flexitouch System Head and Neck Treatment Recruiting NCT03332160 Not Applicable
10 Quality of Life Changes on Lower Extremity Lymphedema Patients Using an Advanced Pneumatic Compression Device (PCD) Recruiting NCT02661646

Search NIH Clinical Center for Lymphedema, Hereditary, Ii

Cochrane evidence based reviews: meige syndrome

Genetic Tests for Lymphedema, Hereditary, Ii

Genetic tests related to Lymphedema, Hereditary, Ii:

# Genetic test Affiliating Genes
1 Lymphedema Praecox 29

Anatomical Context for Lymphedema, Hereditary, Ii

MalaCards organs/tissues related to Lymphedema, Hereditary, Ii:

41
Skin, Brain, Lymph Node, Subthalamic Nucleus, Thyroid, Colon, Smooth Muscle

Publications for Lymphedema, Hereditary, Ii

Articles related to Lymphedema, Hereditary, Ii:

(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
Brueghel Syndrome or Meige Syndrome? Two Sides of a Same Disease. ( 29145188 )
2018
4
The impact of deep brain stimulation on health related quality of life and disease-specific disability in Meige Syndrome (MS). ( 29807200 )
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
Pallidal deep brain stimulation in the treatment of Meige syndrome. ( 18336624 )
2008
35
Meige syndrome: a rare form of cranial dystonia that was treated successfully with botulinum toxin. ( 18346825 )
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 Lymphedema, Hereditary, Ii

Expression for Lymphedema, Hereditary, Ii

Search GEO for disease gene expression data for Lymphedema, Hereditary, Ii.

Pathways for Lymphedema, Hereditary, Ii

GO Terms for Lymphedema, Hereditary, Ii

Cellular components related to Lymphedema, Hereditary, Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.02 ADGRL3 CAMP GLI2 HTR2A TOR1A

Biological processes related to Lymphedema, Hereditary, Ii according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.99 FOXC1 FOXC2 GLI2 INSC SOX18
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 FOXC1 FOXC2 GLI2 SOX18 THAP1
3 in utero embryonic development GO:0001701 9.77 FOXC1 GLI2 SOX18
4 skeletal system development GO:0001501 9.73 FOXC1 FOXC2 GLI2
5 heart development GO:0007507 9.67 FOXC1 FOXC2 GLI2 SOX18
6 kidney development GO:0001822 9.65 FOXC1 FOXC2 GLI2
7 blood vessel remodeling GO:0001974 9.58 FOXC1 FOXC2
8 negative regulation of blood pressure GO:0045776 9.58 DRD5 GCH1
9 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.57 FOXC1 FOXC2
10 intermediate filament cytoskeleton organization GO:0045104 9.55 ATXN3 TOR1A
11 artery morphogenesis GO:0048844 9.52 FOXC1 FOXC2
12 neural crest cell development GO:0014032 9.51 FOXC1 FOXC2
13 regulation of blood vessel size GO:0050880 9.49 FOXC1 FOXC2
14 cardiac muscle cell proliferation GO:0060038 9.46 FOXC1 FOXC2
15 lymphangiogenesis GO:0001946 9.43 FOXC2 SOX18
16 blood vessel development GO:0001568 9.43 FOXC1 FOXC2 SOX18
17 regulation of organ growth GO:0046620 9.4 FOXC1 FOXC2
18 paraxial mesoderm formation GO:0048341 9.32 FOXC1 FOXC2
19 negative regulation of apoptotic process involved in outflow tract morphogenesis GO:1902257 9.16 FOXC1 FOXC2
20 embryonic heart tube development GO:0035050 9.13 FOXC1 FOXC2 SOX18
21 lymph vessel development GO:0001945 8.8 FOXC1 FOXC2 SOX18

Molecular functions related to Lymphedema, Hereditary, Ii 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 9.62 FOXC2 GLI2 SOX18 THAP1
2 sequence-specific DNA binding GO:0043565 9.55 FOXC1 FOXC2 GLI2 SOX18 THAP1
3 G-protein alpha-subunit binding GO:0001965 9.26 DRD5 HTR2A
4 transcription regulatory region DNA binding GO:0044212 9.26 FOXC1 FOXC2 GLI2 SOX18
5 promoter-specific chromatin binding GO:1990841 8.8 FOXC1 FOXC2 GLI2

Sources for Lymphedema, Hereditary, Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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