MCID: LYM130
MIFTS: 56

Lymphedema, Hereditary, Ii

Categories: Rare diseases, Neuronal diseases, Reproductive diseases, Muscle diseases, Immune diseases, Oral diseases, Genetic diseases, Cardiovascular 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 53 25 75
Meige Disease 57 53 25 75
Lymphedema, Late-Onset 57 53 75
Meigs Syndrome 59 55 73
Lmph2 57 25 75
Blepharospasm-Oromandibular Dystonia Syndrome 53 59
Hereditary Lymphedema Type Ii 53 73
Lymphedema Hereditary Type 2 76 53
Late-Onset Lymphedema 25 75
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
Hereditary Lymphedema Ii 25
Demons-Meigs Syndrome 59
Oral Facial Dystonia 53
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:3982
SNOMED-CT 68 230325003
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 lymphedema and yellow nail syndrome, and has symptoms including torticollis An important gene associated with Lymphedema, Hereditary, Ii is MUC16 (Mucin 16, Cell Surface Associated), and among its related pathways/superpathways is Folate biosynthesis. The drugs Propranolol and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and brain, and related phenotypes are cleft palate and facial edema

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.

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.

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

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
Congenital Lymphedema

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 lymphedema 31.3 FOXC2 GJC2 SOX18
2 yellow nail syndrome 31.0 FOXC2 SOX18
3 blepharospasm 29.8 CAMP DRD5 GCH1 THAP1 TOR1A
4 dystonia 29.4 DRD5 GCH1 THAP1 TOR1A
5 pseudo-meigs syndrome 12.1
6 atypical meigs syndrome 12.1
7 blepharospasm, benign essential 11.3
8 distichiasis 10.6 FOXC1 FOXC2
9 multifocal dystonia 10.6 CAMP TOR1A
10 spasmodic dysphonia 10.6 THAP1 TOR1A
11 dystonia 24 10.5 THAP1 TOR1A
12 anal spasm 10.5 CAMP KANTR
13 cellulitis 10.5 CAMP GJC2
14 dystonia 3, torsion, x-linked 10.5 GCH1 THAP1
15 hereditary lymphedema 10.4 FOXC1 FOXC2 GJC2
16 paraphimosis 10.4 CAMP KANTR
17 oculomotor nerve paralysis 10.4 CAMP KANTR
18 third cranial nerve disease 10.4 CAMP KANTR
19 anismus 10.4 CAMP KANTR
20 klippel-trenaunay-weber syndrome 10.4 FOXC2 SOX18
21 spasmodic dystonia 10.3 CAMP THAP1 TOR1A
22 adie pupil 10.3 KANTR TOR1A
23 thiamine metabolism dysfunction syndrome 2 10.3 GCH1 TOR1A
24 struma ovarii 10.3
25 hyperphenylalaninemia, bh4-deficient, b 10.3 GCH1 PTS
26 exposure keratitis 10.3 DRD5 KANTR
27 leiomyoma 10.2
28 leukodystrophy, hypomyelinating, 2 10.2 GCH1 GJC2 TOR1A
29 early-onset generalized dystonia 10.2 GCH1 THAP1 TOR1A
30 dystonia, dopa-responsive 10.2 GCH1 THAP1 TOR1A
31 oculogyric crisis 10.2 GCH1 KANTR
32 ovarian fibroma 10.2
33 elephantiasis 10.1
34 leiomyoma, uterine 10.1
35 focal hand dystonia 10.1 CAMP DRD5 THAP1 TOR1A
36 focal dystonia 10.1 CAMP DRD5 THAP1 TOR1A
37 tic disorder 10.1 DRD5 HTR2A
38 xanthomatosis 10.0
39 pulmonary hypertension 10.0
40 tetrahydrobiopterin deficiency 10.0 GCH1 PTS
41 oromandibular dystonia 9.9 CAMP GCH1 THAP1 TOR1A
42 segmental dystonia 9.9 CAMP GCH1 THAP1 TOR1A
43 dystonia 12 9.9 CAMP GCH1 THAP1 TOR1A
44 dystonia 11, myoclonic 9.9 CAMP GCH1 THAP1 TOR1A
45 premenstrual tension 9.9 CAMP KANTR
46 periodic limb movement disorder 9.8 HTR2A KANTR
47 posterolateral myocardial infarction 9.8 KANTR PKDREJ
48 subclavian steal syndrome 9.8 KANTR PKDREJ
49 punctate epithelial keratoconjunctivitis 9.7 DRD5 KANTR
50 spasticity 9.7

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 Face:
facial swelling (in some patients)

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

Head And Neck Mouth:
cleft palate (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


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 facial edema 32 occasional (7.5%) HP:0000282
3 predominantly lower limb lymphedema 32 HP:0003550
4 hypoplasia of lymphatic vessels 32 HP:0003759
5 yellow nails 32 occasional (7.5%) HP:0011367

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 mortality/aging MP:0010768 10.11 TOR1A CAMP DRD5 FOXC1 FOXC2 GCH1
2 behavior/neurological MP:0005386 10.09 ATXN3 DRD5 GJC2 GLI2 HTR2A PTS
3 nervous system MP:0003631 9.96 ATXN3 DRD5 FOXC1 FOXC2 GCH1 GJC2
4 digestive/alimentary MP:0005381 9.88 FOXC1 FOXC2 GLI2 HTR2A PTS SOX18
5 muscle MP:0005369 9.8 FOXC1 FOXC2 GLI2 HTR2A PTS TOR1A
6 normal MP:0002873 9.7 DRD5 FOXC1 FOXC2 GJC2 GLI2 SOX18
7 pigmentation MP:0001186 9.26 FOXC1 FOXC2 PTS SOX18
8 vision/eye MP:0005391 9.23 CAMP DRD5 FOXC1 FOXC2 GJC2 GLI2

Drugs & Therapeutics for Lymphedema, Hereditary, Ii

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2 525-66-6 4946
2 Adrenergic Agents Phase 2
3 Adrenergic Antagonists Phase 2
4 Adrenergic beta-Antagonists Phase 2
5 Anti-Arrhythmia Agents Phase 2
6 Antihypertensive Agents Phase 2
7 Neurotransmitter Agents Phase 2
8 Vasodilator Agents Phase 2
9 Dihydroxyphenylalanine
10 Complement System Proteins

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Brain Stimulation to Treat Blepharospasm or Meige Syndrome Completed NCT00411255 Phase 2
2 Propranolol Dose Escalation in Lymphedema in Patients Recruiting NCT02595996 Phase 2 Propranolol
3 Out-of Pocket Payments in Patients With Lymphedema Unknown status NCT02988479
4 Validation of a New Method of Limb Volumetry Unknown status NCT01574911
5 Physical Therapies in the Decongestive Treatment of Lymphedema Completed NCT01748604 Not Applicable
6 Out-of Pocket Payments With Lymphedema in France Recruiting NCT02988505
7 Validation of Metrological Properties of Lymphoqol Recruiting NCT01922635 Not Applicable
8 Histologic Analysis of the Lymphatic Vessels Used for Supermicrosurgical Lymphatico-venous Anastomoses in Lymphedema Recruiting NCT03465930
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 PCD Recruiting NCT02661646
11 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424
12 Oedema Study : Chroedem Not yet recruiting NCT02914808

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, Ovary, Brain, Colon, Lymph Node, Endothelial, Subthalamic Nucleus

Publications for Lymphedema, Hereditary, Ii

Articles related to Lymphedema, Hereditary, Ii:

(show top 50) (show all 273)
# Title Authors Year
1
Precise preoperative diagnosis of struma ovarii with pseudo-Meigs' syndrome mimicking ovarian cancer with the combination of<sup>131</sup>I scintigraphy and<sup>18</sup>F-FDG PET: case report and review of the literature. ( 29391043 )
2018
2
Long-term outcome of pallidal stimulation for Meige syndrome. ( 29350600 )
2018
3
Clinical experience with patients with spasmodic dysphonia and primary Meige syndrome. ( 29716720 )
2018
4
Polyserositis in a Patient with Active Systemic Lupus Erythematosus: A Case of Pseudo-pseudo Meigs Syndrome. ( 29858460 )
2018
5
Bilateral deep brain stimulation of the subthalamic nucleus in primary Meige syndrome. ( 28548593 )
2017
6
Struma Ovarii with Pseudo-Meigs' Syndrome and Raised Cancer Antigen-125 Levels Masquerading as an Ovarian Carcinoma Case report and literature review. ( 28690899 )
2017
7
The use of laparoscopic rectopexy to manage rectal prolapse with Pseudo-Meigs' syndrome in a 64-year-old female: a case report. ( 28469868 )
2017
8
Three Cases of Pseudo-Meigs' Syndrome Secondary to Ovarian Metastases from Colorectal Cancer. ( 28373923 )
2017
9
Bilateral pallidotomy for Meige syndrome. ( 28424916 )
2017
10
A case of Meigs' syndrome with preceding pericardial effusion in advance of pleural effusion. ( 27160723 )
2016
11
Systemic Lupus Erythematosus Presenting with Massive Ascites: A Case of Pseudo-Pseudo Meigs Syndrome. ( 27366341 )
2016
12
Marked Improvement of Meige Syndrome in a Japanese Male Patient with Schizophrenia After Switching from Risperidone to Paliperidone: A Case Report. ( 27627971 )
2016
13
Long-term survival in pseudo-Meigs' syndrome caused by ovarian metastases from colon cancer. ( 27842595 )
2016
14
A Case Report of Psychoactive Drugs Aggravating and Alleviating Meige Syndrome. ( 28638194 )
2016
15
Enormous ovarian fibroma with elevated Ca-125 associated with Meigs' syndrome. Presentation of a rare case. ( 27048129 )
2016
16
Pseudo-Meigs' syndrome due to ovarian metastases from colon cancer: a case report and review of the literature. ( 27734419 )
2016
17
Application of electrophysiological methodsA and magnetic resonance tomographic angiography in the differentiation between hemifacial spasm and Meige syndrome. ( 26838523 )
2016
18
[Meigs' syndrome caused by bilateral ovarian fibroma mimicking ovarian cancer]. ( 27290838 )
2016
19
Case of pseudo-Meigs' syndrome caused by gastric cancer-related metastatic ovarian tumor with prolonged survival. ( 27895818 )
2016
20
Pseudo-Meigs' syndrome secondary to metachronous ovarian metastases from transverse colon cancer. ( 27182170 )
2016
21
Ovarian Fibroma Presenting With Meigs Syndrome. ( 25715273 )
2015
22
Coexistence of benign struma ovarii, pseudo-Meigs' syndrome and elevated serum CA 125: Case report and review of the literature. ( 25789033 )
2015
23
Pseudo-Meigs' Syndrome Caused by a Krukenberg Tumour of Gastric Cancer. ( 26466694 )
2015
24
Combination therapy for segmental craniocervical dystonia (Meige syndrome) with aripiprazole, trihexyphenidyl, and botulinum toxin: three cases reports. ( 25151364 )
2015
25
Serous Cystadenoma and Fibrothecoma: A Rare Combination in Collision Tumor of Ovary with Pseudo-Meigs Syndrome. ( 26148741 )
2015
26
A case of mixed connective tissue disease with pseudo-pseudo Meigs' syndrome (PPMS)-like features. ( 26377236 )
2015
27
Deep Brain Stimulation for Craniocervical Dystonia (Meige Syndrome): A Report of Four Patients and a Literature-Based Analysis of Its Treatment Effects. ( 26399458 )
2015
28
Tardive Blepharospasm and Meige Syndrome during Treatment with Quetiapine and Olanzapine. ( 28360708 )
2015
29
Cellular leiomyoma with necrosis and mucinous degeneration presenting as pseudo-Meigs' syndrome with elevated CA125. ( 25891047 )
2015
30
METASTATIC RADIOIODINE AVID STRUMA OVARII ASSOCIATED WITH PSEUDO-MEIGS' SYNDROME. ( 26721055 )
2015
31
Pseudo-Meigs' syndrome secondary to endodermal sinus tumour. ( 24359073 )
2014
32
Globus pallidus interna deep brain stimulation in a patient with medically intractable meige syndrome. ( 25360233 )
2014
33
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
34
Pseudo-Meigs' syndrome associated with hydropic degenerating uterine leiomyoma: a case report. ( 24612300 )
2014
35
Concentrated ascites re-infusion therapy for pseudo-Meigs' syndrome complicated by massive ascites in large pedunculated uterine leiomyoma. ( 25056475 )
2014
36
Large twisted ovarian fibroma associated with Meigs' syndrome, abdominal pain and severe anemia treated by laparoscopic surgery. ( 24962423 )
2014
37
Pallidal deep brain stimulation in the treatment of Meige syndrome. ( 24981184 )
2014
38
Meigs' syndrome with elevated serum CA125 in a case of ovarian fibroma /thecoma. ( 24490014 )
2014
39
Meigs' syndrome with elevated serum CA 125 level in a case of ovarian fibrothecoma. ( 25556284 )
2014
40
A rare case of bilateral ovarian fibroma presenting as Meigs syndrome. ( 23919874 )
2013
41
Borderline mucinous ovarian tumor presenting as pseudo-Meigs' syndrome. ( 22672527 )
2013
42
Meigs' syndrome: a rare cause of recurrent pleural effusion in scleroderma. ( 22538500 )
2013
43
Long-term botulinum toxin treatment of benign essential blepharospasm, hemifacial spasm, and Meige syndrome. ( 23541393 )
2013
44
Misdiagnosis of gossypiboma as Meigs' syndrome. ( 23096267 )
2013
45
A case of schizophrenia with meige syndrome induced by perospirone successfully treated with biperiden. ( 23487218 )
2013
46
Severe inflammation may be caused by hyperferritinemia of pseudo-pseudo Meigs' syndrome in lupus patients: two cases reports and a literature review. ( 23959446 )
2013
47
A rare form of SLE: pseudo-pseudo meigs syndrome and hydrocephalus. ( 22451030 )
2013
48
Meigs syndrome presenting with axillary vein thrombosis and lymphadenopathy: a case report. ( 23856407 )
2013
49
Ovarian mass, pleural effusion, and ascites: revisiting Meigs syndrome. ( 23328144 )
2013
50
Pseudo-Meigs' syndrome associated with struma ovarii. ( 23616325 )
2013

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.09 GCH1 PTS

GO Terms for Lymphedema, Hereditary, Ii

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.96 FOXC1 FOXC2 GLI2 SOX18 THAP1
2 skeletal system development GO:0001501 9.75 FOXC1 FOXC2 GLI2
3 heart development GO:0007507 9.73 FOXC1 FOXC2 GLI2 SOX18
4 kidney development GO:0001822 9.69 FOXC1 FOXC2 GLI2
5 blood vessel remodeling GO:0001974 9.6 FOXC1 FOXC2
6 negative regulation of blood pressure GO:0045776 9.59 DRD5 GCH1
7 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.58 FOXC1 FOXC2
8 artery morphogenesis GO:0048844 9.57 FOXC1 FOXC2
9 neural crest cell development GO:0014032 9.55 FOXC1 FOXC2
10 regulation of blood vessel size GO:0050880 9.54 FOXC1 FOXC2
11 intermediate filament cytoskeleton organization GO:0045104 9.52 ATXN3 TOR1A
12 cardiac muscle cell proliferation GO:0060038 9.49 FOXC1 FOXC2
13 lymphangiogenesis GO:0001946 9.48 FOXC2 SOX18
14 cofactor metabolic process GO:0051186 9.46 GCH1 PTS
15 blood vessel development GO:0001568 9.43 FOXC1 FOXC2 SOX18
16 regulation of organ growth GO:0046620 9.4 FOXC1 FOXC2
17 tetrahydrobiopterin biosynthetic process GO:0006729 9.37 GCH1 PTS
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 sequence-specific DNA binding GO:0043565 9.55 FOXC1 FOXC2 GLI2 SOX18 THAP1
2 G-protein alpha-subunit binding GO:0001965 9.26 DRD5 HTR2A
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 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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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