LMPH2
MCID: HRD206
MIFTS: 31

Hereditary Lymphedema Ii (LMPH2)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hereditary Lymphedema Ii

MalaCards integrated aliases for Hereditary Lymphedema Ii:

Name: Hereditary Lymphedema Ii 12 15
Hereditary Lymphedema Type Ii 20 70
Lymphedema Hereditary Type 2 73 20
Lymphedema, Hereditary, Ii 20 44
Lymphedema Praecox 20 70
Meige Lymphedema 12 20
Meige Disease 12 20
Lymphedema, Late-Onset 20
Late-Onset Lymphedema 12
Lymphedema Preacox 12
Meige Syndrome 70
Meigs Syndrome 70
Lmph2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070213
MeSH 44 C562467
SNOMED-CT 67 234098006 400040008
ICD10 32 I89.0
UMLS 70 C0025183 C0025184 C0238261 more

Summaries for Hereditary Lymphedema Ii

GARD : 20 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 : Hereditary Lymphedema Ii, also known as hereditary lymphedema type ii, is related to primary lymphedema and spasmodic dysphonia, and has symptoms including torticollis An important gene associated with Hereditary Lymphedema Ii is FOXC2 (Forkhead Box C2), and among its related pathways/superpathways is Heart Development. Affiliated tissues include skin, and related phenotype is normal.

Disease Ontology : 12 A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance.

Wikipedia : 73 Meige disease, or Meige lymphedema is a genetic disorder in which lymphedema later develops. Meige... more...

Related Diseases for Hereditary Lymphedema Ii

Diseases in the Primary Lymphedema family:

Hereditary Lymphedema Hereditary Lymphedema Ic
Hereditary Lymphedema Id Hereditary Lymphedema Ia
Hereditary Lymphedema Ib Hereditary Lymphedema I
Hereditary Lymphedema Ii Congenital Lymphedema
Celsr1-Related Late-Onset Primary Lymphedema Gjc2-Related Late-Onset Primary Lymphedema

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 primary lymphedema 30.8 FOXC2 FLT4
2 spasmodic dysphonia 30.2 TOR1A THAP1
3 congenital lymphedema 30.1 FOXC2 FLT4
4 oromandibular dystonia 30.1 TOR1A THAP1 SGCE
5 distichiasis 30.1 FOXC2 FOXC1
6 yellow nail syndrome 30.1 SOX18 FOXC2
7 hereditary lymphedema i 30.0 SOX18 FOXC2 FLT4 CCBE1
8 cervical dystonia 29.9 TOR1A THAP1 SGCE
9 hypotrichosis 29.8 SOX18 FOXC2 FLT4
10 hereditary lymphedema 29.8 SOX18 FOXC2 FOXC1 FLT4 CCBE1
11 dystonia 29.6 TOR1A THAP1 TAF1 SGCE GJC2
12 blepharospasm 29.4 TOR1A THAP1 TAF1L TAF1 SGCE
13 lymphatic malformation 5 29.2 TOR1A THAP1 TAF1L TAF1 SOX18 SGCE
14 segmental dystonia 29.0 TOR1A THAP1 TAF1L TAF1 SGCE
15 lymphedema-distichiasis syndrome 28.8 SOX18 GJC2 FOXC2 FOXC1 FLT4 CCBE1
16 elephantiasis 10.2
17 cranio-facial dystonia 10.2 TOR1A THAP1
18 isolated dystonia 10.2 TOR1A THAP1
19 filariasis 10.1
20 cellulitis 10.1
21 cholestasis-lymphedema syndrome 10.1 SOX18 CCBE1
22 torsion dystonia 2 10.1 TOR1A THAP1
23 spasmodic dystonia 10.0 TOR1A THAP1 SGCE
24 focal hand dystonia 10.0 TOR1A THAP1 SGCE
25 dystonia 1, torsion, autosomal dominant 10.0 TOR1A THAP1 SGCE
26 nevus, epidermal 10.0
27 xanthomatosis 10.0
28 pulmonary hypertension 10.0
29 sensorineural hearing loss 10.0
30 cholestasis 10.0
31 keratosis 10.0
32 papilloma 10.0
33 lymphangitis 10.0
34 lymphangiectasis 10.0
35 torsion dystonia 4 10.0 TOR1A THAP1
36 choreatic disease 10.0 TOR1A THAP1 SGCE
37 hypotrichosis-lymphedema-telangiectasia syndrome 10.0 SOX18 FOXC2 FLT4
38 lymphatic malformation 1 10.0 GJC2 FLT4
39 maternal uniparental disomy 10.0 SGCE GJC2
40 klippel-trenaunay-weber syndrome 10.0 SOX18 FOXC2 FLT4
41 noonan syndrome 1 9.9
42 protein-losing enteropathy 9.9
43 hemopericardium 9.9
44 cardiac tamponade 9.9
45 pericardial effusion 9.9
46 pseudo-turner syndrome 9.9
47 cleft palate, isolated 9.9
48 torticollis 9.9
49 tardive dyskinesia 9.9
50 aceruloplasminemia 9.9

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



Diseases related to Hereditary Lymphedema Ii

Symptoms & Phenotypes for Hereditary Lymphedema Ii

UMLS symptoms related to Hereditary Lymphedema Ii:


torticollis

MGI Mouse Phenotypes related to Hereditary Lymphedema Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.17 CCBE1 FLT4 FOXC1 FOXC2 GJC2 SOX18

Drugs & Therapeutics for Hereditary Lymphedema Ii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Comparative Study of GPI's DBS and Pallidotomy in the Treatment of Meige Syndrome Active, not recruiting NCT04618887

Search NIH Clinical Center for Hereditary Lymphedema Ii

Cochrane evidence based reviews: lymphedema, hereditary, ii

Genetic Tests for Hereditary Lymphedema Ii

Anatomical Context for Hereditary Lymphedema Ii

MalaCards organs/tissues related to Hereditary Lymphedema Ii:

40
Skin

Publications for Hereditary Lymphedema Ii

Articles related to Hereditary Lymphedema Ii:

(show all 18)
# Title Authors PMID Year
1
Novel missense mutations in the FOXC2 gene alter transcriptional activity. 61
19760751 2009
2
Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. 61
18197197 2008
3
Pharmacologic characterization of botulinum toxin for basic science and medicine. 61
9403963 1997
4
Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications. 61
7747790 1995
5
Surface electromyographic study of idiopathic cranial dystonia focused on the orbicularis oculi muscles. 61
1506871 1992
6
Chronic lymphangiectasis in Turner's syndrome. 61
3964640 1986
7
[Treatment of Meige disease with a GABA receptor agonist]. 61
4091737 1985
8
Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature. 61
6342849 1983
9
Spastic dysphonia, Meige disease, and torsion dystonia. 61
6889708 1982
10
Meige disease: acute and chronic cholinergic effects. 61
7201118 1982
11
Beneficial effects of lisuride in Meige disease. 61
7199669 1982
12
Treatment of hyperkinetic movement disorders with tetrabenazine: a double-blind crossover study. 61
6460467 1982
13
Meige disease: striatal dopaminergic preponderance. 61
379689 1979
14
[Late isolated form of chronic trophic edema of the skin or Nonne-Milroy-Meige disease]. 61
5032301 1972
15
[Etiopathogenetic unity of the Nonne-Milroy-Meige disease and various forms of exudative enteropathies]. 61
5114244 1971
16
[Nonne-Milroy-Meige disease in 2 members of a family]. 61
5351081 1969
17
[MILROY-NONNE-MEIGE DISEASE, OBSERVED IN A PREGNANT WOMAN]. 61
14164857 1964
18
[Recessively hereditary chronic lymphedema (Nonne-Milroy-Meige disease)]. 61
13382786 1957

Variations for Hereditary Lymphedema Ii

Expression for Hereditary Lymphedema Ii

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

Pathways for Hereditary Lymphedema Ii

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

# Super pathways Score Top Affiliating Genes
1 10.29 FOXC2 FOXC1

GO Terms for Hereditary Lymphedema Ii

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.1 THAP1 TAF1L TAF1 SOX18 FOXC2 FOXC1
2 transcription factor TFIID complex GO:0005669 8.96 TAF1L TAF1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 THAP1 TAF1 SOX18 FOXC2 FOXC1
2 heart development GO:0007507 9.81 SOX18 FOXC2 FOXC1
3 angiogenesis GO:0001525 9.73 SOX18 FOXC1 FLT4 CCBE1
4 anatomical structure morphogenesis GO:0009653 9.72 SOX18 FOXC2 FOXC1
5 somitogenesis GO:0001756 9.64 FOXC2 FOXC1
6 DNA-templated transcription, initiation GO:0006352 9.63 TAF1L TAF1
7 ureteric bud development GO:0001657 9.63 FOXC2 FOXC1
8 blood vessel remodeling GO:0001974 9.62 FOXC2 FOXC1
9 sprouting angiogenesis GO:0002040 9.62 FLT4 CCBE1
10 respiratory gaseous exchange GO:0007585 9.61 FLT4 CCBE1
11 positive regulation of vascular endothelial growth factor production GO:0010575 9.61 FLT4 CCBE1
12 vasculature development GO:0001944 9.6 SOX18 FLT4
13 artery morphogenesis GO:0048844 9.59 FOXC2 FOXC1
14 neural crest cell development GO:0014032 9.58 FOXC2 FOXC1
15 regulation of blood vessel diameter GO:0097746 9.58 FOXC2 FOXC1
16 positive regulation of endothelial cell migration GO:0010595 9.58 FOXC2 FLT4 CCBE1
17 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.57 FOXC2 FOXC1
18 RNA polymerase II preinitiation complex assembly GO:0051123 9.56 TAF1L TAF1
19 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.54 FOXC2 FOXC1 FLT4
20 vascular endothelial growth factor signaling pathway GO:0038084 9.52 FOXC1 FLT4
21 respiratory system process GO:0003016 9.51 FLT4 CCBE1
22 blood vessel development GO:0001568 9.5 SOX18 FOXC2 FOXC1
23 cardiac muscle cell proliferation GO:0060038 9.49 FOXC2 FOXC1
24 regulation of organ growth GO:0046620 9.48 FOXC2 FOXC1
25 paraxial mesoderm formation GO:0048341 9.46 FOXC2 FOXC1
26 embryonic heart tube development GO:0035050 9.33 SOX18 FOXC2 FOXC1
27 negative regulation of apoptotic process involved in outflow tract morphogenesis GO:1902257 9.26 FOXC2 FOXC1
28 lymphangiogenesis GO:0001946 9.26 SOX18 FOXC2 FLT4 CCBE1
29 lymph vessel development GO:0001945 9.02 SOX18 FOXC2 FOXC1 FLT4 CCBE1

Molecular functions related to Hereditary Lymphedema Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 THAP1 TAF1L TAF1 SOX18 FOXC2 FOXC1
2 DNA-binding transcription factor activity GO:0003700 9.71 THAP1 SOX18 FOXC2 FOXC1
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.54 SOX18 FOXC2 FOXC1
4 histone acetyltransferase activity GO:0004402 9.32 TAF1L TAF1
5 RNA polymerase II general transcription initiation factor activity GO:0016251 9.26 TAF1L TAF1
6 TBP-class protein binding GO:0017025 9.16 TAF1L TAF1
7 sequence-specific DNA binding GO:0043565 9.02 THAP1 TAF1 SOX18 FOXC2 FOXC1
8 lysine-acetylated histone binding GO:0070577 8.96 TAF1L TAF1

Sources for Hereditary Lymphedema Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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