LMPH2
MCID: HRD206
MIFTS: 32

Hereditary Lymphedema Ii (LMPH2)

Categories: Blood diseases, Cancer diseases, 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
Lymphedema Hereditary Type 2 74 52
Meige Lymphedema 12 52
Meige Disease 12 52
Hereditary Lymphedema Type Ii 52
Lymphedema, Hereditary, Ii 52
Lymphedema, Late-Onset 52
Late-Onset Lymphedema 12
Lymphedema Praecox 52
Lymphedema Preacox 12
Lmph2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070213
UMLS 71 C0238261 C1704424 C1704425

Summaries for Hereditary Lymphedema Ii

NIH Rare Diseases : 52 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 lymphedema hereditary type 2, is related to spasmodic dysphonia and primary lymphedema. 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, brain and breast, and related phenotypes are cardiovascular system and mortality/aging

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 : 74 Meige lymphedema, is an inherited disease in which patients develop lymphedema. The onset is between the... more...

Related Diseases for Hereditary Lymphedema Ii

Diseases in the Lymphedema family:

Hereditary Lymphedema Hereditary Lymphedema Ic
Hereditary Lymphedema Id Hereditary Lymphedema Ia
Hereditary Lymphedema Ib Hereditary Lymphedema I
Hereditary Lymphedema Ii Congenital Lymphedema
Primary 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 85)
# Related Disease Score Top Affiliating Genes
1 spasmodic dysphonia 30.3 TOR1A THAP1
2 primary lymphedema 30.3 GJC2 FOXC2 FLT4
3 yellow nail syndrome 30.2 SOX18 FOXC2
4 lymphatic malformation 5 30.1 TOR1A THAP1 SOX18 SGCE OMD GCH1
5 dystonia 29.9 TOR1A THAP1 SGCE GCH1
6 distichiasis 29.9 FOXC2 FOXC1
7 lymphedema 29.8 SOX18 FOXC2 FLT4
8 congenital lymphedema 29.7 FOXC2 FLT4
9 hereditary lymphedema 29.4 SOX18 FOXC2 FOXC1 FLT4
10 segmental dystonia 29.4 TOR1A THAP1 SGCE GCH1
11 oromandibular dystonia 29.3 TOR1A THAP1 SGCE OMD GCH1
12 blepharospasm 28.8 TOR1A THAP1 SGCE OMD GCH1 ANTXR2
13 hypotrichosis 28.7 SOX18 FOXC2 FLT4 ANTXR2
14 cervical dystonia 28.5 TOR1A THAP1 SGCE OMD GCH1 ANTXR2
15 obsolete: lymphedema praecox 12.4
16 filariasis 10.3
17 cellulitis 10.3
18 elephantiasis 10.3
19 torsion dystonia 2 10.3 TOR1A THAP1
20 dystonia 25 10.2 TOR1A THAP1
21 aromatic l-amino acid decarboxylase deficiency 10.1 OMD GCH1
22 nevus, epidermal 10.1
23 xanthomatosis 10.1
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
25 pulmonary hypertension 10.1
26 sensorineural hearing loss 10.1
27 cholestasis 10.1
28 keratosis 10.1
29 papilloma 10.1
30 lymphangitis 10.1
31 lymphangiectasis 10.1
32 cystic lymphangioma 10.1 PROX1 FOXC2
33 isolated dystonia 10.1 TOR1A THAP1 GCH1
34 basal ganglia disease 10.1 TOR1A THAP1 GCH1
35 maternal uniparental disomy 10.0 SGCE GJC2
36 neurodegeneration with brain iron accumulation 10.0 TOR1A THAP1 GCH1
37 noonan syndrome 1 10.0
38 protein-losing enteropathy 10.0
39 hemopericardium 10.0
40 cardiac tamponade 10.0
41 pericardial effusion 10.0
42 pseudo-turner syndrome 10.0
43 hereditary lymphedema i 10.0 SOX18 FLT4
44 alternating hemiplegia of childhood 9.9 THAP1 SGCE GCH1
45 complex regional pain syndrome 9.9 TOR1A GCH1
46 choreatic disease 9.9 SGCE GCH1
47 cleft palate, isolated 9.9
48 lymphedema-distichiasis syndrome 9.9
49 torticollis 9.9
50 tardive dyskinesia 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

MGI Mouse Phenotypes related to Hereditary Lymphedema Ii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 ANTXR2 FLT4 FOXC1 FOXC2 GCH1 PROX1
2 mortality/aging MP:0010768 10.02 ANTXR2 FLT4 FOXC1 FOXC2 GCH1 GJC2
3 nervous system MP:0003631 9.76 FOXC1 FOXC2 GCH1 GJC2 PROX1 SGCE
4 muscle MP:0005369 9.73 FLT4 FOXC1 FOXC2 PROX1 SGCE TOR1A
5 normal MP:0002873 9.5 FLT4 FOXC1 FOXC2 GJC2 PROX1 SOX18
6 vision/eye MP:0005391 9.1 FOXC1 FOXC2 GJC2 PROX1 THAP1 TOR1A

Drugs & Therapeutics for Hereditary Lymphedema Ii

Search Clinical Trials , NIH Clinical Center for Hereditary Lymphedema Ii

Genetic Tests for Hereditary Lymphedema Ii

Anatomical Context for Hereditary Lymphedema Ii

MalaCards organs/tissues related to Hereditary Lymphedema Ii:

40
Skin, Brain, Breast

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 nuclear chromatin GO:0000790 9.02 THAP1 SOX18 PROX1 FOXC2 FOXC1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 THAP1 SOX18 PROX1 FOXC2 FOXC1
2 positive regulation of transcription, DNA-templated GO:0045893 9.91 SOX18 PROX1 FOXC2 FOXC1
3 brain development GO:0007420 9.8 PROX1 GJC2 FOXC1
4 heart development GO:0007507 9.8 SOX18 FOXC2 FOXC1
5 angiogenesis GO:0001525 9.79 SOX18 FOXC1 FLT4
6 kidney development GO:0001822 9.71 PROX1 FOXC2 FOXC1
7 collagen fibril organization GO:0030199 9.63 FOXC2 FOXC1
8 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.63 FOXC2 FOXC1 FLT4
9 ureteric bud development GO:0001657 9.61 FOXC2 FOXC1
10 positive regulation of endothelial cell migration GO:0010595 9.61 PROX1 FOXC2 FLT4
11 blood vessel remodeling GO:0001974 9.6 FOXC2 FOXC1
12 vasculature development GO:0001944 9.59 SOX18 FLT4
13 artery morphogenesis GO:0048844 9.58 FOXC2 FOXC1
14 neural crest cell development GO:0014032 9.58 FOXC2 FOXC1
15 blood vessel development GO:0001568 9.58 SOX18 FOXC2 FOXC1
16 regulation of blood vessel diameter GO:0097746 9.57 FOXC2 FOXC1
17 vascular endothelial growth factor signaling pathway GO:0038084 9.56 FOXC1 FLT4
18 cardiac muscle cell proliferation GO:0060038 9.52 FOXC2 FOXC1
19 regulation of organ growth GO:0046620 9.51 FOXC2 FOXC1
20 paraxial mesoderm formation GO:0048341 9.49 FOXC2 FOXC1
21 lymphatic endothelial cell differentiation GO:0060836 9.48 SOX18 PROX1
22 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.43 PROX1 FOXC2 FOXC1
23 endocardium formation GO:0060214 9.37 SOX18 PROX1
24 embryonic heart tube development GO:0035050 9.33 SOX18 FOXC2 FOXC1
25 negative regulation of apoptotic process involved in outflow tract morphogenesis GO:1902257 9.32 FOXC2 FOXC1
26 lymphangiogenesis GO:0001946 9.26 SOX18 PROX1 FOXC2 FLT4
27 lymph vessel development GO:0001945 9.02 SOX18 PROX1 FOXC2 FOXC1 FLT4

Molecular functions related to Hereditary Lymphedema 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 9.56 THAP1 SOX18 PROX1 FOXC2
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.55 THAP1 SOX18 PROX1 FOXC2 FOXC1
3 sequence-specific DNA binding GO:0043565 9.35 THAP1 SOX18 PROX1 FOXC2 FOXC1
4 promoter-specific chromatin binding GO:1990841 9.32 FOXC2 FOXC1
5 transcription regulatory region DNA binding GO:0044212 8.92 SOX18 PROX1 FOXC2 FOXC1

Sources for Hereditary Lymphedema Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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