MCID: HRD206
MIFTS: 32

Hereditary Lymphedema Ii

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Hereditary Lymphedema Ii

MalaCards integrated aliases for Hereditary Lymphedema Ii:

Name: Hereditary Lymphedema Ii 12 15
Lymphedema Hereditary Type 2 77 54
Meige Lymphedema 12 54
Meige Disease 12 54
Hereditary Lymphedema Type Ii 54
Lymphedema, Hereditary, Ii 54
Lymphedema, Late-Onset 54
Late-Onset Lymphedema 12
Lymphedema Praecox 54
Lymphedema Preacox 12
Lmph2 12

Classifications:



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Disease Ontology 12 DOID:0070213

Summaries for Hereditary Lymphedema Ii

NIH Rare Diseases : 54 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 yellow nail syndrome and 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, and related phenotypes are nervous system and 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 : 77 Meige lymphedema, is an inherited disease in which patients develop lymphedema. The onset is between... 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

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 yellow nail syndrome 30.6 FOXC2 SOX18
2 lymphedema 30.3 FOXC2 SOX18
3 lymphatic malformation 5 11.3
4 distichiasis 10.3 FOXC1 FOXC2
5 syngnathia 10.3 FOXC1 FOXC2
6 multifocal dystonia 10.3 CAMP TOR1A
7 elephantiasis 10.3
8 spasmodic dysphonia 10.2 THAP1 TOR1A
9 hereditary lymphedema 10.2 FOXC1 FOXC2 SOX18
10 dystonia 24 10.2 THAP1 TOR1A
11 dystonia 3, torsion, x-linked 10.2 GCH1 THAP1
12 klippel-trenaunay-weber syndrome 10.1 FOXC2 SOX18
13 venous malformations, multiple cutaneous and mucosal 10.1 FOXC2 SOX18
14 nevus, epidermal 10.1
15 xanthomatosis 10.1
16 pulmonary hypertension 10.1
17 papilloma 10.1
18 spasmodic dystonia 10.1 CAMP THAP1 TOR1A
19 focal hand dystonia 10.1 CAMP THAP1 TOR1A
20 focal dystonia 10.1 CAMP THAP1 TOR1A
21 thiamine metabolism dysfunction syndrome 2 10.1 GCH1 TOR1A
22 dystonia, dopa-responsive 10.0 GCH1 THAP1 TOR1A
23 anal spasm 10.0 CAMP KANTR
24 paraphimosis 10.0 CAMP KANTR
25 oculomotor nerve paralysis 10.0 CAMP KANTR
26 third cranial nerve disease 10.0 CAMP KANTR
27 anismus 10.0 CAMP KANTR
28 protein-losing enteropathy 10.0
29 hemopericardium 10.0
30 cardiac tamponade 10.0
31 pericardial effusion 10.0
32 noonan syndrome 1 10.0
33 pseudo-turner syndrome 10.0
34 adie pupil 9.9 KANTR TOR1A
35 oromandibular dystonia 9.9 CAMP GCH1 THAP1 TOR1A
36 segmental dystonia 9.9 CAMP GCH1 THAP1 TOR1A
37 blepharospasm 9.9 CAMP GCH1 THAP1 TOR1A
38 dystonia 12 9.9 CAMP GCH1 THAP1 TOR1A
39 cervical dystonia 9.9 CAMP GCH1 THAP1 TOR1A
40 dystonia 11, myoclonic 9.9 CAMP GCH1 THAP1 TOR1A
41 cleft palate, isolated 9.8
42 lymphedema-distichiasis syndrome 9.8
43 dystonia 9.8
44 leukodystrophy, hypomyelinating, 2 9.8 GCH1 TOR1A
45 oculogyric crisis 9.8 GCH1 KANTR
46 periodic limb movement disorder 9.8 HTR2A KANTR
47 premenstrual tension 9.8 CAMP KANTR
48 optic disk drusen 9.7 INSC KANTR
49 dystonia 1, torsion, autosomal dominant 9.6 CAMP GCH1 KANTR TOR1A
50 hemidystonia 9.4 CAMP GCH1 KANTR THAP1 TOR1A

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.81 ADGRL3 ATXN3 FOXC1 FOXC2 GCH1 GLI2
2 normal MP:0002873 9.43 ADGRL3 FOXC1 FOXC2 GLI2 SOX18 TOR1A
3 vision/eye MP:0005391 9.1 CAMP FOXC1 FOXC2 GLI2 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:

42
Skin

Publications for Hereditary Lymphedema Ii

Articles related to Hereditary Lymphedema Ii:

# Title Authors Year
1
Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. ( 18197197 )
2008
2
Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature. ( 6342849 )
1983
3
Spastic dysphonia, Meige disease, and torsion dystonia. ( 6889708 )
1982

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 FOXC1 FOXC2

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 cell projection GO:0042995 8.92 ADGRL3 GLI2 HTR2A TOR1A

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.97 FOXC1 FOXC2 GLI2 INSC SOX18
2 positive regulation of transcription, DNA-templated GO:0045893 9.91 FOXC1 FOXC2 GLI2 SOX18
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.89 FOXC1 FOXC2 GLI2 SOX18 THAP1
4 in utero embryonic development GO:0001701 9.77 FOXC1 GLI2 SOX18
5 skeletal system development GO:0001501 9.7 FOXC1 FOXC2 GLI2
6 kidney development GO:0001822 9.65 FOXC1 FOXC2 GLI2
7 heart development GO:0007507 9.62 FOXC1 FOXC2 GLI2 SOX18
8 collagen fibril organization GO:0030199 9.61 FOXC1 FOXC2
9 ureteric bud development GO:0001657 9.6 FOXC1 FOXC2
10 blood vessel remodeling GO:0001974 9.58 FOXC1 FOXC2
11 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.57 FOXC1 FOXC2
12 intermediate filament cytoskeleton organization GO:0045104 9.56 ATXN3 TOR1A
13 artery morphogenesis GO:0048844 9.55 FOXC1 FOXC2
14 neural crest cell development GO:0014032 9.54 FOXC1 FOXC2
15 regulation of blood vessel size GO:0050880 9.51 FOXC1 FOXC2
16 cardiac muscle cell proliferation GO:0060038 9.46 FOXC1 FOXC2
17 lymphangiogenesis GO:0001946 9.43 FOXC2 SOX18
18 blood vessel development GO:0001568 9.43 FOXC1 FOXC2 SOX18
19 regulation of organ growth GO:0046620 9.4 FOXC1 FOXC2
20 paraxial mesoderm formation GO:0048341 9.37 FOXC1 FOXC2
21 negative regulation of apoptotic process involved in outflow tract morphogenesis GO:1902257 9.16 FOXC1 FOXC2
22 embryonic heart tube development GO:0035050 9.13 FOXC1 FOXC2 SOX18
23 lymph vessel development GO:0001945 8.8 FOXC1 FOXC2 SOX18

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 FOXC2 GLI2 SOX18 THAP1
2 sequence-specific DNA binding GO:0043565 9.55 FOXC1 FOXC2 GLI2 SOX18 THAP1
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 Hereditary Lymphedema Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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