MCID: HRD203
MIFTS: 13

Hereditary Lymphedema Id

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Hereditary Lymphedema Id

MalaCards integrated aliases for Hereditary Lymphedema Id:

Name: Hereditary Lymphedema Id 11
Lymphedema, Hereditary, Id 5 71
Lmph1d 11

Classifications:



External Ids:

Disease Ontology 11 DOID:0070209
UMLS 71 C4014628

Summaries for Hereditary Lymphedema Id

Disease Ontology: 11 A hereditary lymphedema characterized by autosomal dominant inheritance that has material basis in mutation in the VEGFC gene on chromosome 4q34.

MalaCards based summary: Hereditary Lymphedema Id, also known as lymphedema, hereditary, id, is related to lymphatic malformation 4. An important gene associated with Hereditary Lymphedema Id is VEGFC (Vascular Endothelial Growth Factor C). Affiliated tissues include endothelial.

Related Diseases for Hereditary Lymphedema Id

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 Id via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 4 11.3

Symptoms & Phenotypes for Hereditary Lymphedema Id

Drugs & Therapeutics for Hereditary Lymphedema Id

Search Clinical Trials, NIH Clinical Center for Hereditary Lymphedema Id

Genetic Tests for Hereditary Lymphedema Id

Anatomical Context for Hereditary Lymphedema Id

Organs/tissues related to Hereditary Lymphedema Id:

MalaCards : Endothelial

Publications for Hereditary Lymphedema Id

Articles related to Hereditary Lymphedema Id:

# Title Authors PMID Year
1
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. 5
24744435 2014
2
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. 5
23410910 2013

Variations for Hereditary Lymphedema Id

ClinVar genetic disease variations for Hereditary Lymphedema Id:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VEGFC NM_005429.5(VEGFC):c.628C>T (p.Arg210Ter) SNV Pathogenic
140737 rs587777567 GRCh37: 4:177632729-177632729
GRCh38: 4:176711575-176711575
2 VEGFC NM_005429.5(VEGFC):c.571_572insTT (p.Pro191fs) INSERT Pathogenic
140736 rs587777566 GRCh37: 4:177632785-177632786
GRCh38: 4:176711631-176711632
3 VEGFC NM_005429.5(VEGFC):c.364A>G (p.Ile122Val) SNV Benign
993883 rs202135883 GRCh37: 4:177649120-177649120
GRCh38: 4:176727966-176727966
4 VEGFC NM_005429.5(VEGFC):c.182G>A (p.Arg61Gln) SNV Benign
994064 rs41278571 GRCh37: 4:177650866-177650866
GRCh38: 4:176729712-176729712
5 VEGFC NM_005429.5(VEGFC):c.140A>T (p.Glu47Val) SNV Benign
1330598 GRCh37: 4:177713326-177713326
GRCh38: 4:176792172-176792172

Expression for Hereditary Lymphedema Id

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

Pathways for Hereditary Lymphedema Id

GO Terms for Hereditary Lymphedema Id

Sources for Hereditary Lymphedema Id

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....