MCID: HRD203
MIFTS: 14

Hereditary Lymphedema Id

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

Aliases & Classifications for Hereditary Lymphedema Id

MalaCards integrated aliases for Hereditary Lymphedema Id:

Name: Hereditary Lymphedema Id 12
Lymphedema, Hereditary, Id 29 6 70
Lymphedema, Hereditary, Type Id 39
Lmph1d 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070209
UMLS 70 C4014628

Summaries for Hereditary Lymphedema Id

Disease Ontology : 12 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

Genetic tests related to Hereditary Lymphedema Id:

# Genetic test Affiliating Genes
1 Lymphedema, Hereditary, Id 29 VEGFC

Anatomical Context for Hereditary Lymphedema Id

MalaCards organs/tissues related to Hereditary Lymphedema Id:

40
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. 6
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. 6
23410910 2013

Variations for Hereditary Lymphedema Id

ClinVar genetic disease variations for Hereditary Lymphedema Id:

6
# 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) Insertion 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 GRCh37: 4:177649120-177649120
GRCh38: 4:176727966-176727966
4 VEGFC NM_005429.5(VEGFC):c.182G>A (p.Arg61Gln) SNV Benign 994064 GRCh37: 4:177650866-177650866
GRCh38: 4:176729712-176729712

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

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....