MCID: HRD203
MIFTS: 11

Hereditary Lymphedema Id

Categories: Blood diseases, Cancer diseases, 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
Lymphedema, Hereditary, Type Id 40
Lmph1d 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070209

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).

Related Diseases for Hereditary Lymphedema Id

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

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 11.5

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

Publications for Hereditary Lymphedema Id

Variations for Hereditary Lymphedema Id

ClinVar genetic disease variations for Hereditary Lymphedema Id:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VEGFC NM_005429.5(VEGFC): c.571_572insTT (p.Pro191fs) insertion Pathogenic rs587777566 4:177632785-177632786 4:176711631-176711632
2 VEGFC NM_005429.5(VEGFC): c.628C> T (p.Arg210Ter) single nucleotide variant Pathogenic rs587777567 4:177632729-177632729 4:176711575-176711575

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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