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 39
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). Affiliated tissues include skin.

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 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 11.5

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

MalaCards organs/tissues related to Hereditary Lymphedema Id:

40
Skin

Publications for Hereditary Lymphedema Id

Variations for Hereditary Lymphedema Id

ClinVar genetic disease variations for Hereditary Lymphedema Id:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VEGFC NM_005429.5(VEGFC):c.571_572insTT (p.Pro191fs)insertion Pathogenic 140736 rs587777566 4:177632785-177632786 4:176711631-176711632
2 VEGFC NM_005429.5(VEGFC):c.628C>T (p.Arg210Ter)SNV Pathogenic 140737 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 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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