LMPH1D
MCID: LYM109
MIFTS: 22

Lymphedema, Hereditary, Id (LMPH1D)

Categories: Blood diseases, Cancer diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Lymphedema, Hereditary, Id

MalaCards integrated aliases for Lymphedema, Hereditary, Id:

Name: Lymphedema, Hereditary, Id 57 29 6 73
Lmph1d 57 12 75
Hereditary Lymphedema Id 12 75
Lymphedema, Hereditary, Type Id 40
Lymphedema, Hereditary, 1d 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset at birth or in early childhood
two unrelated families have been reported (last curated july 2014)


HPO:

32
lymphedema, hereditary, id:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Lymphedema, Hereditary, Id

UniProtKB/Swiss-Prot : 75 Lymphedema, hereditary, 1D: A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment.

MalaCards based summary : Lymphedema, Hereditary, Id, is also known as lmph1d. An important gene associated with Lymphedema, Hereditary, Id is VEGFC (Vascular Endothelial Growth Factor C). Affiliated tissues include skin and testis, and related phenotypes are hyperkeratosis and lymphedema

Disease Ontology : 12 A hereditary lymphedema characterized by autosomal dominant inheritance that has material basis in mutation in the VEGFC gene on chromosome 4q34.

Description from OMIM: 615907

Related Diseases for Lymphedema, Hereditary, Id

Symptoms & Phenotypes for Lymphedema, Hereditary, Id

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
hydrocele

Skin Nails Hair Skin:
hyperkeratosis over affected area
papillomatosis over affected area
fibrosis over affected area
cellulitis over affected area
deep skin creases in toes

Skin Nails Hair Nails:
dysplastic toenails
upslanting toenails

Muscle Soft Tissue:
lymphedema, lower limb
prominent veins, lower limbs
lymphoscintigraphy shows impaired lymphatic uptake and drainage
tortuous lymphatic tracts
evidence of lymphatic rerouting


Clinical features from OMIM:

615907

Human phenotypes related to Lymphedema, Hereditary, Id:

32
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962
2 lymphedema 32 HP:0001004
3 cellulitis 32 HP:0100658
4 toenail dysplasia 32 HP:0100797
5 hydrocele testis 32 HP:0000034

Drugs & Therapeutics for Lymphedema, Hereditary, Id

Search Clinical Trials , NIH Clinical Center for Lymphedema, Hereditary, Id

Genetic Tests for Lymphedema, Hereditary, Id

Genetic tests related to Lymphedema, Hereditary, Id:

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

Anatomical Context for Lymphedema, Hereditary, Id

MalaCards organs/tissues related to Lymphedema, Hereditary, Id:

41
Skin, Testis

Publications for Lymphedema, Hereditary, Id

Variations for Lymphedema, Hereditary, Id

ClinVar genetic disease variations for Lymphedema, Hereditary, Id:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VEGFC NM_005429.4(VEGFC): c.571_572insTT (p.Pro191Leufs) insertion Pathogenic rs587777566 GRCh37 Chromosome 4, 177632785: 177632786
2 VEGFC NM_005429.4(VEGFC): c.571_572insTT (p.Pro191Leufs) insertion Pathogenic rs587777566 GRCh38 Chromosome 4, 176711631: 176711632
3 VEGFC NM_005429.4(VEGFC): c.628C> T (p.Arg210Ter) single nucleotide variant Pathogenic rs587777567 GRCh37 Chromosome 4, 177632729: 177632729
4 VEGFC NM_005429.4(VEGFC): c.628C> T (p.Arg210Ter) single nucleotide variant Pathogenic rs587777567 GRCh38 Chromosome 4, 176711575: 176711575

Expression for Lymphedema, Hereditary, Id

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

Pathways for Lymphedema, Hereditary, Id

GO Terms for Lymphedema, Hereditary, Id

Sources for Lymphedema, Hereditary, Id

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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