LMPH1D
MCID: LYM148
MIFTS: 24

Lymphatic Malformation 4 (LMPH1D)

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

Aliases & Classifications for Lymphatic Malformation 4

MalaCards integrated aliases for Lymphatic Malformation 4:

Name: Lymphatic Malformation 4 58
Lymphedema, Hereditary, Id 30 6
Lymphedema, Hereditary, Id, Formerly; Lmph1d, Formerly 58
Lymphedema, Hereditary, Id, Formerly 58
Lymphedema, Hereditary, Type Id 41
Lymphedema, Hereditary, 1d 76
Hereditary Lymphedema Id 76
Lmph1d, Formerly 58
Lmphm4 58
Lmph1d 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
lymphatic malformation 4:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Lymphatic Malformation 4

UniProtKB/Swiss-Prot : 76 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 : Lymphatic Malformation 4, also known as lymphedema, hereditary, id, is related to hereditary lymphedema id. An important gene associated with Lymphatic Malformation 4 is VEGFC (Vascular Endothelial Growth Factor C). Affiliated tissues include skin, testis and endothelial, and related phenotypes are hyperkeratosis and lymphedema

Description from OMIM: 615907

Related Diseases for Lymphatic Malformation 4

Diseases in the Lymphatic Malformations family:

Lymphatic Malformation 1 Lymphatic Malformation 5
Lymphatic Malformation 2 Lymphatic Malformation 3
Lymphatic Malformation 4 Lymphatic Malformation 6
Lymphatic Malformation 7

Diseases related to Lymphatic Malformation 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary lymphedema id 12.4

Symptoms & Phenotypes for Lymphatic Malformation 4

Human phenotypes related to Lymphatic Malformation 4:

33
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 33 HP:0000962
2 lymphedema 33 HP:0001004
3 cellulitis 33 HP:0100658
4 toenail dysplasia 33 HP:0100797
5 hydrocele testis 33 HP:0000034

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Lymphatic Malformation 4

Search Clinical Trials , NIH Clinical Center for Lymphatic Malformation 4

Genetic Tests for Lymphatic Malformation 4

Genetic tests related to Lymphatic Malformation 4:

# Genetic test Affiliating Genes
1 Lymphedema, Hereditary, Id 30 VEGFC

Anatomical Context for Lymphatic Malformation 4

MalaCards organs/tissues related to Lymphatic Malformation 4:

42
Skin, Testis, Endothelial

Publications for Lymphatic Malformation 4

Articles related to Lymphatic Malformation 4:

# Title Authors Year
1
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. ( 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. ( 23410910 )
2013

Variations for Lymphatic Malformation 4

ClinVar genetic disease variations for Lymphatic Malformation 4:

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_005429.5(VEGFC): c.628C> T (p.Arg210Ter) single nucleotide variant Pathogenic rs587777567 GRCh37 Chromosome 4, 177632729: 177632729
4 VEGFC NM_005429.5(VEGFC): c.628C> T (p.Arg210Ter) single nucleotide variant Pathogenic rs587777567 GRCh38 Chromosome 4, 176711575: 176711575

Expression for Lymphatic Malformation 4

Search GEO for disease gene expression data for Lymphatic Malformation 4.

Pathways for Lymphatic Malformation 4

GO Terms for Lymphatic Malformation 4

Sources for Lymphatic Malformation 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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