LMPHM4
MCID: LYM148
MIFTS: 24

Lymphatic Malformation 4 (LMPHM4)

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Lymphatic Malformation 4

MalaCards integrated aliases for Lymphatic Malformation 4:

Name: Lymphatic Malformation 4 57 73 28 5 38
Lmphm4 57 73
Lymphedema, Hereditary, Id, Formerly 57
Lymphedema, Hereditary, 1d 73
Hereditary Lymphedema Id 73
Lmph1d, Formerly 57
Lmph1d 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
onset at birth or in early childhood
two unrelated families have been reported (last curated july 2014)


HPO:

30
lymphatic malformation 4:
Onset and clinical course variable expressivity


Classifications:



Summaries for Lymphatic Malformation 4

UniProtKB/Swiss-Prot: 73 A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM4 is an autosomal dominant form with onset at birth or in early childhood. Affected individuals manifest lymphedema of lower limbs with prominent veins, and impaired lymphatic uptake and drainage. Additional features are nail dysplasia, skin hyperkeratosis and papillomatosis.

MalaCards based summary: Lymphatic Malformation 4, also known as lmphm4, 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

More information from OMIM: 615907 PS153100

Related Diseases for Lymphatic Malformation 4

Diseases in the Rare Lymphatic Malformation family:

Lymphatic Malformation 1 Lymphatic Malformation 5
Lymphatic Malformation 2 Lymphatic Malformation 3
Lymphatic Malformation 4 Lymphatic Malformation 6
Lymphatic Malformation 7 Lymphatic Malformation 8
Lymphatic Malformation 9 Lymphatic Malformation 10
Lymphatic Malformation 11 Lymphatic Malformation 12

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 11.3

Symptoms & Phenotypes for Lymphatic Malformation 4

Human phenotypes related to Lymphatic Malformation 4:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 30 HP:0000962
2 lymphedema 30 HP:0001004
3 cellulitis 30 HP:0100658
4 toenail dysplasia 30 HP:0100797
5 hydrocele testis 30 HP:0000034

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 Lymphatic Malformation 4 28 VEGFC

Anatomical Context for Lymphatic Malformation 4

Organs/tissues related to Lymphatic Malformation 4:

MalaCards : Skin, Testis, Endothelial

Publications for Lymphatic Malformation 4

Articles related to Lymphatic Malformation 4:

# Title Authors PMID Year
1
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. 57 5
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. 57 5
23410910 2013

Variations for Lymphatic Malformation 4

ClinVar genetic disease variations for Lymphatic Malformation 4:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VEGFC NM_005429.5(VEGFC):c.571_572insTT (p.Pro191fs) INSERT Pathogenic
140736 rs587777566 GRCh37: 4:177632785-177632786
GRCh38: 4:176711631-176711632
2 VEGFC NM_005429.5(VEGFC):c.628C>T (p.Arg210Ter) SNV Pathogenic
140737 rs587777567 GRCh37: 4:177632729-177632729
GRCh38: 4:176711575-176711575
3 VEGFC NM_005429.5(VEGFC):c.364A>G (p.Ile122Val) SNV Benign
993883 rs202135883 GRCh37: 4:177649120-177649120
GRCh38: 4:176727966-176727966
4 VEGFC NM_005429.5(VEGFC):c.182G>A (p.Arg61Gln) SNV Benign
994064 rs41278571 GRCh37: 4:177650866-177650866
GRCh38: 4:176729712-176729712
5 VEGFC NM_005429.5(VEGFC):c.140A>T (p.Glu47Val) SNV Benign
1330598 GRCh37: 4:177713326-177713326
GRCh38: 4:176792172-176792172

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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