LMPHM4
MCID: LYM148
MIFTS: 22

Lymphatic Malformation 4 (LMPHM4)

Categories: Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Lymphatic Malformation 4

MalaCards integrated aliases for Lymphatic Malformation 4:

Name: Lymphatic Malformation 4 57 72 6
Lmphm4 57 72
Lymphedema, Hereditary, Id, Formerly; Lmph1d, Formerly 57
Lymphedema, Hereditary, Id, Formerly 57
Lymphedema, Hereditary, 1d 72
Hereditary Lymphedema Id 72
Lmph1d, Formerly 57
Lmph1d 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
lymphatic malformation 4:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Lymphatic Malformation 4

UniProtKB/Swiss-Prot : 72 Lymphatic malformation 4: 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 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

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:

31
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962
2 lymphedema 31 HP:0001004
3 cellulitis 31 HP:0100658
4 toenail dysplasia 31 HP:0100797
5 hydrocele testis 31 HP:0000034

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

Drugs & Therapeutics for Lymphatic Malformation 4

Search Clinical Trials , NIH Clinical Center for Lymphatic Malformation 4

Genetic Tests for Lymphatic Malformation 4

Anatomical Context for Lymphatic Malformation 4

MalaCards organs/tissues related to Lymphatic Malformation 4:

40
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. 6 57
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 6
23410910 2013

Variations for Lymphatic Malformation 4

ClinVar genetic disease variations for Lymphatic Malformation 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VEGFC NM_005429.5(VEGFC):c.628C>T (p.Arg210Ter) SNV Pathogenic 140737 rs587777567 GRCh37: 4:177632729-177632729
GRCh38: 4:176711575-176711575
2 VEGFC NM_005429.5(VEGFC):c.571_572insTT (p.Pro191fs) Insertion Pathogenic 140736 rs587777566 GRCh37: 4:177632785-177632786
GRCh38: 4:176711631-176711632
3 VEGFC NM_005429.5(VEGFC):c.364A>G (p.Ile122Val) SNV Benign 993883 GRCh37: 4:177649120-177649120
GRCh38: 4:176727966-176727966
4 VEGFC NM_005429.5(VEGFC):c.182G>A (p.Arg61Gln) SNV Benign 994064 GRCh37: 4:177650866-177650866
GRCh38: 4:176729712-176729712

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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