LMPHM3
MCID: LYM147
MIFTS: 24

Lymphatic Malformation 3 (LMPHM3)

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 3

MalaCards integrated aliases for Lymphatic Malformation 3:

Name: Lymphatic Malformation 3 57 73 28 5 38
Lmphm3 57 73
Lymphedema, Hereditary, Ic, Formerly 57
Lymphedema Hereditary Type Ic 73
Lymphedema, Hereditary, 1c 73
Lmph1c, Formerly 57
Lmph1c 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
reduced penetrance
onset in first or second decades
females tend to have earlier onset


Classifications:



External Ids:

OMIM® 57 613480
OMIM Phenotypic Series 57 PS153100
MeSH 43 D008209

Summaries for Lymphatic Malformation 3

OMIM®: 57 Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (613480) (Updated 08-Dec-2022)

MalaCards based summary: Lymphatic Malformation 3, also known as lmphm3, is related to hereditary lymphedema ic. An important gene associated with Lymphatic Malformation 3 is GJC2 (Gap Junction Protein Gamma 2). Affiliated tissues include skin and endothelial, and related phenotypes are lymphedema and cellulitis

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. LMPHM3 is an autosomal dominant form with variable severity and reduced penetrance. Affected individuals manifest lymphedema of the lower limbs and some patients have lymphedema of the hands.

Related Diseases for Lymphatic Malformation 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary lymphedema ic 11.0

Symptoms & Phenotypes for Lymphatic Malformation 3

Human phenotypes related to Lymphatic Malformation 3:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lymphedema 30 HP:0001004
2 cellulitis 30 HP:0100658
3 recurrent skin infections 30 HP:0001581

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Skin:
cellulitis
recurrent skin infections

Muscle Soft Tissue:
lymphedema of the lower limbs
lymphedema of the hands (in some patients)

Clinical features from OMIM®:

613480 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lymphatic Malformation 3

Search Clinical Trials, NIH Clinical Center for Lymphatic Malformation 3

Genetic Tests for Lymphatic Malformation 3

Genetic tests related to Lymphatic Malformation 3:

# Genetic test Affiliating Genes
1 Lymphatic Malformation 3 28 GJC2

Anatomical Context for Lymphatic Malformation 3

Organs/tissues related to Lymphatic Malformation 3:

MalaCards : Skin, Endothelial

Publications for Lymphatic Malformation 3

Articles related to Lymphatic Malformation 3:

# Title Authors PMID Year
1
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. 57 5
21266381 2011
2
GJC2 missense mutations cause human lymphedema. 57 5
20537300 2010
3
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. 57
24744435 2014
4
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
23410910 2013
5
Laparoscopic management of benign splenic tumors in children. 62
36474737 2022

Variations for Lymphatic Malformation 3

ClinVar genetic disease variations for Lymphatic Malformation 3:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJC2 NM_020435.4(GJC2):c.778C>T (p.Arg260Cys) SNV Pathogenic
2080 rs267606846 GRCh37: 1:228346237-228346237
GRCh38: 1:228158536-228158536
2 GJC2 NM_020435.4(GJC2):c.143C>T (p.Ser48Leu) SNV Pathogenic
2079 rs267606847 GRCh37: 1:228345602-228345602
GRCh38: 1:228157901-228157901
3 GJC2 NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) SNV Uncertain Significance
445910 rs200334298 GRCh37: 1:228346693-228346693
GRCh38: 1:228158992-228158992
4 GJC2 NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu) SNV Uncertain Significance
872626 rs761261049 GRCh37: 1:228346658-228346658
GRCh38: 1:228158957-228158957
5 GJC2 NM_020435.4(GJC2):c.148G>A (p.Glu50Lys) SNV Uncertain Significance
1697235 GRCh37: 1:228345607-228345607
GRCh38: 1:228157906-228157906
6 GJC2 NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del) DEL Not Provided
943603 rs779077705 GRCh37: 1:228345879-228345905
GRCh38: 1:228158178-228158204

UniProtKB/Swiss-Prot genetic disease variations for Lymphatic Malformation 3:

73
# Symbol AA change Variation ID SNP ID
1 GJC2 p.Ser48Leu VAR_063877 rs267606847
2 GJC2 p.Arg260Cys VAR_063880 rs267606846

Expression for Lymphatic Malformation 3

Search GEO for disease gene expression data for Lymphatic Malformation 3.

Pathways for Lymphatic Malformation 3

GO Terms for Lymphatic Malformation 3

Sources for Lymphatic Malformation 3

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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