LMPHM3
MCID: LYM147
MIFTS: 22

Lymphatic Malformation 3 (LMPHM3)

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 3

MalaCards integrated aliases for Lymphatic Malformation 3:

Name: Lymphatic Malformation 3 57 72 29 6
Lmphm3 57 72
Lymphedema, Hereditary, Ic, Formerly; Lmph1c, Formerly 57
Lymphedema, Hereditary, Ic, Formerly 57
Lymphedema Hereditary Type Ic 72
Lymphedema, Hereditary, 1c 72
Lmph1c, Formerly 57
Lmph1c 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance
onset in first or second decades
females tend to have earlier onset


HPO:

31
lymphatic malformation 3:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 613480
OMIM Phenotypic Series 57 PS153100
MeSH 44 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 05-Apr-2021)

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 endothelial, and related phenotypes are lymphedema and cellulitis

UniProtKB/Swiss-Prot : 72 Lymphatic malformation 3: 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

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:

31
# Description HPO Frequency HPO Source Accession
1 lymphedema 31 HP:0001004
2 cellulitis 31 HP:0100658
3 recurrent skin infections 31 HP:0001581

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 29 GJC2

Anatomical Context for Lymphatic Malformation 3

MalaCards organs/tissues related to Lymphatic Malformation 3:

40
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. 6 57
21266381 2011
2
GJC2 missense mutations cause human lymphedema. 57 6
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

Variations for Lymphatic Malformation 3

ClinVar genetic disease variations for Lymphatic Malformation 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJC2 NM_020435.4(GJC2):c.143C>T (p.Ser48Leu) SNV Pathogenic 2079 rs267606847 GRCh37: 1:228345602-228345602
GRCh38: 1:228157901-228157901
2 GJC2 NM_020435.4(GJC2):c.778C>T (p.Arg260Cys) SNV Pathogenic 2080 rs267606846 GRCh37: 1:228346237-228346237
GRCh38: 1:228158536-228158536
3 GJC2 NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) SNV Uncertain significance 445910 rs200334298 GRCh37: 1:228346693-228346693
GRCh38: 1:228158992-228158992

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

72
# 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

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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