LMPH1C
MCID: LYM147
MIFTS: 21

Lymphatic Malformation 3 (LMPH1C)

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 3

MalaCards integrated aliases for Lymphatic Malformation 3:

Name: Lymphatic Malformation 3 58
Lymphedema, Hereditary, Ic 30 13 6
Lymphedema, Hereditary, Ic, Formerly; Lmph1c, Formerly 58
Lymphedema, Hereditary, Ic, Formerly 58
Lymphedema, Hereditary, Type Ic 41
Lymphedema Hereditary Type Ic 76
Lymphedema, Hereditary, 1c 76
Lmph1c, Formerly 58
Lmphm3 58
Lmph1c 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
lymphatic malformation 3:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613480
MeSH 45 D008209
MedGen 43 C3150732

Summaries for Lymphatic Malformation 3

OMIM : 58 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)

MalaCards based summary : Lymphatic Malformation 3, also known as lymphedema, hereditary, ic, 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 related phenotypes are lymphedema and cellulitis

UniProtKB/Swiss-Prot : 76 Lymphedema, hereditary, 1C: 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.

Related Diseases for Lymphatic Malformation 3

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

# Related Disease Score Top Affiliating Genes
1 hereditary lymphedema ic 11.1

Symptoms & Phenotypes for Lymphatic Malformation 3

Human phenotypes related to Lymphatic Malformation 3:

33
# Description HPO Frequency HPO Source Accession
1 lymphedema 33 HP:0001004
2 cellulitis 33 HP:0100658
3 recurrent skin infections 33 HP:0001581

Symptoms via clinical synopsis from OMIM:

58
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

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 Lymphedema, Hereditary, Ic 30 GJC2

Anatomical Context for Lymphatic Malformation 3

MalaCards organs/tissues related to Lymphatic Malformation 3:

42
Skin

Publications for Lymphatic Malformation 3

Variations for Lymphatic Malformation 3

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

76
# Symbol AA change Variation ID SNP ID
1 GJC2 p.Ser48Leu VAR_063877 rs267606847
2 GJC2 p.Arg260Cys VAR_063880 rs267606846

ClinVar genetic disease variations for Lymphatic Malformation 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJC2 NM_020435.3(GJC2): c.143C> T (p.Ser48Leu) single nucleotide variant Pathogenic rs267606847 GRCh37 Chromosome 1, 228345602: 228345602
2 GJC2 NM_020435.3(GJC2): c.143C> T (p.Ser48Leu) single nucleotide variant Pathogenic rs267606847 GRCh38 Chromosome 1, 228157901: 228157901
3 GJC2 NM_020435.3(GJC2): c.778C> T (p.Arg260Cys) single nucleotide variant Pathogenic rs267606846 GRCh37 Chromosome 1, 228346237: 228346237
4 GJC2 NM_020435.3(GJC2): c.778C> T (p.Arg260Cys) single nucleotide variant Pathogenic rs267606846 GRCh38 Chromosome 1, 228158536: 228158536

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
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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