MCID: LYM057
MIFTS: 19

Lymphedema, Hereditary, Ic

Categories: Genetic diseases, Immune diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Muscle diseases, Oral diseases, Cardiovascular diseases

Aliases & Classifications for Lymphedema, Hereditary, Ic

MalaCards integrated aliases for Lymphedema, Hereditary, Ic:

Name: Lymphedema, Hereditary, Ic 57 29 13 6 73
Lmph1c 57 75
Lymphedema, Hereditary, Type Ic 40
Lymphedema Hereditary Type Ic 75
Lymphedema, Hereditary, 1c 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
lymphedema, hereditary, ic:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 613480
MedGen 42 C3150732
MeSH 44 D008209
UMLS 73 C3150732

Summaries for Lymphedema, Hereditary, Ic

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 hereditary lymphedema, see LMPH1A (153100). (613480)

MalaCards based summary : Lymphedema, Hereditary, Ic, is also known as lmph1c. An important gene associated with Lymphedema, Hereditary, Ic is GJC2 (Gap Junction Protein Gamma 2). Affiliated tissues include skin, and related phenotypes are lymphedema and recurrent skin infections

UniProtKB/Swiss-Prot : 75 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 Lymphedema, Hereditary, Ic

Symptoms & Phenotypes for Lymphedema, Hereditary, Ic

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
recurrent skin infections
cellulitis

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


Clinical features from OMIM:

613480

Human phenotypes related to Lymphedema, Hereditary, Ic:

32
# Description HPO Frequency HPO Source Accession
1 lymphedema 32 HP:0001004
2 recurrent skin infections 32 HP:0001581
3 cellulitis 32 HP:0100658

Drugs & Therapeutics for Lymphedema, Hereditary, Ic

Search Clinical Trials , NIH Clinical Center for Lymphedema, Hereditary, Ic

Genetic Tests for Lymphedema, Hereditary, Ic

Genetic tests related to Lymphedema, Hereditary, Ic:

# Genetic test Affiliating Genes
1 Lymphedema, Hereditary, Ic 29 GJC2

Anatomical Context for Lymphedema, Hereditary, Ic

MalaCards organs/tissues related to Lymphedema, Hereditary, Ic:

41
Skin

Publications for Lymphedema, Hereditary, Ic

Variations for Lymphedema, Hereditary, Ic

UniProtKB/Swiss-Prot genetic disease variations for Lymphedema, Hereditary, Ic:

75
# 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 Lymphedema, Hereditary, Ic:

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 Lymphedema, Hereditary, Ic

Search GEO for disease gene expression data for Lymphedema, Hereditary, Ic.

Pathways for Lymphedema, Hereditary, Ic

GO Terms for Lymphedema, Hereditary, Ic

Sources for Lymphedema, Hereditary, Ic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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