Lymphedema, Hereditary, Ic; Lmph1c

Description

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 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Lymphedema, Hereditary, Ic; Lmph1c

  • Nail dysplasia
  • Lymphedema
  • Recurrent skin infections
  • Cellulitis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Lymphedema, Hereditary, Ic; Lmph1c Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GJC2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GJC2
Specificity
100 %
Genes
100 %
GJC2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

GJC2
Specificity
100 %
Genes
100 %
GJC2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

GJC2
Specificity
100 %
Genes
100 %
GJC2 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GJC2
Specificity
100 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Test for Spastic Paraplegia 44.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

GJC2
Specificity
100 %
Genes
100 %
HSPAR panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

SACS, SPG11, SPG7, CCT5, PNPLA6, GJC2, SPART, SPG21, ZFYVE26, CYP7B1
Specificity
10 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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