Lymphedema, Hereditary, Ia; Lmph1a

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). Genetic Heterogeneity of Hereditary Primary LymphedemaPrimary lymphedema is genetically heterogeneous: see also LMPH1B (OMIM ), which maps to chromosome 6q16.2-q22.1; LMPH1C (OMIM ), caused by mutation in the GJC2 gene (OMIM ) on chromosome 1q42; and LMPH1D (OMIM ), caused by mutation in the VEGFC gene (OMIM ) on chromosome 4q34. Hereditary lymphedema III (LMPH3 ) is caused by mutaiton in the PIEZO1 gene (OMIM ) on chromosome 16q24.Also see hereditary lymphedema type II (OMIM ), also known as Meige lymphedema.Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (OMIM ), which is caused by mutation in the FOXC2 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Lymphedema, Hereditary, Ia; Lmph1a

  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis
  • Ventricular septal defect
  • Edema
  • Arrhythmia
  • Photophobia
  • Pulmonic stenosis
  • Paresthesia

And another 22 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Alternative names

Lymphedema, Hereditary, Ia; Lmph1a Is also known as primary congenital lymphedema, pcl, nonne-milroy lymphedema, lymphedema, early-onset, milroy disease.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Lymphedema, Hereditary, Ia; Lmph1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
FLT4.

By Institute for Human Genetics University Clinic Freiburg (Germany).

FLT4
Specificity
100 %
Genes
100 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
FLT4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

FLT4
Specificity
100 %
Genes
100 %
Milroy disease (sequence analysis of 17 to 26 exon of FLT4 gene).

By CGC Genetics (Portugal).

FLT4
Specificity
100 %
Genes
100 %
Milroy disease (sequence analysis of FLT4 gene).

By CGC Genetics (Portugal).

FLT4
Specificity
100 %
Genes
100 %
Lymphedema Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SOX18, VEGFC, GJC2, FAT4, PIEZO1, CCBE1, FLT4, FOXC2, GATA2, GJA1, KIF11, PTPN14
Specificity
9 %
Genes
100 %
Milroy Disease (Lymphedema Type I) via FLT4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

FLT4
Specificity
100 %
Genes
100 %

We have 24 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2 PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more