VEGFD gene related symptoms and diseases

All the information presented here about the VEGFD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to VEGFD gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Bronchiolitis Very Common - Between 80% and 100% cases
Macule Very Common - Between 80% and 100% cases
Hemoptysis Very Common - Between 80% and 100% cases
Pulmonary infiltrates Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with VEGFD gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Multiple renal cysts
  • Renal neoplasm
  • Atelectasis
  • Abnormality of female internal genitalia
  • Pneumothorax
  • Chylothorax
  • Emphysema
  • Abnormality of the lymphatic system

And 33 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to VEGFD gene

Here you will find a list of rare diseases related to the VEGFD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam, lymphangiomyomatosis


Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).


  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy



Potential gene panels for VEGFD gene

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

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