1. Mendelian
  2. Rare Disease Genes
  3. HES1

HES1 gene related symptoms and diseases

All the information presented here about the HES1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to HES1 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 HES1 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.

Rare diseases associated to HES1 gene

Here you will find a list of rare diseases related to the HES1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LYMPHANGIOLEIOMYOMATOSIS

Alternate names

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam, lymphangiomyomatosis

Description

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).

Most common symptoms of LYMPHANGIOLEIOMYOMATOSIS

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


More info about LYMPHANGIOLEIOMYOMATOSIS

SOURCES: OMIM ORPHANET MESH


Potential gene panels for HES1 gene

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1

More info about this panel
Taiwan.

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
United States.

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