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  3. JAG2

JAG2 gene related symptoms and diseases

All the information presented here about the JAG2 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 JAG2 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 JAG2 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 JAG2 gene

Here you will find a list of rare diseases related to the JAG2. 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 JAG2 gene

JAG2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the JAG2 gene.

More info about this panel
United States.

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