SAA1 gene related symptoms and diseases

All the information presented here about the SAA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SAA1 gene

Symptoms // Phenotype % Cases
Hepatomegaly Very Common - Between 80% and 100% cases
Chronic kidney disease Very Common - Between 80% and 100% cases
Cardiac amyloidosis Very Common - Between 80% and 100% cases
Abnormal cardiac ventricle morphology Very Common - Between 80% and 100% cases
Renal amyloidosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SAA1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal oral mucosa morphology
  • Abnormal echocardiogram
  • Abnormal renal physiology
  • Enlarged kidney
  • Acute kidney injury
  • Amyloidosis
  • Malnutrition
  • Adrenal insufficiency

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SAA1 gene

Here you will find a list of rare diseases related to the SAA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AA AMYLOIDOSIS


Alternate names

AA AMYLOIDOSIS Is also known as secondary amyloidosis, inflammatory amyloidosis, reactive amyloidosis

Description

Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.

Most common symptoms of AA AMYLOIDOSIS

  • Hepatomegaly
  • Vomiting
  • Abnormal heart morphology
  • Abdominal pain
  • Hypothyroidism


More info about AA AMYLOIDOSIS

SOURCES: ORPHANET


Potential gene panels for SAA1 gene

Familial mediterranean fever Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Familial mediterranean fever that also includes the following genes: SAA1 TNFRSF1A MEFV

More info about this panel

SAA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SAA1 gene.

More info about this panel


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