1. Mendelian
  2. Rare Disease Genes
  3. SERPINA6

SERPINA6 gene related symptoms and diseases

All the information presented here about the SERPINA6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to SERPINA6 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Hypertension Very Common - Between 80% and 100% cases
Fatigue Very Common - Between 80% and 100% cases
Abnormality of metabolism/homeostasis Very Common - Between 80% and 100% cases
Depressivity Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SERPINA6 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Confusion
  • Hepatic steatosis
  • Hypotension
  • Increased circulating cortisol level
  • Chronic fatigue
  • Chronic pain
  • Increased muscle fatiguability
  • Asthenia

Rare diseases associated to SERPINA6 gene

Here you will find a list of rare diseases related to the SERPINA6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY

Alternate names

CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY Is also known as transcortin deficiency, cbg deficiency

Description

Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.

Most common symptoms of CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY

  • Pain
  • Hypertension
  • Fatigue
  • Abnormality of metabolism/homeostasis
  • Depressivity


More info about CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for SERPINA6 gene

SERPINA6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SERPINA6 gene.

More info about this panel
United States.

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