1. Mendelian
  2. Rare Diseases
  3. CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY

Corticosteroid-binding Globulin Deficiency

Table of contents:

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.

Genes related to Corticosteroid-binding Globulin Deficiency

  • SERPINA6

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Corticosteroid-binding Globulin Deficiency

  • Pain
  • Hypertension
  • Fatigue
  • Abnormality of metabolism/homeostasis
  • Depressivity
  • Confusion
  • Hepatic steatosis
  • Hypotension
  • Increased circulating cortisol level
  • Chronic fatigue

And another 3 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Corticosteroid-binding Globulin Deficiency Is also known as transcortin deficiency, cbg deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Corticosteroid-binding Globulin Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SERPINA6.

By Fulgent Genetics Fulgent Genetics (United States).

SERPINA6
Specificity
100 %
Genes
100 %

You can get up to -7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CILIARY DYSKINESIA, PRIMARY, 29; CILD29 MOEBIUS SYNDROME; MBS KBG SYNDROME; KBGS AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY OROFACIAL CLEFT 15; OFC15