U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Corticosteroid-binding globulin deficiency

MedGen UID:
343831
Concept ID:
C1852529
Disease or Syndrome
Synonyms: CBG DEFICIENCY; TRANSCORTIN DEFICIENCY
SNOMED CT: Corticosteroid-binding globulin deficiency (773728004); Transcortin deficiency (773728004)
Modes of inheritance:
Semidominant inheritance
MedGen UID:
1693292
Concept ID:
C5139139
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected.
 
Gene (location): SERPINA6 (14q32.13)
 
Monarch Initiative: MONDO:0012675
OMIM®: 611489
Orphanet: ORPHA199247

Definition

Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion. Many people with this condition have unusually low blood pressure (hypotension). Some affected individuals have a fatty liver or experience chronic pain, particularly in their muscles. These features vary among affected individuals, even those within the same family.

Many people with corticosteroid-binding globulin deficiency have only one or two of these features; others have no signs and symptoms of the disorder and are only diagnosed after a relative is found to be affected.

Some people with corticosteroid-binding globulin deficiency also have a condition called myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). The features of ME/CFS are prolonged fatigue that interferes with daily activities, as well as general symptoms, such as sore throat or headaches. [from MedlinePlus Genetics]

Clinical features

From HPO
Asthenia
MedGen UID:
2107
Concept ID:
C0004093
Sign or Symptom
A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Decreased urinary potassium
MedGen UID:
1682552
Concept ID:
C0878640
Finding
A decreased concentration of potassium(1+) in the urine.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Hypotension
MedGen UID:
5715
Concept ID:
C0020649
Finding
Low Blood Pressure, vascular hypotension.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Increased muscle fatiguability
MedGen UID:
892934
Concept ID:
C4025573
Finding
An abnormal, increased fatiguability of the musculature.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Reduced circulating cortisol-binding globulin concentration
MedGen UID:
1053369
Concept ID:
CN376756
Finding
The concentration of cortisol-binding globulin in the blood circulation is below the lower limit of normal.
Decreased circulating cortisol level
MedGen UID:
322961
Concept ID:
C1836623
Finding
Abnormally reduced concentration of cortisol in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCorticosteroid-binding globulin deficiency
Follow this link to review classifications for Corticosteroid-binding globulin deficiency in Orphanet.

Recent clinical studies

Etiology

Meyer EJ, Nenke MA, Davies ML, Chapman M, Rankin W, Rushworth RL, Torpy DJ
J Clin Endocrinol Metab 2022 May 17;107(6):1636-1646. doi: 10.1210/clinem/dgac035. PMID: 35152290
Brunner E, Baima J, Vieira TC, Vieira JG, Abucham J
Clin Endocrinol (Oxf) 2003 Jun;58(6):756-62. doi: 10.1046/j.1365-2265.2003.01783.x. PMID: 12780753

Diagnosis

Watanobe H, Nigawara T, Nasushita R, Sasaki S, Takebe K
Eur J Endocrinol 1995 Sep;133(3):317-9. doi: 10.1530/eje.0.1330317. PMID: 7581948

Prognosis

Meyer EJ, Nenke MA, Davies ML, Chapman M, Rankin W, Rushworth RL, Torpy DJ
J Clin Endocrinol Metab 2022 May 17;107(6):1636-1646. doi: 10.1210/clinem/dgac035. PMID: 35152290

Clinical prediction guides

Meyer EJ, Nenke MA, Davies ML, Chapman M, Rankin W, Rushworth RL, Torpy DJ
J Clin Endocrinol Metab 2022 May 17;107(6):1636-1646. doi: 10.1210/clinem/dgac035. PMID: 35152290
Joyner JM, Hutley LJ, Bachmann AW, Torpy DJ, Prins JB
Am J Physiol Endocrinol Metab 2003 May;284(5):E1049-54. Epub 2003 Jan 28 doi: 10.1152/ajpendo.00262.2002. PMID: 12554596
Torpy DJ, Bachmann AW, Grice JE, Fitzgerald SP, Phillips PJ, Whitworth JA, Jackson RV
J Clin Endocrinol Metab 2001 Aug;86(8):3692-700. doi: 10.1210/jcem.86.8.7724. PMID: 11502797

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...