Corticosteroid-binding globulin deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: TRANSCORTIN DEFICIENCY CORTICOSTEROID-BINDING GLOBULIN, ELEVATED, INCLUDED
CBG DEFICIENCY
Transcortin deficiency
Number of Symptoms 11
OrphanetNr: 199247
OMIM Id: 611489
ICD-10: E27.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare adrenal disease
 -Rare endocrine disease
Rare genetic adrenal disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000822) Hypertension 224 / 7739
2
(HPO:0002615) Hypotension 52 / 7739
3
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
4
(HPO:0003750) Increased muscle fatiguability 8 / 7739
5
(OMIM) Normal free urinary cortisol 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Decreased cortisol-binding globulin 1 / 7739
8
(HPO:0003812) Phenotypic variability 129 / 7739
9
(OMIM) Normal ACTH 1 / 7739
10
(OMIM) Decreased serum cortisol 2 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Doe et al. (1965) found decreased levels of serum corticosteroid-binding globulin in 8 persons in 3 generations of a family. Male and females were affected similarly. There was no male-to-male transmission.

DeMoor et al. (1967) found ...

Molecular genetics OMIM Van Baelen et al. (1982, 1993) identified a variation in the CBG gene (L93H; 122500.0001), referred to as 'transcortin Leuven,' in 3 unrelated individuals from a population study. Family study of 1 of the individuals showed transmission of ...