Corticosteroid-binding globulin deficiency

Preferred Label : Corticosteroid-binding globulin deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cbg deficiency; Transcortin deficiency;

Included titles and symbols : Corticosteroid-binding globulin, elevated;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the serpin peptidase inhibitor, clade A, member 6 gene (SERPINA6, 122500.0001);

Laboratory abnormalities : Decreased serum cortisol; Decreased cortisol-binding globulin; Normal free urinary cortisol; Normal ACTH;

Prefixed ID : #611489;

Details

Origin ID

611489;

UMLS CUI

C1852529;

Automatic exact mappings (from CISMeF team)
- Corticosteroid-Binding globulin, elevated [MeSH Supplementary Concept]
- Corticosteroid-Binding globulin, elevated [MeSH concept]
Currated CISMeF NLP mapping
- Corticosteroid-Binding globulin deficiency [MeSH concept]
- Corticosteroid-Binding globulin deficiency [MeSH Supplementary Concept]
- Corticosteroid-binding globulin deficiency [ORDO Disease]
- Corticosteroid-binding globulin deficiency (disorder) [SNOMED CT concept]
- corticosteroid binding globulin deficiency [Disease (Nov.)]
- corticosteroid-binding globulin deficiency [DO Concept]
DO Cross reference
- corticosteroid-binding globulin deficiency [DO Concept]
Genes related to phenotype
- Serpin peptidase inhibitor, clade a, member 6 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Fatigue [HPO term]
- Hypertension [HPO term]
- Hypotension [HPO term]
- Increased muscle fatiguability [HPO term]
ORDO concept(s)
- Corticosteroid-binding globulin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Corticosteroid-Binding globulin deficiency [MeSH Supplementary Concept]
- Corticosteroid-Binding globulin deficiency [MeSH concept]
- Corticosteroid-binding globulin deficiency [ORDO Disease]
- Corticosteroid-binding globulin deficiency (disorder) [SNOMED CT concept]
- corticosteroid binding globulin deficiency [Disease (Nov.)]
- corticosteroid-binding globulin deficiency [DO Concept]

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