Corticosteroid-binding globulin deficiency
Synonyms: Transcortin deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Semi-dominant
- Age of onset
- Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Corticosteroid-binding globulin deficiency | Transcortin deficiency |
| fr | Déficit en transcortine | |
| de | CBG (Cortisol-bindendes Globulin)-Mangel | Transcortin-Mangel |
| es | Deficiencia de globulina de unión a corticosteroide | Deficiencia de transcortina |
| it | Deficit di transcortina | |
| nl | Deficiëntie van corticosteroïdbindend globuline | Deficiëntie van transcortine |
| pt | Deficiência de globulina de ligação a corticoesteróides | |
| pl | Niedobór globuliny wiążącej kortykosteroidy | Niedobór transkortyny |
| cs | Deficit globulinu vázajícího kortikosteroidy | Deficit transkortinu |
| uk | Дефіцит кортикостероїд-звязуючого глобуліну | Дефіцит транскортину |
| zh | 皮质类固醇结合球蛋白缺乏症 | 运皮质激素蛋白缺乏症 |
| tr | Kortikosteroid bağlayıcı globulin eksikliği | Transkortin eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611489 | E | validated | |
| ICD-10 | E27.8 | NTBT | attributed | validated |
| ICD-11 | 5A76.Y | NTBT | index | validated |
| MONDO | 0012675 | E | validated | |
| MeSH | C565152 | E | validated | |
| UMLS | C1852529 | E | validated | |
| GARD | 13101 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:101954Rare adrenal disease
rare endocrine diseases - ORPHA:183637Rare genetic adrenal disease
rare genetic diseases - ORPHA:250811Serpinopathy with loss of serpin function
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SERPINA6 | Disease-causing germline mutation(s) in | Assessed | HGNC:1540 | ENSG00000170099 | 122500 | 14q32.13 | serpin family A member 6 | 12780753[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199247
- This record as JSON: /data/d/199247.json