GLUCOCORTICOID DEFICIENCY 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
GCCD2, FORMERLY GLUCOCORTICOID DEFICIENCY 2, FORMERLY FAMILIAL GLUCOCORTICOID DEFICIENCY 3 GCCD3 FGD3 |
| Number of Symptoms | 9 |
| OrphanetNr: | |
| OMIM Id: |
609197
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0008163) | Decreased circulating cortisol level | 5 / 7739 | ||||
|
|
(HPO:0000953) | Hyperpigmentation of the skin | 75 / 7739 | ||||
|
|
(HPO:0001988) | Recurrent hypoglycemia | 6 / 7739 | ||||
|
|
(HPO:0001943) | Hypoglycemia | 131 / 7739 | ||||
|
|
(OMIM) | Normal plasma renin | 3 / 7739 | ||||
|
|
(OMIM) | Normal plasma aldosterone | 3 / 7739 | ||||
|
|
(OMIM) | Hyperpigmentation | 24 / 7739 | ||||
|
|
(OMIM) | Elevated plasma adrenocorticotropic hormone (ACTH) | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|