Familial glucocorticoid deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: ACTH resistance
Number of Symptoms 11
OrphanetNr: 361
OMIM Id: 202200
202355
607398
609197
614736
ICD-10: E27.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic chronic primary adrenal insufficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001259) Coma 65 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0003154) Increased circulating ACTH level 8 / 7739
4
 (HPO:0008163) Decreased circulating cortisol level 5 / 7739
5
 (HPO:0005616) Accelerated skeletal maturation 46 / 7739
6
 (HPO:0001508) Failure to thrive 454 / 7739
7
 (HPO:0000098) Tall stature 74 / 7739
8
 (HPO:0000953) Hyperpigmentation of the skin 75 / 7739
9
 (HPO:0001988) Recurrent hypoglycemia 6 / 7739
10
 (HPO:0002719) Recurrent infections 107 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: