GLUCOCORTICOID DEFICIENCY 4

General Information (adopted from Orphanet):

Synonyms, Signs: GCCD4
Number of Symptoms 10
OrphanetNr:
OMIM Id: 614736
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: Sort by abundance 

1
(HPO:0002173) Hypoglycemic seizures 19 / 7739
2
(HPO:0001508) Failure to thrive 454 / 7739
3
(HPO:0001943) Hypoglycemia 131 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Unresponsive to ACTH stimulation 1 / 7739
6
(OMIM) Normal renin level 1 / 7739
7
(OMIM) Low cortisol level 1 / 7739
8
(OMIM) Hyperpigmentation 24 / 7739
9
(OMIM) Normal aldosterone level 1 / 7739
10
(OMIM) Elevated ACTH 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of ...
Clinical Description OMIM Meimaridou et al. (2012) studied patients from 15 families with glucocorticoid deficiency (GCCD), all of whom were negative for mutation in genes known to cause GCCD. The patients, who were diagnosed between 6 months and 40 months of ...
Molecular genetics OMIM In the proband of a family with glucocorticoid deficiency (GCCD) mapping to chromosome 5p13-q12, Meimaridou et al. (2012) performed targeted exome sequencing followed by filtration, which yielded 5 variants for validation; only 1, a missense mutation in the ...