MCID: FML063
MIFTS: 57
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Familial Glucocorticoid Deficiency
Categories:
Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Familial Glucocorticoid Deficiency:
Characteristics:Inheritance:
Autosomal recessive 58
Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Anatomical: Neuronal diseases Endocrine diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body.A shortage of adrenal hormones (adrenal insufficiency) causes the signs and symptoms of familial glucocorticoid deficiency. These signs and symptoms often begin in infancy or early childhood. Most affected children first develop low blood sugar (hypoglycemia). These hypoglycemic children can fail to grow and gain weight at the expected rate (failure to thrive). If left untreated, hypoglycemia can lead to seizures, learning difficulties, and other neurological problems. Hypoglycemia that is left untreated for prolonged periods can lead to neurological damage and death. Other features of familial glucocorticoid deficiency can include recurrent infections and skin coloring darker than that of other family members (hyperpigmentation).There are multiple types of familial glucocorticoid deficiency, which are distinguished by their genetic cause. MalaCards based summary: Familial Glucocorticoid Deficiency, also known as glucocorticoid deficiency, is related to glucocorticoid deficiency 1 and achalasia-addisonianism-alacrima syndrome. An important gene associated with Familial Glucocorticoid Deficiency is MC2R (Melanocortin 2 Receptor), and among its related pathways/superpathways are GPCR downstream signalling and Diseases of glycosylation. The drugs Dexamethasone acetate and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, adrenal cortex and cortex, and related phenotypes are decreased circulating cortisol level and failure to thrive GARD: 19 Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. Orphanet: 58 Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. Disease Ontology: 11 An adrenal cortex disease that is characterized by insufficent production of glucocorticoids. Wikipedia: 75 Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol... more... |
Human phenotypes related to Familial Glucocorticoid Deficiency:58 30 (show all 38)
GenomeRNAi Phenotypes related to Familial Glucocorticoid Deficiency according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Familial Glucocorticoid Deficiency:45
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Drugs for Familial Glucocorticoid Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 20)
Interventional clinical trials:
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Organs/tissues related to Familial Glucocorticoid Deficiency:
MalaCards :
Adrenal Gland,
Adrenal Cortex,
Cortex,
Kidney,
Brain,
Skin,
Pituitary
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Articles related to Familial Glucocorticoid Deficiency:(show top 50) (show all 519)
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ClinVar genetic disease variations for Familial Glucocorticoid Deficiency:5 (show all 37)
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Search
GEO
for disease gene expression data for Familial Glucocorticoid Deficiency.
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Pathways related to Familial Glucocorticoid Deficiency according to GeneCards Suite gene sharing:
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Cellular components related to Familial Glucocorticoid Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Familial Glucocorticoid Deficiency according to GeneCards Suite gene sharing:(show all 16)
Molecular functions related to Familial Glucocorticoid Deficiency according to GeneCards Suite gene sharing:(show all 12)
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