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PedAM

Pediatric Disease Annotations & Medicines



   familial glucocorticoid deficiency
  

Disease ID 1452
Disease familial glucocorticoid deficiency
Definition
Abnormally low or absent production of glucocorticoids, characterized by unresponsiveness to adrenocorticotripic hormone. It is hereditary and potentially lethal.
Synonym
isolated glucocorticoid deficiency
Orphanet
UMLS
C4054695
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:4)
C0042769  |  virus infection  |  1
C0035078  |  renal failure  |  1
C0001623  |  adrenal failure  |  1
C0017668  |  focal segmental glomerulosclerosis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
TXNRD2  |  10587  |  ORPHANET
STAR  |  6770  |  ORPHANET
MRAP  |  56246  |  ORPHANET
MC2R  |  4158  |  ORPHANET
NNT  |  23530  |  ORPHANET
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:3)
4158  |  MC2R  |  infer
56246  |  MRAP  |  infer
6770  |  STAR  |  infer
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:5)
STAR  |  8p11.23
MRAP  |  21q22.11
NNT  |  5p12
MC2R  |  18p11.2
TXNRD2  |  22q11.21
Disease ID 1452
Disease familial glucocorticoid deficiency
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:4)
Disease ID 1452
Disease familial glucocorticoid deficiency
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)