Details of Disease | DrugMAP

General Information of Disease (ID: DISRLUI6)

Disease Name	Glucocorticoid deficiency 4
Synonyms	glucocorticoid deficiency 4 with or without mineralocorticoid deficiency; GCCD4; glucocorticoid deficiency 4, with or without mineralocorticoid deficiency; NNT familial glucocorticoid deficiency; familial glucocorticoid deficiency caused by mutation in NNT; glucocorticoid deficiency type 4; glucocorticoid deficiency 4
Definition	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.
Disease Hierarchy	DISG7TB4: Familial glucocorticoid deficiency DISRLUI6: Glucocorticoid deficiency 4
Disease Identifiers	MONDO ID MONDO_0013874 UMLS CUI C3553587 OMIM ID 614736 MedGen ID 766501

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NNT	TTKIH76	moderate	Biomarker	[1]
NNT	TTKIH76	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NNT	OTAIOGZK	Definitive	Autosomal recessive	[2]
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References

1	Genetic defects in pediatric-onset adrenal insufficiency in Japan.Eur J Endocrinol. 2017 Aug;177(2):187-194. doi: 10.1530/EJE-17-0027. Epub 2017 May 25.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.