Details of Disease

General Information of Disease (ID: DISYMJJV)

• Disease Name: Congenital isolated adrenocorticotropic hormone deficiency
• Synonyms: isolated adrenocorticotropic hormone deficiency; congenital isolated ACTH deficiency; isolated ACTH deficiency; ACTH deficiency, isolated; IAD; adrenocorticotropic hormone deficiency; congenital isolated adrenocorticotropic hormone deficiency (disease)
• Definition: A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.
• Disease Hierarchy:
  DISQ7QOC: Isolated congenital hypogonadotropic hypogonadism
  DISW6YL6: Combined pituitary hormone deficiencies, genetic form
  DISFF2OX: Non-acquired pituitary hormone deficiency
  DISYMJJV: Congenital isolated adrenocorticotropic hormone deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0008720
  MESH ID: C535668
  UMLS CUI: C0342388
  MedGen ID: 137968
  HPO ID: HP:0011748
  Orphanet ID: 199296
  SNOMED CT ID: 237692001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GH1	TTT3YKH	Disputed	Biomarker	[1]
BRD2	TTDP48B	Strong	Biomarker	[2]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LHX3	OTQ5BAJ9	Limited	Biomarker	[3]
LHX4	OTVX3J6S	moderate	Genetic Variation	[4]
PROP1	OT8GF6N8	moderate	Genetic Variation	[5]
HESX1	OT5E2Z4G	Strong	Genetic Variation	[6]
POU1F1	OTXT8A5C	Strong	Genetic Variation	[7]
TBX19	OTXEMR2U	Definitive	Autosomal recessive	[8]

References

• [1] Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.J Clin Endocrinol Metab. 2018 Mar 1;103(3):1042-1047. doi: 10.1210/jc.2017-02157.
• [2] A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency.Horm Res Paediatr. 2012;77(1):41-51. doi: 10.1159/000335929. Epub 2012 Jan 26.
• [3] A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature.Eur J Pediatr. 2011 Aug;170(8):1017-21. doi: 10.1007/s00431-011-1393-x. Epub 2011 Jan 20.
• [4] Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.PLoS One. 2015 May 8;10(5):e0126648. doi: 10.1371/journal.pone.0126648. eCollection 2015.
• [5] Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation.Gynecol Endocrinol. 2006 Dec;22(12):704-9. doi: 10.1080/09513590601030290.
• [6] Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe.Clin Endocrinol (Oxf). 2007 Jan;66(1):95-102. doi: 10.1111/j.1365-2265.2006.02692.x.
• [7] Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.J Clin Endocrinol Metab. 2005 Aug;90(8):4762-70. doi: 10.1210/jc.2005-0570. Epub 2005 May 31.
• [8] 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.