congenital isolated adrenocorticotropic hormone deficiency
Findings
No curated finding names congenital isolated adrenocorticotropic hormone deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.
Definition from the Mondo Disease Ontology (MONDO:0008720), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Adrenocorticotropin deficient adrenal insufficiencyHPOHP:0011735
- Obligate (100% of cases)
- Decreased circulating cortisol levelHPOHP:0008163
- Obligate (100% of cases)
- Neonatal hypoglycemiaHPOHP:0001998
- Obligate (100% of cases)
- Adrenal hypoplasiaHPOHP:0000835
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- HyponatremiaHPOHP:0002902
- Very frequent (80% to 99% of cases)
- HypotensionHPOHP:0002615
- Very frequent (80% to 99% of cases)
- Hypoglycemic seizuresHPOHP:0002173
- Frequent (30% to 79% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Frequent (30% to 79% of cases)
- HepatitisHPOHP:0012115
- Occasional (5% to 29% of cases)
Reported absent (1)
- HyperkalemiaHPOHP:0002153
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TBX19HGNC:11596
- Definitive · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: congenital isolated adrenocorticotropic hormone deficiency
- Also called
- ACTH deficiencyadrenocorticotropic hormone deficiencycongenital isolated adrenocorticotropic hormone deficiency (disease)