inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Findings
No curated finding names inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.
Definition from the Mondo Disease Ontology (MONDO:0017337), read 2026-09-29. CC BY 4.0.
Features
51 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.
- Abnormal circulating cholesterol concentrationHPOHP:0003107
- Very frequent (80% to 99% of cases)
- Abnormal sex determinationHPOHP:0012244
- Very frequent (80% to 99% of cases)
- Abnormal urine potassium concentrationHPOHP:0012598
- Very frequent (80% to 99% of cases)
- Abnormality of prenatal development or birthHPOHP:0001197
- Very frequent (80% to 99% of cases)
- Abnormality of the Leydig cellsHPOHP:0010789
- Very frequent (80% to 99% of cases)
- Absence of secondary sex characteristicsHPOHP:0008187
- Very frequent (80% to 99% of cases)
Show the remaining 39
- Decreased circulating aldosterone concentrationHPOHP:0004319
- Very frequent (80% to 99% of cases)
- Decreased circulating androgen concentrationHPOHP:0030349
- Very frequent (80% to 99% of cases)
- Decreased circulating cortisol levelHPOHP:0008163
- Very frequent (80% to 99% of cases)
- Decreased fertilityHPOHP:0000144
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- DehydrationHPOHP:0001944
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.
- CYP11A1HGNC:2590
- Supportive · Orphanet · Autosomal recessive · 2021