congenital lipoid adrenal hyperplasia due to STAR deficency
Findings
No curated finding names congenital lipoid adrenal hyperplasia due to STAR deficency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
Definition from the Mondo Disease Ontology (MONDO:0008725), read 2026-09-29. CC BY 4.0.
Features
25 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.
- Female external genitalia in individual with 46,XY karyotypeHPOHP:0008730
- Very frequent (80% to 99% of cases)
- Hyperpigmentation of the skinHPOHP:0000953
- Very frequent (80% to 99% of cases)
- Increased circulating ACTH levelHPOHP:0003154
- Very frequent (80% to 99% of cases)
- Abnormal circulating androgen levelHPOHP:0030347
- Frequent (30% to 79% of cases)
- Abnormal female external genitalia morphologyHPOHP:0000055
- Frequent (30% to 79% of cases)
- Adrenal hyperplasiaHPOHP:0008221
- Frequent (30% to 79% of cases)
- Decreased circulating cortisol levelHPOHP:0008163
- Frequent (30% to 79% of cases)
- FeverHPOHP:0001945
- Frequent (30% to 79% of cases)
- Hyperactive renin-angiotensin systemHPOHP:0000841
- Frequent (30% to 79% of cases)
- HyperkalemiaHPOHP:0002153
- Frequent (30% to 79% of cases)
- HyponatremiaHPOHP:0002902
- Frequent (30% to 79% of cases)
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
Show the remaining 13
- Abnormality of the nervous systemHPOHP:0000707
- Occasional (5% to 29% of cases)
- Avascular necrosisHPOHP:0010885
- Occasional (5% to 29% of cases)
- EncephalopathyHPOHP:0001298
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
- HypoglycemiaHPOHP:0001943
- Occasional (5% to 29% of cases)
- JaundiceHPOHP:0000952
- Occasional (5% to 29% of cases)
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.
- STARHGNC:11359
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: congenital lipoid adrenal hyperplasia due to STAR deficency
- Also called
- CLAHlipoid adrenal hyperplasia