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congenital lipoid adrenal hyperplasia due to STAR deficency (CLAH) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital lipoid adrenal hyperplasia due to STAR deficency

MONDO:0008725

Also known as:CLAHlipoid adrenal hyperplasiaLCAH

Find Clinical TrialsTrials

Overview

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.

GeneticsAutosomal recessive · STAR (chr 8)

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Hyperpigmentation of the skin, Increased circulating ACTH level, and Female external genitalia in individual with 46,XY karyotype; and common findings: Abnormal female external genitalia morphology, Hyperactive renin-angiotensin system, Fever, and Vomiting and others. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	3	Congenital adrenal hyperplasia, Decreased circulating cortisol level, Adrenal hyperplasia

Genetic Landscape

STAR function has not been fully characterized.

Congenital lipoid adrenal hyperplasia due to STAR deficency is associated with mutations in the STAR gene on chromosome 8.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for STAR is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital lipoid adrenal hyperplasia due to STAR deficency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 9 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

26 publications have been identified in PubMed for congenital lipoid adrenal hyperplasia due to STAR deficency. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (23%).

Research Type	Count	% of Total
Patient case studies	10	38%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 7:26 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:201710

Orphanet

European rare disease database

Orphanet:90790

GARD

Genetic and Rare Diseases Info Center

GARD:1465

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

congenital lipoid adrenal hyperplasia due to STAR deficency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital lipoid adrenal hyperplasia due to STAR deficency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications