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Steroidogenic Acute Regulatory Protein Deficiency

MedGen UID:
1392176
Concept ID:
C4331349
Congenital Abnormality
Synonym: StAR Deficiency

Definition

Congenital lipoid adrenal hyperplasia (CLAH) due to loss-of-function mutations in the STAR gene, resulting in decreased or absent production of steroidogenic acute regulatory protein (StAR), which leads to deficient transport of cholesterol from the outer to the inner mitochondrial membrane. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSteroidogenic Acute Regulatory Protein Deficiency

Professional guidelines

PubMed

Phadte A, Dhole C, Hegishte S, Sarathi V, Lila A, Gada JV, Memon SS, Arya S, Karlekar M, Patil V, Varthakavi PK, Shah N, Bhagwat NM, Bandgar T
Clin Endocrinol (Oxf) 2024 May;100(5):431-440. Epub 2024 Feb 18 doi: 10.1111/cen.15032. PMID: 38368602

Recent clinical studies

Etiology

Phadte A, Dhole C, Hegishte S, Sarathi V, Lila A, Gada JV, Memon SS, Arya S, Karlekar M, Patil V, Varthakavi PK, Shah N, Bhagwat NM, Bandgar T
Clin Endocrinol (Oxf) 2024 May;100(5):431-440. Epub 2024 Feb 18 doi: 10.1111/cen.15032. PMID: 38368602
Gurpinar Tosun B, Guran T
Clin Endocrinol (Oxf) 2024 Oct;101(4):371-385. Epub 2023 Dec 21 doi: 10.1111/cen.15009. PMID: 38126084

Diagnosis

Phadte A, Dhole C, Hegishte S, Sarathi V, Lila A, Gada JV, Memon SS, Arya S, Karlekar M, Patil V, Varthakavi PK, Shah N, Bhagwat NM, Bandgar T
Clin Endocrinol (Oxf) 2024 May;100(5):431-440. Epub 2024 Feb 18 doi: 10.1111/cen.15032. PMID: 38368602
Gurpinar Tosun B, Guran T
Clin Endocrinol (Oxf) 2024 Oct;101(4):371-385. Epub 2023 Dec 21 doi: 10.1111/cen.15009. PMID: 38126084
Phadte A, Arya S, Sarathi V, Lila A, Maheshwari M, Memon SS, Rane A, Patil V, Rai K, Raghav D, Kunwar A, Bandgar T
Clin Endocrinol (Oxf) 2023 Mar;98(3):351-362. Epub 2022 Nov 17 doi: 10.1111/cen.14848. PMID: 36357326

Clinical prediction guides

Phadte A, Arya S, Sarathi V, Lila A, Maheshwari M, Memon SS, Rane A, Patil V, Rai K, Raghav D, Kunwar A, Bandgar T
Clin Endocrinol (Oxf) 2023 Mar;98(3):351-362. Epub 2022 Nov 17 doi: 10.1111/cen.14848. PMID: 36357326

Recent systematic reviews

Phadte A, Dhole C, Hegishte S, Sarathi V, Lila A, Gada JV, Memon SS, Arya S, Karlekar M, Patil V, Varthakavi PK, Shah N, Bhagwat NM, Bandgar T
Clin Endocrinol (Oxf) 2024 May;100(5):431-440. Epub 2024 Feb 18 doi: 10.1111/cen.15032. PMID: 38368602
Phadte A, Arya S, Sarathi V, Lila A, Maheshwari M, Memon SS, Rane A, Patil V, Rai K, Raghav D, Kunwar A, Bandgar T
Clin Endocrinol (Oxf) 2023 Mar;98(3):351-362. Epub 2022 Nov 17 doi: 10.1111/cen.14848. PMID: 36357326

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