Details of Disease

General Information of Disease (ID: DISPM51J)

Disease Name Congenital lipoid adrenal hyperplasia due to STAR deficency
Synonyms
adrenal hyperplasia 1; congenital adrenal hyperplasia lipoid; lipoid congenital adrenal hyperplasia; LCAH; lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism; CLAH; lipoid adrenal hyperplasia
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.
Disease Hierarchy
DIS4V9SY: Inherited primary ovarian failure
DISG873W: Congenital adrenal hyperplasia
DISPM51J: Congenital lipoid adrenal hyperplasia due to STAR deficency
Disease Identifiers
MONDO ID
MONDO_0008725
MESH ID
C537027
UMLS CUI
C0342474
OMIM ID
201710
MedGen ID
83341
Orphanet ID
90790
SNOMED CT ID
44231009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
STAR TTEI40H Limited Genetic Variation [1]
CYP11A1 TTSYVO6 Strong Genetic Variation [2]
STAR TTEI40H Definitive Autosomal recessive [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STAR OTFEZ5AI Definitive Autosomal recessive [3]
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References

1 Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation.BMC Endocr Disord. 2018 Nov 6;18(1):78. doi: 10.1186/s12902-018-0307-6.
2 Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.J Clin Endocrinol Metab. 2011 Mar;96(3):792-8. doi: 10.1210/jc.2010-1828. Epub 2010 Dec 15.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.