Details of Disease

General Information of Disease (ID: DISIX1DZ)

• Disease Name: Leydig cell hypoplasia, type 1
• Synonyms: Leydig cell Hypoplasia, type 2; luteinizing hormone resistance, female; Leydig cell hypoplasia, type I; Leydig cell agenesis; Leydig cell hypoplasia with male pseudohermaphroditism; hypergonadotropic hypogonadism, Male, due to Lhcgr defect; Leydig cell hypoplasia, complete; Leydig cell hypoplasia, partial; leydig cell hypoplasia with hypergonadotropic hypogonadism; leydig cell hypoplasia with pseudohermaphroditism; Leydig cell hypoplasia caused by mutation in LHCGR; LHCGR Leydig cell hypoplasia
• Definition: Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS9AZZT: Leydig cell hypoplasia
  DISIX1DZ: Leydig cell hypoplasia, type 1
• Disease Identifiers:
  MONDO ID: MONDO_0009384
  MESH ID: C562567
  UMLS CUI: C0266432
  OMIM ID: 238320
  MedGen ID: 120576
  SNOMED CT ID: 56212008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LHCGR	TT2O4W9	Limited	Genetic Variation	[1]
LHCGR	TT2O4W9	Strong	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EGR4	OT4R3ECK	Strong	Biomarker	[3]
LHCGR	OTSVIJ6I	Strong	Autosomal recessive	[2]

References

• [1] Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1.J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):239-245. doi: 10.1515/jpem-2016-0445.
• [2] Normal prenatal but arrested postnatal sexual development of luteinizing hormone receptor knockout (LuRKO) mice. Mol Endocrinol. 2001 Jan;15(1):172-83. doi: 10.1210/mend.15.1.0582.
• [3] Molecular Pathology of Cryptorchidism-Induced Infertility.Sex Dev. 2015;9(5):269-78. doi: 10.1159/000442059. Epub 2015 Dec 8.