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Hypergonadotropic hypogonadism-cataract syndrome

Disease definition

A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.

ORPHA:2410

Classification level: Disorder
  • Synonym(s):
    • Lubinsky syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent
  • ICD-10: E29.1
  • OMIM: 240950
  • UMLS: C1855859
  • MeSH: -
  • GARD: 298
  • MedDRA: -

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