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Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Disease definition

A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.

ORPHA:3085

Classification level: Disorder
  • Synonym(s):
    • Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome
    • Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 268020
  • UMLS: C1849401
  • MeSH: -
  • GARD: 4683
  • MedDRA: -
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