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Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Disease definition

A rare endocrine syndrome characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa.

ORPHA:2235

Classification level: Disorder
  • Synonym(s):
    • Chang-Davidson-Carlson syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: No data available
  • ICD-10: -
  • OMIM: -
  • UMLS: C2931722
  • MeSH: -
  • GARD: 1234
  • MedDRA: -

  A summary on this disease is available in Deutsch (2009) Español (2009) Italiano (2009) Nederlands (2009) Português (2009)

Detailed information

Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.