x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Cerebellar ataxia-hypogonadism syndrome

Disease definition

Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

ORPHA:1173

Classification level: Disorder
  • Synonym(s):
    • Gordon-Holmes syndrome
    • Luteinizing hormone-releasing hormone deficiency with ataxia
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult, Childhood
  • ICD-10: G11.8
  • OMIM: 212840  605672
  • UMLS: C1859305
  • MeSH: C565870
  • GARD: 3314
  • MedDRA: -

  A summary on this disease is available in Deutsch (2003) Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf)

Detailed information

General public

Guidelines

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

Newborn screening

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.