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Coats plus syndrome

Disease definition

Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

ORPHA:313838

Classification level: Disorder
  • Synonym(s):
    • CRMCC
    • Cerebroretinal microangiopathy with calcifications and cysts
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: H35.0
  • OMIM: 612199  617341
  • UMLS: C2677299
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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