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Cystic fibrosis-gastritis-megaloblastic anemia syndrome

Disease definition

Cystic fibrosis-gastritis-megaloblastic anemia, or Lubani-Al Saleh-Teebi syndrome, is a rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.

ORPHA:2575

Classification level: Disorder
  • Synonym(s):
    • Lubani-Al Saleh-Teebi syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: -
  • OMIM: 219721
  • UMLS: C2931402
  • MeSH: -
  • GARD: 3303
  • MedDRA: -
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