Orphanet: Cystic fibrosis gastritis megaloblastic anemia syndrome

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Cystic fibrosis-gastritis-megaloblastic anemia syndrome

Disease definition

A rare genetic disease 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: E84.8
OMIM: 219721
UMLS: C2931402
MeSH: -
GARD: 3303
MedDRA: -

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Cystic fibrosis-gastritis-megaloblastic anemia syndrome

ORPHA:2575

A summary on this disease is available in Español (2015) Italiano (2015) Nederlands (2015) Polski ()

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