cystic fibrosis-gastritis-megaloblastic anemia syndrome
Findings
No curated finding names cystic fibrosis-gastritis-megaloblastic anemia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009062), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal erythrocyte morphologyHPOHP:0001877
- Very frequent (80% to 99% of cases)
- Deeply set eyeHPOHP:0000490
- Very frequent (80% to 99% of cases)
- DiarrheaHPOHP:0002014
- Very frequent (80% to 99% of cases)
- Folate-unresponsive megaloblastic anemiaHPOHP:0004826
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- GastritisHPOHP:0005263
- Very frequent (80% to 99% of cases)
Show the remaining 6
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
- Glanular hypospadiasHPOHP:0000807
- Frequent (30% to 79% of cases)
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Nephrotic syndromeHPOHP:0000100
- Frequent (30% to 79% of cases)
- Shawl scrotumHPOHP:0000049
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: cystic fibrosis-gastritis-megaloblastic anemia syndrome
- Also called
- Lubani-Al Saleh-Teebi syndrome