megaloblastic anemia, folate-responsive
MONDO:0011141Mondo
Findings
No curated finding names megaloblastic anemia, folate-responsive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
10 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.
- Decreased circulating vitamin B12 concentrationHPOHP:0100502
- 1 of 1 reported patient
- Episodic hemolytic anemiaHPOHP:0004802
- 1 of 1 reported patient
- Erythroid dysplasiaHPOHP:0031688
- 1 of 1 reported patient
- Folate-responsive megaloblastic anemiaHPOHP:0004851
- 1 of 1 reported patient
- HyperbilirubinemiaHPOHP:0002904
- 1 of 1 reported patient
- HyperhomocystinemiaHPOHP:0002160
- 1 of 1 reported patient
- Hypersegmentation of neutrophil nucleiHPOHP:0004821
- 1 of 1 reported patient · Young adult onset
- Increased circulating ferritin concentrationHPOHP:0003281
- 1 of 1 reported patient
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 1 reported patient
- SchistocytosisHPOHP:0001981
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC19A1HGNC:10937
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: megaloblastic anemia, folate-responsive
- Also called
- folate level in erythrocytesMEGAF