Megaloblastic anemia, folate-responsive

Preferred Label : Megaloblastic anemia, folate-responsive;

Symbol : MEGAF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Folate level in erythrocytes;

Prefixed ID : #601775;

Details

Origin ID

601775;

UMLS CUI

C2749656;

Genes related to phenotype
- Solute carrier family 19 (folate transporter), member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Episodic hemolytic anemia [HPO term]
- Erythroid dysplasia [HPO term]
- Folate-responsive megaloblastic anemia [HPO term]
- Hyperbilirubinemia [HPO term]
- Hyperhomocystinemia [HPO term]
- Hypersegmentation of neutrophil nuclei [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Juvenile onset [HPO term]
- Schistocytosis [HPO term]
- Vitamin B12 deficiency [HPO term]
ORDO concept(s)
- Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Folate-responsive megaloblastic anemia [HPO term]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients