Phenotypes associated with the disease megaloblastic anemia, folate-responsive (OMIM:601775):
- Decreased circulating vitamin B12 concentration (HP:0100502): The concentration of vitamin B12 in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:32276275)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:32276275)
- Folate-responsive megaloblastic anemia (HP:0004851): A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate. Evidence: PCS. Frequency: 1/1. (PMID:32276275)
- Schistocytosis (HP:0001981): The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. Evidence: PCS. Frequency: 1/1. (PMID:32276275)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: PCS. Frequency: 1/1. (PMID:32276275)
- Hyperhomocystinemia (HP:0002160): An increased concentration of homocystine in the blood. Evidence: PCS. Frequency: 1/1. (PMID:32276275)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:32276275)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:32276275)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:32276275)
- Episodic hemolytic anemia (HP:0004802): A form of hemolytic anemia that occurs in repeated episodes. Evidence: PCS. Frequency: 1/1. (PMID:32276275)
- Erythroid dysplasia (HP:0031688): Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. Evidence: PCS. Frequency: 1/1. (PMID:32276275)
- Hypersegmentation of neutrophil nuclei (HP:0004821): An excessive division of the lobes of the nucleus of a neutrophil. Evidence: PCS. Frequency: 1/1. Onset: Young adult onset (HP:0011462). (PMID:32276275)