Megaloblastic anemia due to dihydrofolate reductase deficiency

Preferred Label : Megaloblastic anemia due to dihydrofolate reductase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dhfr deficiency;

Description : Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dihydrofolate reductase gene (DHFR, 126060.0001);

Laboratory abnormalities : Normal serum folate; Decreased CSF tetrahydrofolate and 5-methyltetrahydrofolate; Decreased activity of dihydrofolate reductase;

Prefixed ID : #613839;

Details

Origin ID

613839;

UMLS CUI

C3151205;

Currated CISMeF NLP mapping
- Constitutional megaloblastic anemia with severe neurologic disease [ORDO Disease]
- Megaloblastic anaemia due to dihydrofolate reductase deficiency [ICD-11 More detail]
- Megaloblastic anemia due to dihydrofolate reductase deficiency (disorder) [SNOMED CT concept]
- megaloblastic anemia due to dihydrofolate reductase deficiency [MeSH concept]
- megaloblastic anemia due to dihydrofolate reductase deficiency [MeSH Supplementary Concept]
DO Cross reference
- megaloblastic anemia [DO Concept]
Genes related to phenotype
- Dihydrofolate reductase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Delayed myelination [HPO term]
- Eyelid myoclonus [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypotonia [HPO term]
- Jaundice [HPO term]
- Megaloblastic anemia [HPO term]
- Pallor [HPO term]
- Pancytopenia [HPO term]
- Poor head control [HPO term]
- Secondary microcephaly [HPO term]
- Thrombocytopenia [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Abnormal blood folate concentration [HPO term]
ORDO concept(s)
- Constitutional megaloblastic anemia with severe neurologic disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Constitutional megaloblastic anemia with severe neurologic disease [ORDO Disease]
- Megaloblastic anemia due to dihydrofolate reductase deficiency (disorder) [SNOMED CT concept]
- megaloblastic anemia due to dihydrofolate reductase deficiency [MeSH Supplementary Concept]
- megaloblastic anemia due to dihydrofolate reductase deficiency [MeSH concept]

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