Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency (DHFRD)

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OMIM 56 613839 KEGG 36 H01197 MeSH 43 D000749 D008661 ICD10 via Orphanet 33 D52.8 UMLS via Orphanet 72 C3151205

Orphanet 58 ORPHA319651 MedGen 41 C3151205 SNOMED-CT via HPO 68 127034005 135810007 16026008 18165001 224958001 230413002 258211005 278849000 302215000 398979000 415116008 418143002 432241000124101 50866000 52522001 53165003 78164000 79631006 80515008 85102008 more UMLS 71 C0268608 C3151205

UniProtKB/Swiss-Prot : ⁷³ Megaloblastic anemia due to dihydrofolate reductase deficiency: An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms.

MalaCards based summary : Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency, also known as dhfr deficiency, is related to megaloblastic anemia and transcobalamin ii deficiency, and has symptoms including ataxia, icterus and absence seizures. An important gene associated with Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency is DHFR (Dihydrofolate Reductase), and among its related pathways/superpathways are One carbon pool by folate and Folate biosynthesis. Affiliated tissues include neutrophil, and related phenotypes are global developmental delay and hepatomegaly

OMIM : ⁵⁶ 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. (613839)

KEGG : ³⁶ Dihydrofolate reductase (DHFR) deficiency is a recessive inborn error of metabolism characterized by megaloblastic anemia and cerebral folate deficiency, with variable neurological findings. It is caused by mutations in the DHFR gene.

Wikipedia : ⁷⁴ Dihydrofolate reductase, or DHFR, is an enzyme that reduces dihydrofolic acid to tetrahydrofolic acid,... more...

Clinical features from OMIM:

613839

Search Clinical Trials , NIH Clinical Center for Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency

Search GEO for disease gene expression data for Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency.