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DHFRD
MCID: MGL012
MIFTS: 39
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Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency (DHFRD)
Categories:
Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency
MalaCards integrated aliases for Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency:
Characteristics:Orphanet epidemiological data:59
constitutional megaloblastic anemia with severe neurologic disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
variable severity severe form with onset at 3 to 4 months of age and severe developmental delay milder form with onset in childhood, absence seizures, and learning difficulties treatment with folinic acid offers some benefit for anemia and seizure control HPO:32
megaloblastic anemia due to dihydrofolate reductase deficiency:
Onset and clinical course variable expressivity Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Blood diseases
ICD10:
34
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UniProtKB/Swiss-Prot
:
75
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 fetal aminopterin syndrome and hyperphenylalaninemia, bh4-deficient, a, and has symptoms including ataxia, absence seizures and icterus. 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 lung, bone and neutrophil, and related phenotypes are ataxia and global developmental delay OMIM : 57 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) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613839Human phenotypes related to Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency:32 (show all 17)
UMLS symptoms related to Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency:ataxia, absence seizures, icterus |
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MalaCards organs/tissues related to Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency:41
Lung,
Bone,
Neutrophil,
Colon,
Myeloid
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Articles related to Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency:
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Genes related to Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency:75
ClinVar genetic disease variations for Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency:6
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Search
GEO
for disease gene expression data for Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency.
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