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Constitutional megaloblastic anemia with severe neurologic disease
1 OMIM reference -
1 associated gene
13 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant spastic paraplegia type 13
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Synonym(s):
- DHFR deficiency
- Dihydrofolate reductase deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
DHFR P00374126060
No signs/symptoms info available.