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Summary
ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
612631
OMIM = Online Medalian Inheritance of Men
86817
9q34.11
rare
autosomal recessive
mutation in the AK1 gene
symptoms
anemia
hemolytic anemia
hepatomegaly (large liver)
jaundice
onset, childhood
onset, infancy
onset, neonatal
splenomegaly (large spleen)
laboratory finding
Hemoglobine g/dlblood
Literature
Oliveira R,et al.Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological FeaturesJIMD Rep33061-682017
Steenweg ME,et al.Leukoencephalopathy with thalamus and brainstem involvement and high lactate LTBL caused by EARS2 mutationsBrain13551387-13942012
Gupta A,et al.Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case reportBMC Res Notes903252016
Taskin BD,et al.Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 MutationJ Child Neurol317938-9412016
Talim B,et al.Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutationBrain1362e2282013
Ng YS,et al.The clinical, biochemical and genetic features associated with RMND1-related mitochondrial diseaseJ Med Genet002016