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ARLIAK
MCID: LKN027
MIFTS: 12
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Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate (ARLIAK)
Categories:
Genetic diseases, Nephrological diseases, Neuronal diseases
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Aliases & Classifications for Leukoencephalopathy, Acute Reversible, with Increased Urinary...
MalaCards integrated aliases for Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:
Name: Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate
58
6
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
two unrelated patients have been reported (last curated april 2019) episodes are triggered by febrile illness symptoms during the acute illness mostly resolve variable severity and persistence of abnormal neurologic symptoms Classifications: |
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OMIM
:
58
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is an autosomal recessive disorder characterized by acute reversible neurologic deterioration in the context of a febrile illness. The disorder is associated with transient leukoencephalopathy on brain imaging concurrent with the acute episode, as well as persistently increased excretion of dicarboxylic acids, particularly alpha-ketoglutarate (summary by Dewulf et al., 2019). (618384)
MalaCards based summary : Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate, is also known as arliak. An important gene associated with Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate is SLC13A3 (Solute Carrier Family 13 Member 3). Affiliated tissues include brain. |
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Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:618384 |
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MalaCards organs/tissues related to Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:42
Brain
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Articles related to Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:
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Genes related to Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:6
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Search
GEO
for disease gene expression data for Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate.
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