|
ARLIAK
MCID: LKN027
MIFTS: 23
|
Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate (ARLIAK)
Categories:
Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
|
|
|
|
||
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
57
73
28
5
38
16
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
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:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases Nephrological diseases
Orphanet: 58
Rare neurological diseases
Inborn errors of metabolism |
|
OMIM®: 57 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) (Updated 08-Dec-2022) 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, and related phenotypes are dysarthria and dysmetria UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by acute, reversible neurological deterioration during febrile illness. Patients exhibit reversible leukoencephalopathy and increased urinary excretion of alpha-ketoglutarate. |
|
|
Human phenotypes related to Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:30 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:618384 (Updated 08-Dec-2022) |
|
|
Organs/tissues related to Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:
MalaCards :
Brain
|
Articles related to Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:
|
Genes related to Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:5
UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:73
|
|
Search
GEO
for disease gene expression data for Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate.
|
|
|
|