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LKPAT
MCID: LKN017
MIFTS: 23
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Leukoencephalopathy with Ataxia (LKPAT)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukoencephalopathy with Ataxia:
Characteristics:Orphanet epidemiological data:60
leukoencephalopathy with mild cerebellar ataxia and white matter edema
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
two peaks of onset, childhood and adult variable clinical features HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
35
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OMIM
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58
Leukoencephalopathy with ataxia is an autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient (ADC) values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles. The findings suggest myelin microvacuolation restricted to certain brain regions. Clinical features include ataxia and unstable gait; more variable abnormalities may include visual field defects, headaches, and learning disabilities (summary by Depienne et al., 2013). (615651)
MalaCards based summary : Leukoencephalopathy with Ataxia, also known as lkpat, is related to clcn2-related leukoencephalopathy and ataxia and polyneuropathy, adult-onset, and has symptoms including gait ataxia and headache. An important gene associated with Leukoencephalopathy with Ataxia is CLCN2 (Chloride Voltage-Gated Channel 2). Affiliated tissues include pons, brain and eye, and related phenotypes are visual field defect and optic neuropathy UniProtKB/Swiss-Prot : 76 Leukoencephalopathy with ataxia: An autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles, suggesting myelin microvacuolation. Clinical features include ataxia and unstable gait. More variable abnormalities may include visual field defects, headaches, and learning disabilities. |
Diseases related to Leukoencephalopathy with Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Leukoencephalopathy with Ataxia:33 (show all 7)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:615651UMLS symptoms related to Leukoencephalopathy with Ataxia:gait ataxia, headache |
Interventional clinical trials:
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MalaCards organs/tissues related to Leukoencephalopathy with Ataxia:42
Pons,
Brain,
Eye
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Articles related to Leukoencephalopathy with Ataxia:
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Genes related to Leukoencephalopathy with Ataxia (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy with Ataxia:76
ClinVar genetic disease variations for Leukoencephalopathy with Ataxia:6 (show top 50) (show all 78)
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Search
GEO
for disease gene expression data for Leukoencephalopathy with Ataxia.
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