MCID: LKN017
MIFTS: 20

Leukoencephalopathy with Ataxia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leukoencephalopathy with Ataxia

MalaCards integrated aliases for Leukoencephalopathy with Ataxia:

Name: Leukoencephalopathy with Ataxia 53 71 28 69
Lkpat 53 71
Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema 55

Characteristics:

Orphanet epidemiological data:

55
leukoencephalopathy with mild cerebellar ataxia and white matter edema
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
two peaks of onset, childhood and adult
variable clinical features


HPO:

31
leukoencephalopathy with ataxia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 615651
Orphanet 55 ORPHA363540
ICD10 via Orphanet 33 E75.2
UMLS 69 C3810242

Summaries for Leukoencephalopathy with Ataxia

OMIM : 53 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 has symptoms including headache, gait ataxia and limb ataxia. An important gene associated with Leukoencephalopathy with Ataxia is CLCN2 (Chloride Voltage-Gated Channel 2). Affiliated tissues include pons and brain.

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Leukoencephalopathy with Ataxia

Diseases related to Leukoencephalopathy with Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 clcn2-related leukoencephalopathy 11.1

Symptoms & Phenotypes for Leukoencephalopathy with Ataxia

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
headache
gait ataxia
limb ataxia
leukoencephalopathy
learning disabilities (in some patients)
more
HeadAndNeckEyes:
visual field defects (in some patients)
chorioretinopathy (in some patients)
optic neuropathy (in some patients)


Clinical features from OMIM:

615651

Human phenotypes related to Leukoencephalopathy with Ataxia:

31 (showing 7, show less)
# Description HPO Frequency HPO Source Accession
1 headache 31 HP:0002315
2 gait ataxia 31 HP:0002066
3 limb ataxia 31 HP:0002070
4 visual field defect 31 occasional (7.5%) HP:0001123
5 optic neuropathy 31 occasional (7.5%) HP:0001138
6 leukoencephalopathy 31 HP:0002352
7 abnormal chorioretinal morphology 31 occasional (7.5%) HP:0000532

UMLS symptoms related to Leukoencephalopathy with Ataxia:


headache, gait ataxia

Drugs & Therapeutics for Leukoencephalopathy with Ataxia

Search Clinical Trials , NIH Clinical Center for Leukoencephalopathy with Ataxia

Genetic Tests for Leukoencephalopathy with Ataxia

Genetic tests related to Leukoencephalopathy with Ataxia:

# Genetic test Affiliating Genes
1 Leukoencephalopathy with Ataxia 28 CLCN2

Anatomical Context for Leukoencephalopathy with Ataxia

MalaCards organs/tissues related to Leukoencephalopathy with Ataxia:

38
Pons, Brain

Publications for Leukoencephalopathy with Ataxia

Variations for Leukoencephalopathy with Ataxia

UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy with Ataxia:

71 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 CLCN2 p.Ala500Val VAR_070977 rs587777111

ClinVar genetic disease variations for Leukoencephalopathy with Ataxia:

6 (showing 20, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN2 NM_004366.5(CLCN2): c.704G> A (p.Arg235Gln) single nucleotide variant risk factor rs71318369 GRCh37 Chromosome 3, 184075476: 184075476
2 CLCN2 NM_004366.5(CLCN2): c.1730G> A (p.Arg577Gln) single nucleotide variant risk factor rs137852682 GRCh37 Chromosome 3, 184071575: 184071575
3 CLCN2 NM_004366.5(CLCN2): c.1709G> A (p.Trp570Ter) single nucleotide variant Pathogenic rs201330912 GRCh37 Chromosome 3, 184071901: 184071901
4 CLCN2 NM_004366.5(CLCN2): c.430_435delCTCATC (p.Leu144_Ile145del) deletion Pathogenic rs587777110 GRCh37 Chromosome 3, 184076016: 184076021
5 CLCN2 NM_004366.5(CLCN2): c.1499C> T (p.Ala500Val) single nucleotide variant Pathogenic rs587777111 GRCh37 Chromosome 3, 184072344: 184072344
6 CLCN2 NM_004366.5(CLCN2): c.828dupG (p.Arg277Alafs) duplication Pathogenic rs587777112 GRCh37 Chromosome 3, 184075220: 184075220
7 CLCN2 NM_004366.5(CLCN2): c.2386C> T (p.Gln796Ter) single nucleotide variant Pathogenic rs376823689 GRCh37 Chromosome 3, 184069830: 184069830
8 CLCN2 NM_004366.5(CLCN2): c.1957A> T (p.Arg653Ter) single nucleotide variant Pathogenic rs863225256 GRCh38 Chromosome 3, 184353321: 184353321
9 CLCN2 NM_004366.5(CLCN2): c.1795G> A (p.Asp599Asn) single nucleotide variant Pathogenic rs141242566 GRCh38 Chromosome 3, 184353722: 184353722
10 CLCN2 NM_004366.5(CLCN2): c.1507G> A (p.Gly503Arg) single nucleotide variant Pathogenic rs777105668 GRCh38 Chromosome 3, 184354548: 184354548
11 CLCN2 NM_004366.5(CLCN2): c.1422_1423delTG (p.Glu475Lysfs) deletion Pathogenic rs863225255 GRCh37 Chromosome 3, 184072420: 184072421
12 CLCN2 NM_004366.5(CLCN2): c.1412G> A (p.Arg471His) single nucleotide variant Pathogenic rs771507094 GRCh38 Chromosome 3, 184354643: 184354643
13 CLCN2 NM_004366.5(CLCN2): c.1397G> A (p.Gly466Glu) single nucleotide variant Pathogenic rs863225254 GRCh38 Chromosome 3, 184354658: 184354658
14 CLCN2 NM_004366.5(CLCN2): c.1304delT (p.Leu435Argfs) deletion Pathogenic rs863225253 GRCh37 Chromosome 3, 184073184: 184073184
15 CLCN2 NM_004366.5(CLCN2): c.1143delT (p.Gly382Alafs) deletion Pathogenic rs863225252 GRCh38 Chromosome 3, 184355721: 184355721
16 CLCN2 NM_004366.5(CLCN2): c.1113delCinsACTGCTCAT (p.Ser375Cysfs) indel Pathogenic rs863225251 GRCh37 Chromosome 3, 184073539: 184073539
17 CLCN2 NM_004366.5(CLCN2): c.1015G> C (p.Val339Leu) single nucleotide variant Pathogenic rs532632165 GRCh37 Chromosome 3, 184074851: 184074851
18 CLCN2 NM_004366.5(CLCN2): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic rs863225250 GRCh38 Chromosome 3, 184357240: 184357240
19 CLCN2 NM_004366.5(CLCN2): c.64-1107_639del (p.Met22LeufsTer5) deletion Pathogenic GRCh38 Chromosome 3, 184357833: 184360238
20 CLCN2 NM_004366.5(CLCN2): c.292G> C (p.Gly98Arg) single nucleotide variant Pathogenic rs863225249 GRCh38 Chromosome 3, 184358742: 184358742

Expression for Leukoencephalopathy with Ataxia

Search GEO for disease gene expression data for Leukoencephalopathy with Ataxia.

Pathways for Leukoencephalopathy with Ataxia

GO Terms for Leukoencephalopathy with Ataxia

Sources for Leukoencephalopathy with Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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42 MESH via Orphanet
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50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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