LKPAT
MCID: LKN017
MIFTS: 23

Leukoencephalopathy with Ataxia (LKPAT)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leukoencephalopathy with Ataxia

MalaCards integrated aliases for Leukoencephalopathy with Ataxia:

Name: Leukoencephalopathy with Ataxia 58 76 30 6 41 74
Lkpat 58 76
Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema 60

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:

33
leukoencephalopathy with ataxia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 615651
ICD10 via Orphanet 35 E75.2
Orphanet 60 ORPHA363540
UMLS 74 C3810242

Summaries for Leukoencephalopathy with Ataxia

OMIM : 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.

Related Diseases for Leukoencephalopathy with Ataxia

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

# Related Disease Score Top Affiliating Genes
1 clcn2-related leukoencephalopathy 11.7
2 ataxia and polyneuropathy, adult-onset 9.9

Symptoms & Phenotypes for Leukoencephalopathy with Ataxia

Human phenotypes related to Leukoencephalopathy with Ataxia:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual field defect 33 occasional (7.5%) HP:0001123
2 optic neuropathy 33 occasional (7.5%) HP:0001138
3 abnormal chorioretinal morphology 33 occasional (7.5%) HP:0000532
4 gait ataxia 33 HP:0002066
5 limb ataxia 33 HP:0002070
6 headache 33 HP:0002315
7 leukoencephalopathy 33 HP:0002352

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
gait ataxia
limb ataxia
headache
leukoencephalopathy
learning disabilities (in some patients)
more
Head And Neck Eyes:
visual field defects (in some patients)
chorioretinopathy (in some patients)
optic neuropathy (in some patients)

Clinical features from OMIM:

615651

UMLS symptoms related to Leukoencephalopathy with Ataxia:


gait ataxia, headache

Drugs & Therapeutics for Leukoencephalopathy with Ataxia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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 30 CLCN2

Anatomical Context for Leukoencephalopathy with Ataxia

MalaCards organs/tissues related to Leukoencephalopathy with Ataxia:

42
Pons, Brain, Eye

Publications for Leukoencephalopathy with Ataxia

Articles related to Leukoencephalopathy with Ataxia:

# Title Authors Year
1
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT). ( 28473625 )
2017
2
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. ( 23707145 )
2013

Variations for Leukoencephalopathy with Ataxia

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

76
# Symbol AA change Variation ID SNP ID
1 CLCN2 p.Ala500Val VAR_070977 rs587777111

ClinVar genetic disease variations for Leukoencephalopathy with Ataxia:

6 (show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN2 NM_004366.5(CLCN2): c.597dupG (p.Met200Aspfs) duplication Conflicting interpretations of pathogenicity rs515726131 GRCh37 Chromosome 3, 184075768: 184075768
2 CLCN2 NM_004366.5(CLCN2): c.597dupG (p.Met200Aspfs) duplication Conflicting interpretations of pathogenicity rs515726131 GRCh38 Chromosome 3, 184357980: 184357980
3 CLCN2 NM_004366.5(CLCN2): c.221-14_221-4delTTCCCTGCACC deletion Uncertain significance rs515726132 GRCh37 Chromosome 3, 184076605: 184076615
4 CLCN2 NM_004366.5(CLCN2): c.221-14_221-4delTTCCCTGCACC deletion Uncertain significance rs515726132 GRCh38 Chromosome 3, 184358817: 184358827
5 CLCN2 NM_004366.5(CLCN2): c.2144G> A (p.Gly715Glu) single nucleotide variant Uncertain significance rs137852681 GRCh37 Chromosome 3, 184070598: 184070598
6 CLCN2 NM_004366.5(CLCN2): c.2144G> A (p.Gly715Glu) single nucleotide variant Uncertain significance rs137852681 GRCh38 Chromosome 3, 184352810: 184352810
7 CLCN2 NM_004366.5(CLCN2): c.704G> A (p.Arg235Gln) single nucleotide variant Uncertain significance rs71318369 GRCh37 Chromosome 3, 184075476: 184075476
8 CLCN2 NM_004366.5(CLCN2): c.704G> A (p.Arg235Gln) single nucleotide variant Uncertain significance rs71318369 GRCh38 Chromosome 3, 184357688: 184357688
9 CLCN2 NM_004366.5(CLCN2): c.1730G> A (p.Arg577Gln) single nucleotide variant risk factor rs137852682 GRCh37 Chromosome 3, 184071575: 184071575
10 CLCN2 NM_004366.5(CLCN2): c.1730G> A (p.Arg577Gln) single nucleotide variant risk factor rs137852682 GRCh38 Chromosome 3, 184353787: 184353787
11 CLCN2 NM_004366.5(CLCN2): c.1709G> A (p.Trp570Ter) single nucleotide variant Pathogenic rs201330912 GRCh37 Chromosome 3, 184071901: 184071901
12 CLCN2 NM_004366.5(CLCN2): c.1709G> A (p.Trp570Ter) single nucleotide variant Pathogenic rs201330912 GRCh38 Chromosome 3, 184354113: 184354113
13 CLCN2 NM_004366.5(CLCN2): c.430_435del (p.Leu144_Ile145del) deletion Pathogenic rs587777110 GRCh37 Chromosome 3, 184076016: 184076021
14 CLCN2 NM_004366.5(CLCN2): c.430_435del (p.Leu144_Ile145del) deletion Pathogenic rs587777110 GRCh38 Chromosome 3, 184358228: 184358233
15 CLCN2 NM_004366.5(CLCN2): c.1499C> T (p.Ala500Val) single nucleotide variant Pathogenic rs587777111 GRCh37 Chromosome 3, 184072344: 184072344
16 CLCN2 NM_004366.5(CLCN2): c.1499C> T (p.Ala500Val) single nucleotide variant Pathogenic rs587777111 GRCh38 Chromosome 3, 184354556: 184354556
17 CLCN2 NM_004366.5(CLCN2): c.828dupG (p.Arg277Alafs) duplication Pathogenic rs587777112 GRCh37 Chromosome 3, 184075220: 184075220
18 CLCN2 NM_004366.5(CLCN2): c.828dupG (p.Arg277Alafs) duplication Pathogenic rs587777112 GRCh38 Chromosome 3, 184357432: 184357432
19 CLCN2 NM_004366.6(CLCN2): c.2386C> T (p.Gln796Ter) single nucleotide variant Likely pathogenic rs376823689 GRCh37 Chromosome 3, 184069830: 184069830
20 CLCN2 NM_004366.6(CLCN2): c.2386C> T (p.Gln796Ter) single nucleotide variant Likely pathogenic rs376823689 GRCh38 Chromosome 3, 184352042: 184352042
21 CLCN2 NM_004366.5(CLCN2): c.2279C> T (p.Ala760Val) single nucleotide variant Uncertain significance rs781034991 GRCh37 Chromosome 3, 184070112: 184070112
22 CLCN2 NM_004366.5(CLCN2): c.2279C> T (p.Ala760Val) single nucleotide variant Uncertain significance rs781034991 GRCh38 Chromosome 3, 184352324: 184352324
23 CLCN2 NM_004366.5(CLCN2): c.2273G> A (p.Ser758Asn) single nucleotide variant Uncertain significance rs753380048 GRCh38 Chromosome 3, 184352330: 184352330
24 CLCN2 NM_004366.5(CLCN2): c.2273G> A (p.Ser758Asn) single nucleotide variant Uncertain significance rs753380048 GRCh37 Chromosome 3, 184070118: 184070118
25 CLCN2 NM_004366.5(CLCN2): c.2240G> A (p.Arg747His) single nucleotide variant Uncertain significance rs144164281 GRCh38 Chromosome 3, 184352474: 184352474
26 CLCN2 NM_004366.5(CLCN2): c.2240G> A (p.Arg747His) single nucleotide variant Uncertain significance rs144164281 GRCh37 Chromosome 3, 184070262: 184070262
27 CLCN2 NM_004366.5(CLCN2): c.2173C> T (p.Arg725Trp) single nucleotide variant Likely benign rs114702742 GRCh37 Chromosome 3, 184070569: 184070569
28 CLCN2 NM_004366.5(CLCN2): c.2173C> T (p.Arg725Trp) single nucleotide variant Likely benign rs114702742 GRCh38 Chromosome 3, 184352781: 184352781
29 CLCN2 NM_004366.5(CLCN2): c.2154G> C (p.Glu718Asp) single nucleotide variant Benign rs2228292 GRCh37 Chromosome 3, 184070588: 184070588
30 CLCN2 NM_004366.5(CLCN2): c.2154G> C (p.Glu718Asp) single nucleotide variant Benign rs2228292 GRCh38 Chromosome 3, 184352800: 184352800
31 CLCN2 NM_004366.5(CLCN2): c.2003C> G (p.Thr668Ser) single nucleotide variant Uncertain significance rs9820367 GRCh37 Chromosome 3, 184071063: 184071063
32 CLCN2 NM_004366.5(CLCN2): c.2003C> G (p.Thr668Ser) single nucleotide variant Uncertain significance rs9820367 GRCh38 Chromosome 3, 184353275: 184353275
33 CLCN2 NM_004366.5(CLCN2): c.1957A> T (p.Arg653Ter) single nucleotide variant Pathogenic rs863225256 GRCh38 Chromosome 3, 184353321: 184353321
34 CLCN2 NM_004366.5(CLCN2): c.1957A> T (p.Arg653Ter) single nucleotide variant Pathogenic rs863225256 GRCh37 Chromosome 3, 184071109: 184071109
35 CLCN2 NM_004366.5(CLCN2): c.1937G> A (p.Arg646Gln) single nucleotide variant Uncertain significance rs115961753 GRCh37 Chromosome 3, 184071129: 184071129
36 CLCN2 NM_004366.5(CLCN2): c.1937G> A (p.Arg646Gln) single nucleotide variant Uncertain significance rs115961753 GRCh38 Chromosome 3, 184353341: 184353341
37 CLCN2 NM_004366.5(CLCN2): c.1930C> T (p.Arg644Cys) single nucleotide variant Uncertain significance rs148545588 GRCh38 Chromosome 3, 184353348: 184353348
38 CLCN2 NM_004366.5(CLCN2): c.1930C> T (p.Arg644Cys) single nucleotide variant Uncertain significance rs148545588 GRCh37 Chromosome 3, 184071136: 184071136
39 CLCN2 NM_004366.5(CLCN2): c.1856-3C> T single nucleotide variant Uncertain significance rs371193424 GRCh37 Chromosome 3, 184071213: 184071213
40 CLCN2 NM_004366.5(CLCN2): c.1856-3C> T single nucleotide variant Uncertain significance rs371193424 GRCh38 Chromosome 3, 184353425: 184353425
41 CLCN2 NM_004366.5(CLCN2): c.1795G> A (p.Asp599Asn) single nucleotide variant Pathogenic rs141242566 GRCh38 Chromosome 3, 184353722: 184353722
42 CLCN2 NM_004366.5(CLCN2): c.1795G> A (p.Asp599Asn) single nucleotide variant Pathogenic rs141242566 GRCh37 Chromosome 3, 184071510: 184071510
43 CLCN2 NM_004366.5(CLCN2): c.1507G> A (p.Gly503Arg) single nucleotide variant Pathogenic rs777105668 GRCh38 Chromosome 3, 184354548: 184354548
44 CLCN2 NM_004366.5(CLCN2): c.1507G> A (p.Gly503Arg) single nucleotide variant Pathogenic rs777105668 GRCh37 Chromosome 3, 184072336: 184072336
45 CLCN2 NM_004366.5(CLCN2): c.1422_1423delTG (p.Glu475Lysfs) deletion Pathogenic rs863225255 GRCh37 Chromosome 3, 184072420: 184072421
46 CLCN2 NM_004366.5(CLCN2): c.1422_1423delTG (p.Glu475Lysfs) deletion Pathogenic rs863225255 GRCh38 Chromosome 3, 184354632: 184354633
47 CLCN2 NM_004366.5(CLCN2): c.1412G> A (p.Arg471His) single nucleotide variant Pathogenic rs771507094 GRCh38 Chromosome 3, 184354643: 184354643
48 CLCN2 NM_004366.5(CLCN2): c.1412G> A (p.Arg471His) single nucleotide variant Pathogenic rs771507094 GRCh37 Chromosome 3, 184072431: 184072431
49 CLCN2 NM_004366.5(CLCN2): c.1397G> A (p.Gly466Glu) single nucleotide variant Pathogenic rs863225254 GRCh38 Chromosome 3, 184354658: 184354658
50 CLCN2 NM_004366.5(CLCN2): c.1397G> A (p.Gly466Glu) single nucleotide variant Pathogenic rs863225254 GRCh37 Chromosome 3, 184072446: 184072446

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

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