MCID: LKN017
MIFTS: 19

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 57 75 29 6 40 73
Lkpat 57 75
Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema 59

Characteristics:

Orphanet epidemiological data:

59
leukoencephalopathy with mild cerebellar ataxia and white matter edema
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
leukoencephalopathy with ataxia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 615651
Orphanet 59 ORPHA363540
ICD10 via Orphanet 34 E75.2
UMLS 73 C3810242

Summaries for Leukoencephalopathy with Ataxia

OMIM : 57 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 and gait ataxia. An important gene associated with Leukoencephalopathy with Ataxia is CLCN2 (Chloride Voltage-Gated Channel 2). Affiliated tissues include pons and brain, and related phenotypes are abnormal chorioretinal morphology and visual field defect

UniProtKB/Swiss-Prot : 75 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 11.1

Symptoms & Phenotypes for Leukoencephalopathy with Ataxia

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Leukoencephalopathy with Ataxia:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abnormal chorioretinal morphology 32 occasional (7.5%) HP:0000532
2 visual field defect 32 occasional (7.5%) HP:0001123
3 optic neuropathy 32 occasional (7.5%) HP:0001138
4 gait ataxia 32 HP:0002066
5 limb ataxia 32 HP:0002070
6 headache 32 HP:0002315
7 leukoencephalopathy 32 HP:0002352

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 29 CLCN2

Anatomical Context for Leukoencephalopathy with Ataxia

MalaCards organs/tissues related to Leukoencephalopathy with Ataxia:

41
Pons, Brain

Publications for Leukoencephalopathy with Ataxia

Variations for Leukoencephalopathy with Ataxia

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

75
# 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 69)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN2 NM_004366.5(CLCN2): c.1730G> A (p.Arg577Gln) single nucleotide variant risk factor rs137852682 GRCh37 Chromosome 3, 184071575: 184071575
2 CLCN2 NM_004366.5(CLCN2): c.1730G> A (p.Arg577Gln) single nucleotide variant risk factor rs137852682 GRCh38 Chromosome 3, 184353787: 184353787
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.1709G> A (p.Trp570Ter) single nucleotide variant Pathogenic rs201330912 GRCh38 Chromosome 3, 184354113: 184354113
5 CLCN2 NM_004366.5(CLCN2): c.430_435delCTCATC (p.Leu144_Ile145del) deletion Pathogenic rs587777110 GRCh37 Chromosome 3, 184076016: 184076021
6 CLCN2 NM_004366.5(CLCN2): c.430_435delCTCATC (p.Leu144_Ile145del) deletion Pathogenic rs587777110 GRCh38 Chromosome 3, 184358228: 184358233
7 CLCN2 NM_004366.5(CLCN2): c.1499C> T (p.Ala500Val) single nucleotide variant Pathogenic rs587777111 GRCh37 Chromosome 3, 184072344: 184072344
8 CLCN2 NM_004366.5(CLCN2): c.1499C> T (p.Ala500Val) single nucleotide variant Pathogenic rs587777111 GRCh38 Chromosome 3, 184354556: 184354556
9 CLCN2 NM_004366.5(CLCN2): c.828dupG (p.Arg277Alafs) duplication Pathogenic rs587777112 GRCh37 Chromosome 3, 184075220: 184075220
10 CLCN2 NM_004366.5(CLCN2): c.828dupG (p.Arg277Alafs) duplication Pathogenic rs587777112 GRCh38 Chromosome 3, 184357432: 184357432
11 CLCN2 NM_004366.5(CLCN2): c.2386C> T (p.Gln796Ter) single nucleotide variant Pathogenic rs376823689 GRCh37 Chromosome 3, 184069830: 184069830
12 CLCN2 NM_004366.5(CLCN2): c.2386C> T (p.Gln796Ter) single nucleotide variant Pathogenic rs376823689 GRCh38 Chromosome 3, 184352042: 184352042
13 CLCN2 NM_004366.5(CLCN2): c.2279C> T (p.Ala760Val) single nucleotide variant Uncertain significance rs781034991 GRCh37 Chromosome 3, 184070112: 184070112
14 CLCN2 NM_004366.5(CLCN2): c.2279C> T (p.Ala760Val) single nucleotide variant Uncertain significance rs781034991 GRCh38 Chromosome 3, 184352324: 184352324
15 CLCN2 NM_004366.5(CLCN2): c.2273G> A (p.Ser758Asn) single nucleotide variant Uncertain significance rs753380048 GRCh38 Chromosome 3, 184352330: 184352330
16 CLCN2 NM_004366.5(CLCN2): c.2273G> A (p.Ser758Asn) single nucleotide variant Uncertain significance rs753380048 GRCh37 Chromosome 3, 184070118: 184070118
17 CLCN2 NM_004366.5(CLCN2): c.2240G> A (p.Arg747His) single nucleotide variant Uncertain significance rs144164281 GRCh38 Chromosome 3, 184352474: 184352474
18 CLCN2 NM_004366.5(CLCN2): c.2240G> A (p.Arg747His) single nucleotide variant Uncertain significance rs144164281 GRCh37 Chromosome 3, 184070262: 184070262
19 CLCN2 NM_004366.5(CLCN2): c.2173C> T (p.Arg725Trp) single nucleotide variant Likely benign rs114702742 GRCh37 Chromosome 3, 184070569: 184070569
20 CLCN2 NM_004366.5(CLCN2): c.2173C> T (p.Arg725Trp) single nucleotide variant Likely benign rs114702742 GRCh38 Chromosome 3, 184352781: 184352781
21 CLCN2 NM_004366.5(CLCN2): c.2154G> C (p.Glu718Asp) single nucleotide variant Benign rs2228292 GRCh37 Chromosome 3, 184070588: 184070588
22 CLCN2 NM_004366.5(CLCN2): c.2154G> C (p.Glu718Asp) single nucleotide variant Benign rs2228292 GRCh38 Chromosome 3, 184352800: 184352800
23 CLCN2 NM_004366.5(CLCN2): c.2003C> G (p.Thr668Ser) single nucleotide variant Uncertain significance rs9820367 GRCh37 Chromosome 3, 184071063: 184071063
24 CLCN2 NM_004366.5(CLCN2): c.2003C> G (p.Thr668Ser) single nucleotide variant Uncertain significance rs9820367 GRCh38 Chromosome 3, 184353275: 184353275
25 CLCN2 NM_004366.5(CLCN2): c.1957A> T (p.Arg653Ter) single nucleotide variant Pathogenic rs863225256 GRCh38 Chromosome 3, 184353321: 184353321
26 CLCN2 NM_004366.5(CLCN2): c.1957A> T (p.Arg653Ter) single nucleotide variant Pathogenic rs863225256 GRCh37 Chromosome 3, 184071109: 184071109
27 CLCN2 NM_004366.5(CLCN2): c.1937G> A (p.Arg646Gln) single nucleotide variant Uncertain significance rs115961753 GRCh37 Chromosome 3, 184071129: 184071129
28 CLCN2 NM_004366.5(CLCN2): c.1937G> A (p.Arg646Gln) single nucleotide variant Uncertain significance rs115961753 GRCh38 Chromosome 3, 184353341: 184353341
29 CLCN2 NM_004366.5(CLCN2): c.1930C> T (p.Arg644Cys) single nucleotide variant Uncertain significance rs148545588 GRCh38 Chromosome 3, 184353348: 184353348
30 CLCN2 NM_004366.5(CLCN2): c.1930C> T (p.Arg644Cys) single nucleotide variant Uncertain significance rs148545588 GRCh37 Chromosome 3, 184071136: 184071136
31 CLCN2 NM_004366.5(CLCN2): c.1856-3C> T single nucleotide variant Uncertain significance rs371193424 GRCh37 Chromosome 3, 184071213: 184071213
32 CLCN2 NM_004366.5(CLCN2): c.1856-3C> T single nucleotide variant Uncertain significance rs371193424 GRCh38 Chromosome 3, 184353425: 184353425
33 CLCN2 NM_004366.5(CLCN2): c.1795G> A (p.Asp599Asn) single nucleotide variant Pathogenic rs141242566 GRCh38 Chromosome 3, 184353722: 184353722
34 CLCN2 NM_004366.5(CLCN2): c.1795G> A (p.Asp599Asn) single nucleotide variant Pathogenic rs141242566 GRCh37 Chromosome 3, 184071510: 184071510
35 CLCN2 NM_004366.5(CLCN2): c.1507G> A (p.Gly503Arg) single nucleotide variant Pathogenic rs777105668 GRCh38 Chromosome 3, 184354548: 184354548
36 CLCN2 NM_004366.5(CLCN2): c.1507G> A (p.Gly503Arg) single nucleotide variant Pathogenic rs777105668 GRCh37 Chromosome 3, 184072336: 184072336
37 CLCN2 NM_004366.5(CLCN2): c.1422_1423delTG (p.Glu475Lysfs) deletion Pathogenic rs863225255 GRCh37 Chromosome 3, 184072420: 184072421
38 CLCN2 NM_004366.5(CLCN2): c.1422_1423delTG (p.Glu475Lysfs) deletion Pathogenic rs863225255 GRCh38 Chromosome 3, 184354632: 184354633
39 CLCN2 NM_004366.5(CLCN2): c.1412G> A (p.Arg471His) single nucleotide variant Pathogenic rs771507094 GRCh38 Chromosome 3, 184354643: 184354643
40 CLCN2 NM_004366.5(CLCN2): c.1412G> A (p.Arg471His) single nucleotide variant Pathogenic rs771507094 GRCh37 Chromosome 3, 184072431: 184072431
41 CLCN2 NM_004366.5(CLCN2): c.1397G> A (p.Gly466Glu) single nucleotide variant Pathogenic rs863225254 GRCh38 Chromosome 3, 184354658: 184354658
42 CLCN2 NM_004366.5(CLCN2): c.1397G> A (p.Gly466Glu) single nucleotide variant Pathogenic rs863225254 GRCh37 Chromosome 3, 184072446: 184072446
43 CLCN2 NM_004366.5(CLCN2): c.1304delT (p.Leu435Argfs) deletion Pathogenic rs863225253 GRCh37 Chromosome 3, 184073184: 184073184
44 CLCN2 NM_004366.5(CLCN2): c.1304delT (p.Leu435Argfs) deletion Pathogenic rs863225253 GRCh38 Chromosome 3, 184355396: 184355396
45 CLCN2 NM_004366.5(CLCN2): c.1143delT (p.Gly382Alafs) deletion Pathogenic rs863225252 GRCh38 Chromosome 3, 184355721: 184355721
46 CLCN2 NM_004366.5(CLCN2): c.1143delT (p.Gly382Alafs) deletion Pathogenic rs863225252 GRCh37 Chromosome 3, 184073509: 184073509
47 CLCN2 NM_004366.5(CLCN2): c.1113delCinsACTGCTCAT (p.Ser375Cysfs) indel Pathogenic rs863225251 GRCh37 Chromosome 3, 184073539: 184073539
48 CLCN2 NM_004366.5(CLCN2): c.1113delCinsACTGCTCAT (p.Ser375Cysfs) indel Pathogenic rs863225251 GRCh38 Chromosome 3, 184355751: 184355751
49 CLCN2 NM_004366.5(CLCN2): c.1015G> C (p.Val339Leu) single nucleotide variant Pathogenic rs532632165 GRCh37 Chromosome 3, 184074851: 184074851
50 CLCN2 NM_004366.5(CLCN2): c.1015G> C (p.Val339Leu) single nucleotide variant Pathogenic rs532632165 GRCh38 Chromosome 3, 184357063: 184357063

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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