Leukoencephalopathy with Ataxia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LKN017 MIFTS: 19	Leukoencephalopathy with Ataxia Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Other sphingolipidosis

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 615651

Orphanet ⁵⁹ ORPHA363540

ICD10 via Orphanet ³⁴ E75.2

MedGen ⁴² C3810242 CN184653

MeSH ⁴⁴ D002524 D056784

SNOMED-CT via HPO ⁶⁹ 258211005 12184005 82108004 more

UMLS ⁷³ C3810242

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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.

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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

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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

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Drugs & Therapeutics for Leukoencephalopathy with Ataxia

Search Clinical Trials , NIH Clinical Center for Leukoencephalopathy with Ataxia

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Genetic Tests for Leukoencephalopathy with Ataxia

Genetic tests related to Leukoencephalopathy with Ataxia:

#	Genetic test	Affiliating Genes
1	Leukoencephalopathy with Ataxia ²⁹	CLCN2

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Anatomical Context for Leukoencephalopathy with Ataxia

MalaCards organs/tissues related to Leukoencephalopathy with Ataxia:

⁴¹

Pons, Brain

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Publications for Leukoencephalopathy with Ataxia

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Genes for Leukoencephalopathy with Ataxia

Genes related to Leukoencephalopathy with Ataxia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CLCN2	Chloride Voltage-Gated Channel 2	Protein Coding	1703.35	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	23707145 26539602

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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

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Expression for Leukoencephalopathy with Ataxia

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

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Pathways for Leukoencephalopathy with Ataxia

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GO Terms for Leukoencephalopathy with Ataxia

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