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

LKPAT MCID: LKN017 MIFTS: 28	Leukoencephalopathy with Ataxia (LKPAT) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes 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 ⁷² ²⁹ ⁶ ³⁹ ⁷⁰

Lkpat ⁵⁷ ⁷²

Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

leukoencephalopathy with ataxia:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Other sphingolipidosis

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

OMIM® ⁵⁷ 615651

MeSH ⁴⁴ D002524 D056784

ICD10 via Orphanet ³³ E75.2

Orphanet ⁵⁸ ORPHA363540

MedGen ⁴¹ C3810242 C4554120 CN184653

SNOMED-CT via HPO ⁶⁸ 12184005 22811006 25064002 more

UMLS ⁷⁰ 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) (Updated 20-May-2021)

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 headache and gait ataxia. An important gene associated with Leukoencephalopathy with Ataxia is CLCN2 (Chloride Voltage-Gated Channel 2). Affiliated tissues include pons, eye and brain, and related phenotypes are optic neuropathy and visual field defect

UniProtKB/Swiss-Prot : ⁷² 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
1	clcn2-related leukoencephalopathy	11.3
2	ataxia and polyneuropathy, adult-onset	10.0
3	leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	9.9
4	polr3-related leukodystrophy	9.9

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Symptoms & Phenotypes for Leukoencephalopathy with Ataxia

Human phenotypes related to Leukoencephalopathy with Ataxia:

³¹ (show all 7)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Neurologic Central Nervous System:
headache
gait ataxia
leukoencephalopathy
limb ataxia
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 (Updated 20-May-2021)

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

Sources

Anatomical Context for Leukoencephalopathy with Ataxia

MalaCards organs/tissues related to Leukoencephalopathy with Ataxia:

⁴⁰

Pons, Eye, Brain

Sources

Publications for Leukoencephalopathy with Ataxia

Articles related to Leukoencephalopathy with Ataxia:

#	Title	Authors	PMID	Year
1	Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. ⁶ ⁵⁷	Depienne C...van der Knaap MS	23707145	2013
2	Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation. ⁶	Hanagasi HA...Emre M	25745790	2015
3	Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation. ⁶	Di Bella D...Salsano E	25128180	2014
4	Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. ⁶	Klassen T...Noebels J	21703448	2011
5	Leukoencephalopathy upon disruption of the chloride channel ClC-2. ⁵⁷	Blanz J...Jentsch TJ	17567819	2007
6	Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. ⁶	Haug K...Heils A	12612585	2003
7	Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption. ⁵⁷	Bosl MR...Jentsch TJ	11250895	2001
8	A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT). ⁶¹	Giorgio E...Brusco A	28473625	2017
9	Assessment of myelination in hypomyelinating disorders by quantitative MRI. ⁶¹	Dreha-Kulaczewski SF...Helms G	22911904	2012
10	Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. ⁶¹	Wolf NI...Rating D	15851747	2005

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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	PubMed IDs
1	CLCN2	Chloride Voltage-Gated Channel 2	Protein Coding	1693.04	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	23707145 12612585

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Variations for Leukoencephalopathy with Ataxia

ClinVar genetic disease variations for Leukoencephalopathy with Ataxia:

⁶ (show all 43)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CLCN2	NM_004366.6(CLCN2):c.828dup (p.Arg277fs)	Duplication	Pathogenic	100632	rs587777112	GRCh37: 3:184075219-184075220 GRCh38: 3:184357431-184357432
2	CLCN2	NM_004366.6(CLCN2):c.1143del (p.Gly382fs)	Deletion	Pathogenic	217788	rs863225252	GRCh37: 3:184073509-184073509 GRCh38: 3:184355721-184355721
3	CLCN2	NM_004366.6(CLCN2):c.1113delinsACTGCTCAT (p.Ser375fs)	Indel	Pathogenic	217787	rs863225251	GRCh37: 3:184073539-184073539 GRCh38: 3:184355751-184355751
4	CLCN2	NM_004366.6(CLCN2):c.64-1107_639del	Deletion	Pathogenic	217783		GRCh37: 3:184075621-184078026 GRCh38: 3:184357833-184360238
5	CLCN2	NM_004366.6(CLCN2):c.1397-1G>A	SNV	Pathogenic	813301	rs1478304584	GRCh37: 3:184072447-184072447 GRCh38: 3:184354659-184354659
6	CLCN2	NM_004366.6(CLCN2):c.2134_2135del (p.Pro713fs)	Microsatellite	Pathogenic	1032900		GRCh37: 3:184070829-184070830 GRCh38: 3:184353041-184353042
7	CLCN2	NM_004366.6(CLCN2):c.985_986del (p.Ile329fs)	Deletion	Pathogenic	1032901		GRCh37: 3:184074880-184074881 GRCh38: 3:184357092-184357093
8	CLCN2	NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)	SNV	Pathogenic	100629	rs201330912	GRCh37: 3:184071901-184071901 GRCh38: 3:184354113-184354113
9	CLCN2	NM_004366.6(CLCN2):c.430_435del (p.Leu144_Ile145del)	Deletion	Pathogenic	100630	rs587777110	GRCh37: 3:184076016-184076021 GRCh38: 3:184358228-184358233
10	CLCN2	NM_004366.6(CLCN2):c.1499C>T (p.Ala500Val)	SNV	Pathogenic	100631	rs587777111	GRCh37: 3:184072344-184072344 GRCh38: 3:184354556-184354556
11	CLCN2	NM_004366.6(CLCN2):c.1304del (p.Leu435fs)	Deletion	Pathogenic	217789	rs863225253	GRCh37: 3:184073184-184073184 GRCh38: 3:184355396-184355396
12	CLCN2	NM_004366.6(CLCN2):c.1422_1423del (p.Glu475fs)	Deletion	Pathogenic	217792	rs863225255	GRCh37: 3:184072420-184072421 GRCh38: 3:184354632-184354633
13	CLCN2	NM_004366.6(CLCN2):c.925C>T (p.Arg309Ter)	SNV	Pathogenic	217785	rs863225250	GRCh37: 3:184075028-184075028 GRCh38: 3:184357240-184357240
14	CLCN2	NM_004366.6(CLCN2):c.1507G>A (p.Gly503Arg)	SNV	Pathogenic	217793	rs777105668	GRCh37: 3:184072336-184072336 GRCh38: 3:184354548-184354548
15	CLCN2	NM_004366.6(CLCN2):c.1957A>T (p.Arg653Ter)	SNV	Pathogenic	217795	rs863225256	GRCh37: 3:184071109-184071109 GRCh38: 3:184353321-184353321
16	CLCN2	NM_004366.6(CLCN2):c.1412G>A (p.Arg471His)	SNV	Pathogenic	217791	rs771507094	GRCh37: 3:184072431-184072431 GRCh38: 3:184354643-184354643
17	CLCN2	NM_004366.6(CLCN2):c.2386C>T (p.Gln796Ter)	SNV	Pathogenic	217796	rs376823689	GRCh37: 3:184069830-184069830 GRCh38: 3:184352042-184352042
18	CLCN2	NM_004366.6(CLCN2):c.1397G>A (p.Gly466Glu)	SNV	Pathogenic	217790	rs863225254	GRCh37: 3:184072446-184072446 GRCh38: 3:184354658-184354658
19	CLCN2	NM_004366.6(CLCN2):c.1015G>C (p.Val339Leu)	SNV	Pathogenic	217786	rs532632165	GRCh37: 3:184074851-184074851 GRCh38: 3:184357063-184357063
20	CLCN2	NM_004366.6(CLCN2):c.292G>C (p.Gly98Arg)	SNV	Pathogenic	217784	rs863225249	GRCh37: 3:184076530-184076530 GRCh38: 3:184358742-184358742
21	CLCN2	NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn)	SNV	Pathogenic	217794	rs141242566	GRCh37: 3:184071510-184071510 GRCh38: 3:184353722-184353722
22	CLCN2	NM_004366.6(CLCN2):c.597dup (p.Met200fs)	Duplication	Likely pathogenic	9035	rs515726131	GRCh37: 3:184075767-184075768 GRCh38: 3:184357979-184357980
23	CLCN2	NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)	SNV	Uncertain significance	9038	rs71318369	GRCh37: 3:184075476-184075476 GRCh38: 3:184357688-184357688
24	CLCN2	NM_004366.6(CLCN2):c.596G>C (p.Gly199Ala)	SNV	Uncertain significance	217772	rs863225248	GRCh37: 3:184075769-184075769 GRCh38: 3:184357981-184357981
25	CLCN2	NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp)	SNV	Uncertain significance	217778	rs2228292	GRCh37: 3:184070588-184070588 GRCh38: 3:184352800-184352800
26	CLCN2	NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)	SNV	Uncertain significance	9038	rs71318369	GRCh37: 3:184075476-184075476 GRCh38: 3:184357688-184357688
27	CLCN2	NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys)	SNV	Uncertain significance	217774	rs148545588	GRCh37: 3:184071136-184071136 GRCh38: 3:184353348-184353348
28	CLCN2	NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val)	SNV	Uncertain significance	217782	rs781034991	GRCh37: 3:184070112-184070112 GRCh38: 3:184352324-184352324
29	CLCN2	NM_004366.6(CLCN2):c.2003C>G (p.Thr668Ser)	SNV	Uncertain significance	217776	rs9820367	GRCh37: 3:184071063-184071063 GRCh38: 3:184353275-184353275
30	CLCN2	NM_004366.6(CLCN2):c.2273G>A (p.Ser758Asn)	SNV	Uncertain significance	217781	rs753380048	GRCh37: 3:184070118-184070118 GRCh38: 3:184352330-184352330
31	CLCN2	NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu)	SNV	Uncertain significance	217771	rs140463309	GRCh37: 3:184076576-184076576 GRCh38: 3:184358788-184358788
32	CLCN2	NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg)	SNV	Uncertain significance	217768	rs115661422	GRCh37: 3:184076840-184076840 GRCh38: 3:184359052-184359052
33	CLCN2	NM_004366.6(CLCN2):c.130G>A (p.Gly44Arg)	SNV	Uncertain significance	217767	rs863225247	GRCh37: 3:184076853-184076853 GRCh38: 3:184359065-184359065
34	CLCN2	NM_004366.6(CLCN2):c.218G>A (p.Arg73His)	SNV	Uncertain significance	217770	rs144412275	GRCh37: 3:184076765-184076765 GRCh38: 3:184358977-184358977
35	CLCN2	NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)	SNV	Uncertain significance	217775	rs115961753	GRCh37: 3:184071129-184071129 GRCh38: 3:184353341-184353341
36	CLCN2	NM_004366.6(CLCN2):c.2144G>A (p.Gly715Glu)	SNV	Uncertain significance	9037	rs137852681	GRCh37: 3:184070598-184070598 GRCh38: 3:184352810-184352810
37	CLCN2	NM_004366.6(CLCN2):c.1856-3C>T	SNV	Uncertain significance	217773	rs371193424	GRCh37: 3:184071213-184071213 GRCh38: 3:184353425-184353425
38	CLCN2	NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln)	SNV	Uncertain significance	9039	rs137852682	GRCh37: 3:184071575-184071575 GRCh38: 3:184353787-184353787
39	CLCN2	NM_004366.6(CLCN2):c.203G>A (p.Arg68His)	SNV	Uncertain significance	217769	rs61729156	GRCh37: 3:184076780-184076780 GRCh38: 3:184358992-184358992
40	CLCN2	NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln)	SNV	Uncertain significance	217777	rs111656822	GRCh37: 3:184070901-184070901 GRCh38: 3:184353113-184353113
41	CLCN2	NM_004366.6(CLCN2):c.2173C>T (p.Arg725Trp)	SNV	Uncertain significance	217779	rs114702742	GRCh37: 3:184070569-184070569 GRCh38: 3:184352781-184352781
42	CLCN2	NM_004366.6(CLCN2):c.2240G>A (p.Arg747His)	SNV	Uncertain significance	217780	rs144164281	GRCh37: 3:184070262-184070262 GRCh38: 3:184352474-184352474
43	CLCN2	NM_004366.6(CLCN2):c.221-14_221-4del	Deletion	Uncertain significance	9036	rs515726132	GRCh37: 3:184076605-184076615 GRCh38: 3:184358817-184358827

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

⁷²

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

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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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Sources for Leukoencephalopathy with Ataxia

¹ BioSystems

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²⁴ GeneHancer via GeneCards

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²⁷ GEO DataSets

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³³ ICD10 via Orphanet

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³⁵ IUPHAR

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⁴⁰ MalaCards

⁴¹ MedGen

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⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Leukoencephalopathy with Ataxia (LKPAT)

Aliases & Classifications for Leukoencephalopathy with Ataxia

MalaCards integrated aliases for Leukoencephalopathy with Ataxia:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Leukoencephalopathy with Ataxia

Related Diseases for Leukoencephalopathy with Ataxia

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

Symptoms & Phenotypes for Leukoencephalopathy with Ataxia

Human phenotypes related to Leukoencephalopathy with Ataxia:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Leukoencephalopathy with Ataxia:

Drugs & Therapeutics for Leukoencephalopathy with Ataxia

Genetic Tests for Leukoencephalopathy with Ataxia

Genetic tests related to Leukoencephalopathy with Ataxia:

Anatomical Context for Leukoencephalopathy with Ataxia

MalaCards organs/tissues related to Leukoencephalopathy with Ataxia:

Publications for Leukoencephalopathy with Ataxia

Articles related to Leukoencephalopathy with Ataxia:

Genes for Leukoencephalopathy with Ataxia

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

Variations for Leukoencephalopathy with Ataxia

ClinVar genetic disease variations for Leukoencephalopathy with Ataxia:

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

Expression for Leukoencephalopathy with Ataxia

Pathways for Leukoencephalopathy with Ataxia

GO Terms for Leukoencephalopathy with Ataxia

Sources for Leukoencephalopathy with Ataxia