MCID: LKN021
MIFTS: 8

Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

Categories: Genetic diseases

Aliases & Classifications for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

MalaCards integrated aliases for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency:

Name: Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency 24 29
Leukoencephalopathy with Ataxia 24 69
Lkpat 24

Classifications:



Summaries for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

MalaCards based summary : Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency, also known as leukoencephalopathy with ataxia, is related to leukoencephalopathy with ataxia, and has symptoms including headache and gait ataxia. An important gene associated with Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency is CLCN2 (Chloride Voltage-Gated Channel 2).

Related Diseases for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

Diseases related to Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 leukoencephalopathy with ataxia 12.2

Symptoms & Phenotypes for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

UMLS symptoms related to Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency:


headache, gait ataxia

Drugs & Therapeutics for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

Search Clinical Trials , NIH Clinical Center for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

Genetic Tests for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

Genetic tests related to Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency:

id Genetic test Affiliating Genes
1 Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency 29 24 CLCN2

Anatomical Context for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

Publications for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

Variations for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

ClinVar genetic disease variations for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 CLCN2 NM_004366.5(CLCN2): c.1709G> A (p.Trp570Ter) single nucleotide variant Pathogenic rs201330912 GRCh37 Chromosome 3, 184071901: 184071901
2 CLCN2 NM_004366.5(CLCN2): c.430_435delCTCATC (p.Leu144_Ile145del) deletion Pathogenic rs587777110 GRCh37 Chromosome 3, 184076016: 184076021
3 CLCN2 NM_004366.5(CLCN2): c.1499C> T (p.Ala500Val) single nucleotide variant Pathogenic rs587777111 GRCh37 Chromosome 3, 184072344: 184072344
4 CLCN2 NM_004366.5(CLCN2): c.828dupG (p.Arg277Alafs) duplication Pathogenic rs587777112 GRCh37 Chromosome 3, 184075220: 184075220
5 CLCN2 NM_004366.5(CLCN2): c.2386C> T (p.Gln796Ter) single nucleotide variant Pathogenic rs376823689 GRCh37 Chromosome 3, 184069830: 184069830
6 CLCN2 NM_004366.5(CLCN2): c.1412G> A (p.Arg471His) single nucleotide variant Pathogenic rs771507094 GRCh37 Chromosome 3, 184072431: 184072431
7 CLCN2 NM_004366.5(CLCN2): c.1957A> T (p.Arg653Ter) single nucleotide variant Pathogenic rs863225256 GRCh38 Chromosome 3, 184353321: 184353321
8 CLCN2 NM_004366.5(CLCN2): c.1795G> A (p.Asp599Asn) single nucleotide variant Pathogenic rs141242566 GRCh38 Chromosome 3, 184353722: 184353722
9 CLCN2 NM_004366.5(CLCN2): c.1507G> A (p.Gly503Arg) single nucleotide variant Pathogenic rs777105668 GRCh38 Chromosome 3, 184354548: 184354548
10 CLCN2 NM_004366.5(CLCN2): c.1422_1423delTG (p.Glu475Lysfs) deletion Pathogenic rs863225255 GRCh37 Chromosome 3, 184072420: 184072421
11 CLCN2 NM_004366.5(CLCN2): c.1397G> A (p.Gly466Glu) single nucleotide variant Pathogenic rs863225254 GRCh38 Chromosome 3, 184354658: 184354658
12 CLCN2 NM_004366.5(CLCN2): c.1304delT (p.Leu435Argfs) deletion Pathogenic rs863225253 GRCh37 Chromosome 3, 184073184: 184073184
13 CLCN2 NM_004366.5(CLCN2): c.1143delT (p.Gly382Alafs) deletion Pathogenic rs863225252 GRCh38 Chromosome 3, 184355721: 184355721
14 CLCN2 NM_004366.5(CLCN2): c.1113delCinsACTGCTCAT (p.Ser375Cysfs) indel Pathogenic rs863225251 GRCh37 Chromosome 3, 184073539: 184073539
15 CLCN2 NM_004366.5(CLCN2): c.1015G> C (p.Val339Leu) single nucleotide variant Pathogenic rs532632165 GRCh37 Chromosome 3, 184074851: 184074851
16 CLCN2 NM_004366.5(CLCN2): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic rs863225250 GRCh38 Chromosome 3, 184357240: 184357240
17 CLCN2 NM_004366.5(CLCN2): c.64-1107_639del (p.Met22LeufsTer5) deletion Pathogenic GRCh38 Chromosome 3, 184357833: 184360238
18 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 Due to Clc-2 Deficiency

Search GEO for disease gene expression data for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency.

Pathways for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

GO Terms for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

Sources for Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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42 MeSH
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55 OMIM via Orphanet
59 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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