LKPAT
MCID: CLC058
MIFTS: 21

Clcn2-Related Leukoencephalopathy (LKPAT)

Categories: Ear diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Clcn2-Related Leukoencephalopathy

MalaCards integrated aliases for Clcn2-Related Leukoencephalopathy:

Name: Clcn2-Related Leukoencephalopathy 25 43
Leukoencephalopathy with White Matter Edema 43 6
Leukoencephalopathy with Ataxia 43 71
Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema 43
Lkpat 43
Cc2l 43

Classifications:



External Ids:

UMLS 71 C3810242

Summaries for Clcn2-Related Leukoencephalopathy

MedlinePlus Genetics : 43 CLCN2-related leukoencephalopathy is a disorder that affects the brain. People with this condition have neurological problems that become apparent anytime from childhood to adulthood; the problems generally do not worsen much over time. Most affected individuals have difficulty with coordination and balance (ataxia) but can walk without support, and many have frequent headaches. Individuals diagnosed in childhood usually also have learning disabilities, while those whose symptoms begin in adulthood typically also have vision problems. These vision problems are due to breakdown of the light-sensing tissue at the back of the eyes (retinopathy) or degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Some affected individuals have mild muscle stiffness (spasticity). Affected males are unable to father children (infertile).Rarely, affected individuals have dizziness (vertigo), ringing in the ears (tinnitus), hearing loss, episodes of abnormal movements (paroxysmal kinesigenic dyskinesia), or psychiatric disorders. However, it is unclear whether these are features of CLCN2-related leukoencephalopathy or coincidental findings.The neurological problems in CLCN2-related leukoencephalopathy are caused by abnormalities in the brain. People with this condition have leukoencephalopathy, an abnormality of the brain's white matter that can be detected with medical imaging. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In affected individuals, the myelin becomes fluid-filled (edematous), impairing nerve impulse transmission.

MalaCards based summary : Clcn2-Related Leukoencephalopathy, also known as leukoencephalopathy with white matter edema, is related to leukoencephalopathy with ataxia and tremor, and has symptoms including headache and gait ataxia. An important gene associated with Clcn2-Related Leukoencephalopathy is CLCN2 (Chloride Voltage-Gated Channel 2). Affiliated tissues include brain.

GeneReviews: NBK326661

Related Diseases for Clcn2-Related Leukoencephalopathy

Graphical network of the top 20 diseases related to Clcn2-Related Leukoencephalopathy:



Diseases related to Clcn2-Related Leukoencephalopathy

Symptoms & Phenotypes for Clcn2-Related Leukoencephalopathy

UMLS symptoms related to Clcn2-Related Leukoencephalopathy:


headache, gait ataxia

Drugs & Therapeutics for Clcn2-Related Leukoencephalopathy

Search Clinical Trials , NIH Clinical Center for Clcn2-Related Leukoencephalopathy

Genetic Tests for Clcn2-Related Leukoencephalopathy

Anatomical Context for Clcn2-Related Leukoencephalopathy

MalaCards organs/tissues related to Clcn2-Related Leukoencephalopathy:

40
Brain

Publications for Clcn2-Related Leukoencephalopathy

Articles related to Clcn2-Related Leukoencephalopathy:

(show all 25)
# Title Authors PMID Year
1
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. 6 25
23707145 2013
2
Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation. 25
25745790 2015
3
Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation. 25
25128180 2014
4
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. 25
21703448 2011
5
Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2. 25
20071672 2010
6
No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. 25
20037607 2010
7
CLCN2 variants in idiopathic generalized epilepsy. 25
19710712 2009
8
Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. 25
19710717 2009
9
Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy. 25
19200853 2009
10
Chloride channelopathies. 25
19708126 2009
11
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. 25
19191339 2009
12
Invited article: an MRI-based approach to the diagnosis of white matter disorders. 25
19237705 2009
13
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. 25
17580110 2007
14
Leukoencephalopathy upon disruption of the chloride channel ClC-2. 25
17567819 2007
15
Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics. 25
17762171 2007
16
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes. 25
16932951 2006
17
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. 25
15505175 2004
18
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. 25
12612585 2003
19
Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption. 25
11250895 2001
20
A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis. 61
32173090 2020
21
Generation of an iPSC line (SKLOi001-A) from a patient with CLCN2-related leukoencephalopathy. 61
32278302 2020
22
CLCN2-related leukoencephalopathy: a case report and review of the literature. 61
31291907 2019
23
A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan. 61
30077506 2019
24
Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations. 61
28746943 2017
25
CLCN2-Related Leukoencephalopathy 61
26539602 2015

Variations for Clcn2-Related Leukoencephalopathy

ClinVar genetic disease variations for Clcn2-Related Leukoencephalopathy:

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

Expression for Clcn2-Related Leukoencephalopathy

Search GEO for disease gene expression data for Clcn2-Related Leukoencephalopathy.

Pathways for Clcn2-Related Leukoencephalopathy

GO Terms for Clcn2-Related Leukoencephalopathy

Sources for Clcn2-Related Leukoencephalopathy

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