LKPAT
MCID: CLC058
MIFTS: 17

Clcn2-Related Leukoencephalopathy (LKPAT)

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Clcn2-Related Leukoencephalopathy

MalaCards integrated aliases for Clcn2-Related Leukoencephalopathy:

Name: Clcn2-Related Leukoencephalopathy 24 25
Leukoencephalopathy with Ataxia 25 72
Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema 25
Leukoencephalopathy with White Matter Edema 25
Lkpat 25
Cc2l 25

Classifications:



External Ids:

UMLS 72 C3810242

Summaries for Clcn2-Related Leukoencephalopathy

Genetics Home Reference : 25 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). CLCN2 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. CLCN2 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. CLCN2

MalaCards based summary : Clcn2-Related Leukoencephalopathy, also known as leukoencephalopathy with ataxia, is related to tremor and episodic kinesigenic dyskinesia 1, and has symptoms including gait ataxia and headache. An important gene associated with Clcn2-Related Leukoencephalopathy is CLCN2 (Chloride Voltage-Gated Channel 2). Affiliated tissues include brain and eye.

GeneReviews: NBK326661

Related Diseases for Clcn2-Related Leukoencephalopathy

Diseases related to Clcn2-Related Leukoencephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 tremor 10.4
2 episodic kinesigenic dyskinesia 1 10.2
3 3-methylglutaconic aciduria, type iii 10.2
4 ataxia and polyneuropathy, adult-onset 10.2
5 aceruloplasminemia 10.2
6 leukoencephalopathy with ataxia 10.2
7 leukodystrophy 10.2
8 male infertility 10.2
9 learning disability 10.2
10 pathologic nystagmus 10.2
11 spasticity 10.2
12 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 9.9
13 polr3-related leukodystrophy 9.9

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:


gait ataxia, headache

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:

41
Brain, Eye

Publications for Clcn2-Related Leukoencephalopathy

Articles related to Clcn2-Related Leukoencephalopathy:

(show all 26)
# Title Authors PMID Year
1
Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation. 4
25745790 2015
2
Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation. 4
25128180 2014
3
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. 4
23707145 2013
4
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. 4
21703448 2011
5
Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2. 4
20071672 2010
6
No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. 4
20037607 2010
7
CLCN2 variants in idiopathic generalized epilepsy. 4
19710712 2009
8
Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. 4
19710717 2009
9
Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy. 4
19200853 2009
10
Chloride channelopathies. 4
19708126 2009
11
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. 4
19191339 2009
12
Invited article: an MRI-based approach to the diagnosis of white matter disorders. 4
19237705 2009
13
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. 4
17580110 2007
14
Leukoencephalopathy upon disruption of the chloride channel ClC-2. 4
17567819 2007
15
Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics. 4
17762171 2007
16
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes. 4
16932951 2006
17
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. 4
15505175 2004
18
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. 4
12612585 2003
19
Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption. 4
11250895 2001
20
CLCN2-related leukoencephalopathy: a case report and review of the literature. 38
31291907 2019
21
A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan. 38
30077506 2019
22
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT). 38
28473625 2017
23
Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations. 38
28746943 2017
24
CLCN2-Related Leukoencephalopathy 38
26539602 2015
25
Assessment of myelination in hypomyelinating disorders by quantitative MRI. 38
22911904 2012
26
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. 38
15851747 2005

Variations for Clcn2-Related Leukoencephalopathy

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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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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