MCID: CLC058
MIFTS: 12

Clcn2-Related Leukoencephalopathy

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Clcn2-Related Leukoencephalopathy

MalaCards integrated aliases for Clcn2-Related Leukoencephalopathy:

Name: Clcn2-Related Leukoencephalopathy 25 26
Leukoencephalopathy with Ataxia 26 74
Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema 26
Leukoencephalopathy with White Matter Edema 26
Lkpat 26
Cc2l 26

Classifications:



External Ids:

UMLS 74 C3810242

Summaries for Clcn2-Related Leukoencephalopathy

Genetics Home Reference : 26 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).

MalaCards based summary : Clcn2-Related Leukoencephalopathy, also known as leukoencephalopathy with ataxia, is related to leukoencephalopathy with ataxia and ataxia and polyneuropathy, adult-onset, and has symptoms including gait ataxia and headache. Affiliated tissues include eye and brain.

GeneReviews: NBK326661

Related Diseases for Clcn2-Related Leukoencephalopathy

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

# Related Disease Score Top Affiliating Genes
1 leukoencephalopathy with ataxia 12.7
2 ataxia and polyneuropathy, adult-onset 9.9

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:

42
Eye, Brain

Publications for Clcn2-Related Leukoencephalopathy

Articles related to Clcn2-Related Leukoencephalopathy:

# Title Authors Year
1
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT). ( 28473625 )
2017

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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