LKPAT
MCID: CLC058
MIFTS: 12

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 73
Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema 25
Leukoencephalopathy with White Matter Edema 25
Lkpat 25
Cc2l 25

Classifications:



External Ids:

UMLS 73 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).

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 12.6
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:

41
Eye, Brain

Publications for Clcn2-Related Leukoencephalopathy

Articles related to Clcn2-Related Leukoencephalopathy:

# Title Authors Year
1
CLCN2-Related Leukoencephalopathy ( 26539602 )
1993

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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