MCID: PRG076
MIFTS: 7

Progressive Cavitating Leukoencephalopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Progressive Cavitating Leukoencephalopathy

MalaCards integrated aliases for Progressive Cavitating Leukoencephalopathy:

Name: Progressive Cavitating Leukoencephalopathy 60

Characteristics:

Orphanet epidemiological data:

60
progressive cavitating leukoencephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 E75.2
Orphanet 60 ORPHA139447

Summaries for Progressive Cavitating Leukoencephalopathy

MalaCards based summary : Progressive Cavitating Leukoencephalopathy is related to mitochondrial complex v deficiency, nuclear type 1. An important gene associated with Progressive Cavitating Leukoencephalopathy is NDUFS1 (NADH:Ubiquinone Oxidoreductase Core Subunit S1).

Related Diseases for Progressive Cavitating Leukoencephalopathy

Diseases related to Progressive Cavitating Leukoencephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial complex v deficiency, nuclear type 1 10.0

Symptoms & Phenotypes for Progressive Cavitating Leukoencephalopathy

Drugs & Therapeutics for Progressive Cavitating Leukoencephalopathy

Search Clinical Trials , NIH Clinical Center for Progressive Cavitating Leukoencephalopathy

Genetic Tests for Progressive Cavitating Leukoencephalopathy

Anatomical Context for Progressive Cavitating Leukoencephalopathy

Publications for Progressive Cavitating Leukoencephalopathy

Articles related to Progressive Cavitating Leukoencephalopathy:

# Title Authors Year
1
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1. ( 21203893 )
2011
2
Progressive cavitating leukoencephalopathy: a novel childhood disease. ( 16315274 )
2005

Variations for Progressive Cavitating Leukoencephalopathy

Expression for Progressive Cavitating Leukoencephalopathy

Search GEO for disease gene expression data for Progressive Cavitating Leukoencephalopathy.

Pathways for Progressive Cavitating Leukoencephalopathy

GO Terms for Progressive Cavitating Leukoencephalopathy

Sources for Progressive Cavitating Leukoencephalopathy

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7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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38 KEGG
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45 MeSH
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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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