MCID: PRG076
MIFTS: 6

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 59

Characteristics:

Orphanet epidemiological data:

59
progressive cavitating leukoencephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA139447
ICD10 via Orphanet 34 E75.2

Summaries for Progressive Cavitating Leukoencephalopathy

MalaCards based summary : Progressive Cavitating Leukoencephalopathy An important gene associated with Progressive Cavitating Leukoencephalopathy is NDUFS1 (NADH:Ubiquinone Oxidoreductase Core Subunit S1).

Related Diseases for Progressive Cavitating Leukoencephalopathy

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

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
Content
Loading form....