MCID: PRG076
MIFTS: 10

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 58

Characteristics:

Orphanet epidemiological data:

58
progressive cavitating leukoencephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 E75.2
Orphanet 58 ORPHA139447

Summaries for Progressive Cavitating Leukoencephalopathy

MalaCards based summary : Progressive Cavitating Leukoencephalopathy is related to strabismus and 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 strabismus 10.1
2 mitochondrial complex v deficiency, nuclear type 1 10.1
3 dystonia 10.1
4 mechanical strabismus 10.1
5 pathologic nystagmus 10.1
6 spasticity 10.1

Graphical network of the top 20 diseases related to Progressive Cavitating Leukoencephalopathy:



Diseases related to 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 PMID Year
1
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy. 61
33811136 2021
2
Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L). 61
32382377 2020
3
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. 61
31665838 2019
4
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. 61
28913435 2017
5
[Progressive cavitating leukoencephalopathy: four cases and literatures review]. 61
28441825 2017
6
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1. 61
21203893 2011
7
Two cases with progressive cystic leukoencephalopathy. 61
19639529 2009
8
Progressive cavitating leukoencephalopathy: a novel childhood disease. 61
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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....