MCID: NCL007
MIFTS: 17

Nuclear Gene-Encoded Leigh Syndrome

Categories: Rare diseases

Aliases & Classifications for Nuclear Gene-Encoded Leigh Syndrome

MalaCards integrated aliases for Nuclear Gene-Encoded Leigh Syndrome:

Name: Nuclear Gene-Encoded Leigh Syndrome 20

Classifications:



Summaries for Nuclear Gene-Encoded Leigh Syndrome

GARD : 20 Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, cerebellar ataxia, and peripheral neuropathy. Other signs and symptoms may include an increase in the heart muscle size (hypertrophic cardiomyopathy); excessive body hair (hypertrichosis); anemia; kidney or liver problems; and lung or heart failure. Nuclear gene-encoded Leigh syndrome (and Leigh-like syndrome, a term used for cases with similar features but that do not fulfill the diagnostic criteria for Leigh syndrome) may be caused by mutations in any of several genes and can be inherited in an autosomal recessive or X-linked manner. While treatment for some cases of Leigh-like syndrome may be available, management is generally supportive and focuses on the symptoms present.

MalaCards based summary : Nuclear Gene-Encoded Leigh Syndrome is related to nuclear gene-encoded leigh syndrome spectrum and leigh syndrome. An important gene associated with Nuclear Gene-Encoded Leigh Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and AMPK Enzyme Complex Pathway. Affiliated tissues include heart, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Nuclear Gene-Encoded Leigh Syndrome

Diseases in the Nuclear Gene-Encoded Leigh Syndrome family:

Nuclear Gene-Encoded Leigh Syndrome Spectrum

Diseases related to Nuclear Gene-Encoded Leigh Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 nuclear gene-encoded leigh syndrome spectrum 30.3 LRPPRC FOXRED1 DLD COX15 COX10 BCS1L
2 leigh syndrome 30.1 LRPPRC FOXRED1 DLD COX15 COX10 BCS1L
3 dysphagia 10.0 COX15 COX10
4 neuropathy, ataxia, and retinitis pigmentosa 10.0 COX15 COX10
5 cardiomyopathy, infantile hypertrophic 9.9 COX15 COX10
6 mitochondrial complex iv deficiency, nuclear type 5 9.9 LRPPRC BCS1L
7 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 9.9 COX15 COX10
8 myoclonic epilepsy associated with ragged-red fibers 9.9 COX10 BCS1L
9 mitochondrial encephalomyopathy 9.8 COX10 BCS1L
10 kearns-sayre syndrome 9.8 COX15 COX10 BCS1L
11 mitochondrial dna depletion syndrome 9 9.8 FOXRED1 COX10
12 leber hereditary optic neuropathy, modifier of 9.8 COX15 COX10 BCS1L
13 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 COX15 COX10 BCS1L
14 mitochondrial myopathy 9.7 COX15 COX10 BCS1L
15 mitochondrial disorders 9.7 COX10 BCS1L
16 mitochondrial complex iv deficiency, nuclear type 1 9.7 LRPPRC COX15 COX10
17 leigh syndrome with leukodystrophy 9.7 FOXRED1 COX15
18 lactic acidosis 9.4 LRPPRC DLD COX15 BCS1L
19 mitochondrial metabolism disease 9.0 LRPPRC FOXRED1 COX15 COX10 BCS1L

Graphical network of the top 20 diseases related to Nuclear Gene-Encoded Leigh Syndrome:



Diseases related to Nuclear Gene-Encoded Leigh Syndrome

Symptoms & Phenotypes for Nuclear Gene-Encoded Leigh Syndrome

GenomeRNAi Phenotypes related to Nuclear Gene-Encoded Leigh Syndrome according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.6 LRPPRC
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.6 BCS1L
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.6 BCS1L COX10 LRPPRC
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.6 COX10
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.6 LRPPRC
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.6 BCS1L
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.6 LRPPRC
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.6 LRPPRC
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.6 BCS1L COX10
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.6 BCS1L
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.6 LRPPRC
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.6 BCS1L LRPPRC
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.6 BCS1L
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.6 COX10
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.6 LRPPRC

MGI Mouse Phenotypes related to Nuclear Gene-Encoded Leigh Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 BCS1L COX10 COX15 DLD FOXRED1 LRPPRC

Drugs & Therapeutics for Nuclear Gene-Encoded Leigh Syndrome

Search Clinical Trials , NIH Clinical Center for Nuclear Gene-Encoded Leigh Syndrome

Genetic Tests for Nuclear Gene-Encoded Leigh Syndrome

Anatomical Context for Nuclear Gene-Encoded Leigh Syndrome

MalaCards organs/tissues related to Nuclear Gene-Encoded Leigh Syndrome:

40
Heart

Publications for Nuclear Gene-Encoded Leigh Syndrome

Articles related to Nuclear Gene-Encoded Leigh Syndrome:

# Title Authors PMID Year
1
NDUFS6 related Leigh syndrome: a case report and review of the literature. 61
30948790 2019
2
Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview 61
26425749 2015

Variations for Nuclear Gene-Encoded Leigh Syndrome

Expression for Nuclear Gene-Encoded Leigh Syndrome

Search GEO for disease gene expression data for Nuclear Gene-Encoded Leigh Syndrome.

Pathways for Nuclear Gene-Encoded Leigh Syndrome

GO Terms for Nuclear Gene-Encoded Leigh Syndrome

Cellular components related to Nuclear Gene-Encoded Leigh Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.46 FOXRED1 COX15 COX10 BCS1L
2 mitochondrial membrane GO:0031966 9.26 COX15 COX10
3 mitochondrion GO:0005739 9.1 LRPPRC FOXRED1 DLD COX15 COX10 BCS1L
4 cytochrome complex GO:0070069 8.96 COX15 COX10

Biological processes related to Nuclear Gene-Encoded Leigh Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.63 FOXRED1 DLD COX15
2 proton transmembrane transport GO:1902600 9.43 COX15 COX10
3 mitochondrion organization GO:0007005 9.4 COX10 BCS1L
4 mitochondrial respiratory chain complex I assembly GO:0032981 9.37 FOXRED1 BCS1L
5 heme biosynthetic process GO:0006783 9.32 COX15 COX10
6 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.26 COX15 COX10
7 cellular respiration GO:0045333 9.16 COX15 COX10
8 respiratory chain complex IV assembly GO:0008535 8.96 COX15 COX10
9 heme a biosynthetic process GO:0006784 8.62 COX15 COX10

Molecular functions related to Nuclear Gene-Encoded Leigh Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 8.62 COX15 COX10

Sources for Nuclear Gene-Encoded Leigh Syndrome

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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