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MCID: LGH012
MIFTS: 30

Leigh Syndrome with Leukodystrophy

Categories: Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leigh Syndrome with Leukodystrophy

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MalaCards integrated aliases for Leigh Syndrome with Leukodystrophy:

Name: Leigh Syndrome with Leukodystrophy 58
Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy 58
Leigh Disease with Leukodystrophy 58

Characteristics:


Inheritance:

Autosomal recessive 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


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Summaries for Leigh Syndrome with Leukodystrophy

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MalaCards based summary: Leigh Syndrome with Leukodystrophy, also known as infantile subacute necrotizing encephalopathy with leukodystrophy, is related to charcot-marie-tooth disease, axonal, type 2ee and parathyroid oncocytic adenoma. An important gene associated with Leigh Syndrome with Leukodystrophy is COX15 (Cytochrome C Oxidase Assembly Homolog COX15), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include eye, and related phenotypes are focal t2 hyperintense basal ganglia lesion and seizure
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Related Diseases for Leigh Syndrome with Leukodystrophy

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Diseases related to Leigh Syndrome with Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2ee 10.2 NDUFAF5 FOXRED1
2 parathyroid oncocytic adenoma 10.1 NDUFS4 NDUFS3
3 neuropathy, ataxia, and retinitis pigmentosa 10.1 NDUFS4 COX15
4 mitochondrial complex i deficiency, nuclear type 16 10.1 NDUFS7 NDUFAF5
5 mitochondrial myopathy 10.1 NDUFS4 NDUFS2 COX15
6 cardiomyopathy, infantile hypertrophic 10.1 MTFMT COX15
7 charcot-marie-tooth disease, type 4k 10.1 NDUFAF6 NDUFAF5 FOXRED1 COX15
8 mitochondrial dna depletion syndrome 9 10.1 NDUFS4 NDUFS2 FOXRED1
9 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 10.1 NDUFAF6 NDUFAF5 FOXRED1 COX15
10 3-methylglutaconic aciduria, type iii 10.0 NDUFS2 NDUFA10 ECHS1 COX15
11 leukodystrophy, hypomyelinating, 5 10.0 NDUFS7 NDUFS1
12 optic nerve disease 10.0 NDUFS4 NDUFS2 LIPT1
13 pyruvate dehydrogenase e1-alpha deficiency 10.0 LIPT1 ECHS1
14 lactic acidosis 10.0 NDUFS4 NDUFA4 NDUFA13 LIPT1 COX15
15 cardiomyopathy, infantile histiocytoid 9.9 NDUFS8 NDUFS7 NDUFS2 NDUFAF2
16 mitochondrial encephalomyopathy 9.9 NDUFS7 NDUFS4 NDUFS2 NDUFS1
17 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 NDUFS7 NDUFS4 NDUFS2 NDUFS1 COX15
18 mitochondrial metabolism disease 9.3 NDUFS8 NDUFS7 NDUFS4 NDUFS2 NDUFS1 NDUFAF6
19 leber hereditary optic neuropathy, modifier of 9.2 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
20 myopathy 8.7 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
21 leukodystrophy 8.7 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
22 mitochondrial complex i deficiency, nuclear type 1 8.7 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
23 leigh syndrome 8.4 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1

Graphical network of the top 20 diseases related to Leigh Syndrome with Leukodystrophy:



Diseases related to Leigh Syndrome with Leukodystrophy
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Symptoms & Phenotypes for Leigh Syndrome with Leukodystrophy

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Human phenotypes related to Leigh Syndrome with Leukodystrophy:

58 30 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 focal t2 hyperintense basal ganglia lesion 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0007183
2 seizure 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001250
3 hyperreflexia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001347
4 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001508
5 ptosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000508
6 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000639
7 emotional lability 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000712
8 dysarthria 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001260
9 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001252
10 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001263
11 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000648
12 intellectual disability, severe 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010864
13 strabismus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000486
14 hypertrophic cardiomyopathy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001639
15 ophthalmoplegia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000602
16 increased serum lactate 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002151
17 apnea 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002104
18 ventricular septal defect 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001629
19 dystonia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001332
20 peripheral neuropathy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0009830
21 leukodystrophy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002415
22 increased csf lactate 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002490
23 pigmentary retinopathy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000580
24 progressive cerebellar ataxia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002073
25 hypertrichosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000998
26 progressive spastic paraplegia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007020
27 decreased activity of the pyruvate dehydrogenase complex 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002928
28 decreased activity of mitochondrial respiratory chain 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008972
29 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000365
30 anemia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001903
31 spasticity 58 Frequent (79-30%)
32 abnormality of movement 58 Frequent (79-30%)
33 acidosis 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

25 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.46 NDUFS7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.46 NDUFA10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.46 NDUFA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10.46 NDUFS7
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.46 NDUFA2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.46 NDUFA10 NDUFS1 NDUFS7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.46 NDUFA9
8 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.46 NDUFA2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.46 NDUFS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.46 NDUFS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.46 NDUFA2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.46 NDUFS1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.46 NDUFA10
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.46 NDUFA10
15 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.46 NDUFA10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-193 10.46 NDUFA10
17 Increased shRNA abundance (Z-score > 2) GR00366-A-34 10.46 NDUFA9
18 Increased shRNA abundance (Z-score > 2) GR00366-A-38 10.46 NDUFA2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.46 NDUFS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.46 NDUFA10
21 Increased shRNA abundance (Z-score > 2) GR00366-A-66 10.46 NDUFA10
22 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.46 NDUFA2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.46 NDUFA10
24 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.46 NDUFA9
25 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.46 NDUFA2
26 no effect GR00402-S-1 10.17 COX15 ECHS1 FOXRED1 LIPT1 MTFMT NDUFA10
27 no effect GR00402-S-2 10.17 COX15 ECHS1 LIPT1 NDUFA10 NDUFA12 NDUFA2
28 Decreased shRNA abundance GR00297-A 9.76 NDUFA10 NDUFA13 NDUFA4 NDUFS1 NDUFS2 NDUFS3

MGI Mouse Phenotypes related to Leigh Syndrome with Leukodystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.47 COX15 ECHS1 FOXRED1 LIPT1 MTFMT NDUFA10
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Drugs & Therapeutics for Leigh Syndrome with Leukodystrophy

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Search Clinical Trials, NIH Clinical Center for Leigh Syndrome with Leukodystrophy

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Genetic Tests for Leigh Syndrome with Leukodystrophy

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Anatomical Context for Leigh Syndrome with Leukodystrophy

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Organs/tissues related to Leigh Syndrome with Leukodystrophy:

MalaCards : Eye
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Publications for Leigh Syndrome with Leukodystrophy

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Variations for Leigh Syndrome with Leukodystrophy

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Expression for Leigh Syndrome with Leukodystrophy

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Search GEO for disease gene expression data for Leigh Syndrome with Leukodystrophy.
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Pathways for Leigh Syndrome with Leukodystrophy

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Pathways related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.57 COX15 ECHS1 LIPT1 NDUFA10 NDUFA12 NDUFA13
2
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 66
Show member pathways
 12.62 COX15 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4
3
Complex I biogenesis 66
Show member pathways
 11.55 FOXRED1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA9
4
Metformin Pathway, Pharmacodynamics 60
11.11 NDUFS4 NDUFS2 NDUFS1 NDUFA2
5
Doxorubicin Pathway, Pharmacokinetics 60
Show member pathways
 11.1 NDUFS7 NDUFS3 NDUFS2
6
Mitochondrial complex IV assembly 74
10.86 NDUFA4 COX15
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GO Terms for Leigh Syndrome with Leukodystrophy

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Cellular components related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 10.43 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
2 mitochondrial inner membrane GO:0005743 10.42 NDUFA9 NDUFA4 NDUFA2 NDUFA13 NDUFA12 NDUFA10
3 mitochondrial matrix GO:0005759 10.28 ECHS1 LIPT1 NDUFA10 NDUFA9 NDUFS1 NDUFS2
4 mitochondrial membrane GO:0031966 10.07 NDUFS3 NDUFA9 NDUFA4 NDUFA2 NDUFA13 COX15
5 respirasome GO:0070469 9.77 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
6 mitochondrial respiratory chain complex I GO:0005747 9.74 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
7 mitochondrial respirasome GO:0005746 9.71 NDUFA13 COX15

Biological processes related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex I assembly GO:0032981 10.33 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
2 aerobic respiration GO:0009060 10.3 NDUFS4 NDUFS3 NDUFS2 NDUFS1 NDUFA9 NDUFA2
3 cellular respiration GO:0045333 9.97 NDUFS4 NDUFS1 NDUFA4 COX15
4 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.96 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
5 reactive oxygen species metabolic process GO:0072593 9.92 NDUFA13 NDUFS1 NDUFS3 NDUFS4
6 mitochondrial ATP synthesis coupled electron transport GO:0042775 9.73 NDUFS2 NDUFA12
7 electron transport chain GO:0022900 9.71 NDUFS8 NDUFS7 NDUFS4 NDUFS2
8 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.66 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1

Molecular functions related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 10.02 NDUFS8 NDUFS7 NDUFS3 NDUFS2 NDUFS1 NDUFAF5
2 4 iron, 4 sulfur cluster binding GO:0051539 9.92 NDUFS8 NDUFS7 NDUFS2 NDUFS1
3 electron transfer activity GO:0009055 9.88 NDUFS3 NDUFS2 NDUFS1
4 quinone binding GO:0048038 9.73 NDUFS7 NDUFS2
5 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.66 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
6 NADH dehydrogenase activity GO:0003954 9.65 NDUFS8 NDUFS7 NDUFS3 NDUFS2 NDUFA9
7 iron-sulfur cluster binding GO:0051536 9.56 NDUFS8 NDUFS7 NDUFS2 NDUFS1
8 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.46 NDUFS1 NDUFS2 NDUFS3 NDUFS8
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Sources for Leigh Syndrome with Leukodystrophy

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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