MCID: LGH017
MIFTS: 29

Leigh Syndrome with Nephrotic Syndrome

Categories: Eye diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leigh Syndrome with Nephrotic Syndrome

MalaCards integrated aliases for Leigh Syndrome with Nephrotic Syndrome:

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

Characteristics:

Orphanet epidemiological data:

58
leigh syndrome with nephrotic syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism


Summaries for Leigh Syndrome with Nephrotic Syndrome

MalaCards based summary : Leigh Syndrome with Nephrotic Syndrome, also known as infantile subacute necrotizing encephalopathy with nephrotic syndrome, is related to coenzyme q10 deficiency, primary, 1 and mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance. An important gene associated with Leigh Syndrome with Nephrotic Syndrome is COQ2 (Coenzyme Q2, Polyprenyltransferase), and among its related pathways/superpathways is Ubiquinol biosynthesis. Affiliated tissues include eye, and related phenotypes are nephrotic syndrome and hypoalbuminemia

Related Diseases for Leigh Syndrome with Nephrotic Syndrome

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



Diseases related to Leigh Syndrome with Nephrotic Syndrome

Symptoms & Phenotypes for Leigh Syndrome with Nephrotic Syndrome

Human phenotypes related to Leigh Syndrome with Nephrotic Syndrome:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrotic syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0000100
2 hypoalbuminemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003073
3 heavy proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0012597
4 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
5 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
6 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
7 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
8 episodic vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002572
9 generalized edema 58 31 frequent (33%) Frequent (79-30%) HP:0007430
10 focal t2 hyperintense basal ganglia lesion 58 31 frequent (33%) Frequent (79-30%) HP:0007183
11 severe lactic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0004900
12 eeg with focal spikes 58 31 frequent (33%) Frequent (79-30%) HP:0011193
13 bilateral tonic-clonic seizure with focal onset 31 frequent (33%) HP:0007334
14 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
15 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
16 renal cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0000107
17 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
18 tubulointerstitial nephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001970
19 renal tubular acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001947
20 cerebral visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100704
21 undetectable visual evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0007965
22 feeding difficulties 58 Frequent (79-30%)
23 generalized tonic-clonic seizures with focal onset 58 Frequent (79-30%)

Drugs & Therapeutics for Leigh Syndrome with Nephrotic Syndrome

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

Genetic Tests for Leigh Syndrome with Nephrotic Syndrome

Anatomical Context for Leigh Syndrome with Nephrotic Syndrome

MalaCards organs/tissues related to Leigh Syndrome with Nephrotic Syndrome:

40
Eye

Publications for Leigh Syndrome with Nephrotic Syndrome

Articles related to Leigh Syndrome with Nephrotic Syndrome:

# Title Authors PMID Year
1
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. 6
27493029 2016
2
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
3
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. 6
20495179 2010
4
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. 6
17855635 2007
5
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. 6
17374725 2007
6
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 6
17332895 2007
7
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 6
17186472 2006
8
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. 6
16400613 2006
9
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. 6
16116126 2005

Variations for Leigh Syndrome with Nephrotic Syndrome

ClinVar genetic disease variations for Leigh Syndrome with Nephrotic Syndrome:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COQ2 NM_015697.8(COQ2):c.1197del (p.Asn401fs) Deletion Pathogenic 375340 rs750710187 GRCh37: 4:84185421-84185421
GRCh38: 4:83264268-83264268
2 PDSS2 NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter) SNV Pathogenic 1200 rs118203955 GRCh37: 6:107531687-107531687
GRCh38: 6:107210483-107210483
3 PDSS2 NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) SNV Pathogenic 1201 rs118203956 GRCh37: 6:107475878-107475878
GRCh38: 6:107154674-107154674
4 COQ2 NM_015697.8(COQ2):c.890A>G (p.Tyr297Cys) SNV Pathogenic 1436 rs121918230 GRCh37: 4:84191035-84191035
GRCh38: 4:83269882-83269882
5 COQ2 NM_015697.8(COQ2):c.590G>A (p.Arg197His) SNV Pathogenic 1438 rs121918231 GRCh37: 4:84194751-84194751
GRCh38: 4:83273598-83273598
6 COQ2 NM_015697.8(COQ2):c.437G>A (p.Ser146Asn) SNV Pathogenic 1440 rs121918233 GRCh37: 4:84200234-84200234
GRCh38: 4:83279081-83279081
7 PDSS2 NM_020381.4(PDSS2):c.129dup (p.Lys44fs) Duplication Pathogenic 1028164 GRCh37: 6:107780360-107780361
GRCh38: 6:107459156-107459157
8 COQ2 NM_001358921.2(COQ2):c.967del (p.Ile323fs) Deletion Pathogenic 1031930 GRCh37: 4:84185501-84185501
GRCh38: 4:83264348-83264348
9 COQ2 NM_015697.8(COQ2):c.288dup (p.Ala97fs) Duplication Pathogenic 631951 rs759310292 GRCh37: 4:84205779-84205780
GRCh38: 4:83284626-83284627
10 COQ8A NM_020247.5(COQ8A):c.280_284del (p.Ser95fs) Deletion Likely pathogenic 930030 GRCh37: 1:227152799-227152803
GRCh38: 1:226965098-226965102
11 COQ2 NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn) SNV Likely pathogenic 807401 rs1577993720 GRCh37: 4:84205698-84205698
GRCh38: 4:83284545-83284545
12 COQ8A NM_020247.5(COQ8A):c.*72dup Duplication Likely pathogenic 590809 rs1558212305 GRCh37: 1:227174508-227174509
GRCh38: 1:226986807-226986808
13 COQ2 NM_015697.8(COQ2):c.854C>G (p.Pro285Arg) SNV Likely pathogenic 522423 rs1161445886 GRCh37: 4:84191071-84191071
GRCh38: 4:83269918-83269918
14 LOC112997540 , COQ2 NM_015697.8(COQ2):c.16C>A (p.Gln6Lys) SNV Uncertain significance 214225 rs752575160 GRCh37: 4:84206052-84206052
GRCh38: 4:83284899-83284899
15 APTX NM_001195248.2(APTX):c.-5+2T>G SNV Uncertain significance 590828 rs1563993041 GRCh37: 9:33001563-33001563
GRCh38: 9:33001565-33001565
16 COQ2 NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr) SNV Uncertain significance 830038 rs1577986966 GRCh37: 4:84194683-84194683
GRCh38: 4:83273530-83273530
17 COQ2 NM_015697.8(COQ2):c.1217_1219AGA[1] (p.Lys407del) Microsatellite Uncertain significance 590829 rs765403087 GRCh37: 4:84185396-84185398
GRCh38: 4:83264243-83264245
18 COQ8A NM_020247.5(COQ8A):c.1939C>T (p.Gln647Ter) SNV Uncertain significance 590825 rs750925071 GRCh37: 1:227174433-227174433
GRCh38: 1:226986732-226986732
19 COQ8A NM_020247.5(COQ8A):c.1942T>G (p.Ter648Glu) SNV Uncertain significance 590826 rs766591347 GRCh37: 1:227174436-227174436
GRCh38: 1:226986735-226986735
20 PDSS2 NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs) Deletion Uncertain significance 522780 rs782439454 GRCh37: 6:107475832-107475833
GRCh38: 6:107154628-107154629
21 COQ2 NM_015697.8(COQ2):c.683A>G (p.Asn228Ser) SNV Uncertain significance 1439 rs121918232 GRCh37: 4:84194658-84194658
GRCh38: 4:83273505-83273505
22 COQ2 NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu) SNV Uncertain significance 1031931 GRCh37: 4:84194700-84194700
GRCh38: 4:83273547-83273547
23 PDSS2 NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln) SNV Uncertain significance 214989 rs201388841 GRCh37: 6:107475977-107475977
GRCh38: 6:107154773-107154773
24 PDSS2 NM_020381.4(PDSS2):c.837G>A (p.Met279Ile) SNV Uncertain significance 1032839 GRCh37: 6:107533352-107533352
GRCh38: 6:107212148-107212148
25 PDSS2 NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu) SNV Uncertain significance 214988 rs372737420 GRCh37: 6:107566754-107566754
GRCh38: 6:107245550-107245550
26 PDSS2 NM_020381.4(PDSS2):c.1151C>A (p.Ala384Asp) SNV Uncertain significance 1030705 GRCh37: 6:107475872-107475872
GRCh38: 6:107154668-107154668
27 COQ2 NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys) SNV Uncertain significance 1031928 GRCh37: 4:84188801-84188801
GRCh38: 4:83267648-83267648
28 COQ2 NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser) SNV Uncertain significance 1031929 GRCh37: 4:84188765-84188765
GRCh38: 4:83267612-83267612
29 COQ2 NM_001358921.2(COQ2):c.253+4A>T SNV Uncertain significance 813911 rs907149421 GRCh37: 4:84205661-84205661
GRCh38: 4:83284508-83284508
30 LOC112997540 , COQ2 NM_015697.9(COQ2):c.97C>T (p.His33Tyr) SNV Uncertain significance 1027998 GRCh37: 4:84205971-84205971
GRCh38: 4:83284818-83284818
31 LOC112997540 , COQ2 NM_015697.8(COQ2):c.64A>T (p.Arg22Ter) SNV Uncertain significance 136978 rs112033303 GRCh37: 4:84206004-84206004
GRCh38: 4:83284851-83284851
32 PDSS2 NM_020381.4(PDSS2):c.667G>A (p.Val223Ile) SNV Uncertain significance 214987 rs35555197 GRCh37: 6:107566787-107566787
GRCh38: 6:107245583-107245583
33 COQ2 NM_015697.8(COQ2):c.990C>T (p.Ser330=) SNV Benign 128830 rs1129617 GRCh37: 4:84188850-84188850
GRCh38: 4:83267697-83267697
34 COQ2 NM_015697.8(COQ2):c.894T>C (p.Asp298=) SNV Benign 128829 rs6535454 GRCh37: 4:84191031-84191031
GRCh38: 4:83269878-83269878
35 LOC112997540 , COQ2 NM_015697.8(COQ2):c.196G>T (p.Val66Leu) SNV Benign 128828 rs6818847 GRCh37: 4:84205872-84205872
GRCh38: 4:83284719-83284719

Expression for Leigh Syndrome with Nephrotic Syndrome

Search GEO for disease gene expression data for Leigh Syndrome with Nephrotic Syndrome.

Pathways for Leigh Syndrome with Nephrotic Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
9.7 PDSS2 COQ2

GO Terms for Leigh Syndrome with Nephrotic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.8 PDSS2 COQ8A COQ2

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

# Name GO ID Score Top Affiliating Genes
1 isoprenoid biosynthetic process GO:0008299 8.96 PDSS2 COQ2
2 ubiquinone biosynthetic process GO:0006744 8.8 PDSS2 COQ8A COQ2

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.13 PDSS2 COQ8A COQ2
2 prenyltransferase activity GO:0004659 8.62 PDSS2 COQ2

Sources for Leigh Syndrome with Nephrotic 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
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39 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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