MCID: LGH017
MIFTS: 21

Leigh Syndrome with Nephrotic Syndrome

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


Inheritance:

Autosomal recessive 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

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


Summaries for Leigh Syndrome with Nephrotic Syndrome

Orphanet: 58 A rare, genetic neurometabolic disease characterized by encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral, symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome.

MalaCards based summary: Leigh Syndrome with Nephrotic Syndrome, also known as infantile subacute necrotizing encephalopathy with nephrotic syndrome, is related to leigh syndrome and nephrotic syndrome. An important gene associated with Leigh Syndrome with Nephrotic Syndrome is COQ2 (Coenzyme Q2, Polyprenyltransferase), and among its related pathways/superpathways is Nephrotic syndrome. 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 30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrotic syndrome 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000100
2 hypoalbuminemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003073
3 heavy proteinuria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012597
4 developmental regression 58 30 Frequent (33%) Frequent (79-30%)
HP:0002376
5 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
6 increased serum lactate 58 30 Frequent (33%) Frequent (79-30%)
HP:0002151
7 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
8 generalized edema 58 30 Frequent (33%) Frequent (79-30%)
HP:0007430
9 episodic vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002572
10 focal t2 hyperintense basal ganglia lesion 58 30 Frequent (33%) Frequent (79-30%)
HP:0007183
11 severe lactic acidosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0004900
12 eeg with focal spikes 58 30 Frequent (33%) Frequent (79-30%)
HP:0011193
13 bilateral tonic-clonic seizure with focal onset 30 Frequent (33%) HP:0007334
14 cardiomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001640
15 oligohydramnios 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001562
16 renal cyst 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000107
17 gastrostomy tube feeding in infancy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011471
18 tubulointerstitial nephritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001970
19 renal tubular acidosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001947
20 cerebral visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100704
21 undetectable visual evoked potentials 58 30 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

Organs/tissues related to Leigh Syndrome with Nephrotic Syndrome:

MalaCards : Eye

Publications for Leigh Syndrome with Nephrotic Syndrome

Variations for Leigh Syndrome with Nephrotic Syndrome

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 10.3 PDSS2 COQ2

GO Terms for Leigh Syndrome with Nephrotic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 ubiquinone biosynthetic process GO:0006744 9.26 PDSS2 COQ2
2 isoprenoid biosynthetic process GO:0008299 8.92 PDSS2 COQ2

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

# Name GO ID Score Top Affiliating Genes
1 prenyltransferase activity GO:0004659 8.92 PDSS2 COQ2

Sources for Leigh Syndrome with Nephrotic Syndrome

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
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