MCID: LGH017
MIFTS: 13

Leigh Syndrome with Nephrotic Syndrome

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

Aliases & Classifications for Leigh Syndrome with Nephrotic Syndrome

MalaCards integrated aliases for Leigh Syndrome with Nephrotic Syndrome:

Name: Leigh Syndrome with Nephrotic Syndrome 59
Infantile Subacute Necrotizing Encephalopathy with Nephrotic Syndrome 59
Leigh Disease with Nephrotic Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
leigh syndrome with nephrotic syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA255249
ICD10 via Orphanet 34 G31.8

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 leigh syndrome. An important gene associated with Leigh Syndrome with Nephrotic Syndrome is PDSS2 (Decaprenyl Diphosphate Synthase Subunit 2), and among its related pathways/superpathways is Ubiquinol biosynthesis. Affiliated tissues include eye.

Related Diseases for Leigh Syndrome with Nephrotic Syndrome

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

# Related Disease Score Top Affiliating Genes
1 leigh syndrome 9.0 COQ2 PDSS2

Symptoms & Phenotypes for Leigh Syndrome with Nephrotic Syndrome

Drugs & Therapeutics for Leigh Syndrome with Nephrotic Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

41
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
Show member pathways
9.98 COQ2 PDSS2

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 isoprenoid biosynthetic process GO:0008299 8.96 COQ2 PDSS2
2 ubiquinone biosynthetic process GO:0006744 8.62 COQ2 PDSS2

Sources for Leigh Syndrome with Nephrotic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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