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Leigh syndrome with nephrotic syndrome
2 OMIM references -
4 associated genes
42 connected diseases
No signs/symptoms info
Disease Type of connection
Isolated CoQ-cytochrome C reductase deficiency
Björnstad syndrome
GRACILE syndrome
Multiple system atrophy, cerebellar type
Multiple system atrophy, parkinsonian type
Pyruvate dehydrogenase E3 deficiency
Renal tubulopathy - encephalopathy - liver failure
Pyruvate dehydrogenase E3-binding protein deficiency
Oxoglutaricaciduria
Fibronectin glomerulopathy
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type I
Autosomal agammaglobulinemia
Chronic myeloid leukemia
Dedifferentiated liposarcoma
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency
Huntington disease
Juvenile Huntington disease
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Prolidase deficiency
SHORT syndrome
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Pyruvate dehydrogenase E2 deficiency
Classic maple syrup urine disease
Intermediate maple syrup urine disease
Intermittent maple syrup urine disease
Isolated NADH-CoQ reductase deficiency
Multiple acyl-CoA dehydrogenation deficiency, mild type
Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Reticular dysgenesis
Thiamine-responsive maple syrup urine disease
Translocation renal cell carcinoma
Synonym(s):
- Infantile subacute necrotizing encephalopathy with nephrotic syndrome
- Leigh disease with nephrotic syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
BCS1L Q9Y276603647
COQ2 Q96H96609825
DLD P09622238331
PDSS2 Q86YH6610564
No signs/symptoms info available.