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Leigh syndrome with cardiomyopathy
8 associated genes
67 connected diseases
No signs/symptoms info
Disease Type of connection
Fatal infantile cytochrome C oxidase deficiency
Leigh syndrome with leukodystrophy
Isolated cytochrome C oxidase deficiency
SURF1-related Charcot-Marie-Tooth disease type 4
Pyruvate dehydrogenase E1-alpha deficiency
Rare isolated myopia
Isolated NADH-CoQ reductase deficiency
Dedifferentiated liposarcoma
Pseudohypoaldosteronism type 2E
Well-differentiated liposarcoma
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
Isolated CoQ-cytochrome C reductase deficiency
Pyruvate dehydrogenase E1-beta deficiency
CLN3 disease
Atypical hemolytic uremic syndrome with DGKE deficiency
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Burkitt lymphoma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Precursor T-cell acute lymphoblastic leukemia
Argininosuccinic aciduria
Pyruvate dehydrogenase E2 deficiency
Huntington disease
Juvenile Huntington disease
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial isolated dilated cardiomyopathy
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Keratosis follicularis spinulosa decalvans
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
X-linked Charcot-Marie-Tooth disease type 6
Amish lethal microcephaly
Cardiomyopathy - hypotonia - lactic acidosis
Citrullinemia type II
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
MELAS syndrome
Maternally-inherited Leigh syndrome
Neonatal intrahepatic cholestasis due to citrin deficiency
Progressive demyelinating neuropathy with bilateral striatal necrosis
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase phosphatase deficiency
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Hamel cerebro-palato-cardiac syndrome
Idiopathic aplastic anemia
Leukoencephalopathy - dystonia - motor neuropathy
Neuralgic amyotrophy
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Oxoglutaricaciduria
Peroxisomal acyl-CoA oxidase deficiency
Shwachman-Diamond syndrome
Translocation renal cell carcinoma
Williams syndrome
X-linked intellectual deficit, Golabi-Ito-Hall type
X-linked intellectual deficit, Porteous type
X-linked intellectual deficit, Sutherland-Haan type
Synonym(s):
- Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
- Cardiomyopathy with myopathy due to COX deficiency
- Leigh disease with myopathy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.