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Leigh syndrome with leukodystrophy
14 associated genes
85 connected diseases
No signs/symptoms info
Disease Type of connection
Isolated NADH-CoQ reductase deficiency
Fatal infantile cytochrome C oxidase deficiency
Leigh syndrome with cardiomyopathy
SURF1-related Charcot-Marie-Tooth disease type 4
Familial isolated dilated cardiomyopathy
Biotin-responsive basal ganglia disease
Gastrointestinal stromal tumor
Hereditary pheochromocytoma-paraganglioma
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Isolated succinate-CoQ reductase deficiency
Thiamine-responsive encephalopathy
Young adult-onset Parkinsonism
Isolated CoQ-cytochrome C reductase deficiency
Leber hereditary optic neuropathy
MELAS syndrome
Maternally-inherited Leigh syndrome
Early-onset autosomal dominant Alzheimer disease
Huntington disease
Juvenile Huntington 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
Carnitine palmitoyl transferase 1A deficiency
Dubin-Johnson syndrome
Navajo neurohepatopathy
Burkitt lymphoma
Fibronectin glomerulopathy
Precursor T-cell acute lymphoblastic leukemia
Leber 'plus' disease
Dedifferentiated liposarcoma
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Pseudohypoaldosteronism type 2E
Well-differentiated liposarcoma
Isolated cytochrome C oxidase deficiency
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic type
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Sporadic Leigh syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Acatalasemia
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Constitutional mismatch repair deficiency syndrome
Craniometaphyseal dysplasia
Hereditary nonpolyposis colon cancer
Hypoplastic left heart syndrome
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Oculodentodigital dysplasia
Syndactyly type 3
Triose phosphate-isomerase deficiency
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Papillary or follicular thyroid carcinoma
Acroosteolysis dominant type
Acyl-CoA dehydrogenase 9 deficiency
Alagille syndrome due to a NOTCH2 point mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Combined oxidative phosphorylation defect type 9
Cystic leukoencephalopathy without megalencephaly
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Familial short QT syndrome
Hereditary arterial and articular multiple calcification syndrome
Idiopathic aplastic anemia
Immunodeficiency by defective expression of HLA class 2
MMEP syndrome
Postaxial acrofacial dysostosis
Progressive non-fluent aphasia
Purine nucleoside phosphorylase deficiency
Pyruvate dehydrogenase E2 deficiency
Semantic dementia
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Shwachman-Diamond syndrome
Treacher-Collins syndrome
Williams syndrome
Synonym(s):
- Infantile subacute necrotizing encephalopathy with leukodystrophy
- Leigh disease with leukodystrophy
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:
No OMIM references
No MeSH references
No signs/symptoms info available.