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Isolated NADH-CoQ reductase deficiency
1 OMIM reference -
25 associated genes
123 connected diseases
1 sign/symptom
Disease Type of connection
Leigh syndrome with leukodystrophy
Leber hereditary optic neuropathy
Maternally-inherited Leigh syndrome
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Acyl-CoA dehydrogenase 9 deficiency
Combined oxidative phosphorylation defect type 15
Huntington disease
Juvenile Huntington disease
Fatal infantile cytochrome C oxidase deficiency
Leigh syndrome with cardiomyopathy
Early-onset autosomal dominant Alzheimer disease
MELAS syndrome
Young adult-onset Parkinsonism
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Fibronectin glomerulopathy
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
Dubin-Johnson syndrome
Navajo neurohepatopathy
SURF1-related Charcot-Marie-Tooth disease type 4
Pseudohypoaldosteronism type 2E
Amyotrophic lateral sclerosis
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic type
Carnitine palmitoyl transferase 1A deficiency
Leber 'plus' disease
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Isolated cytochrome C oxidase deficiency
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Familial short QT syndrome
Behavioral variant of frontotemporal dementia
Familial isolated dilated cardiomyopathy
Progressive non-fluent aphasia
Semantic dementia
Acroosteolysis dominant type
Alagille syndrome due to a NOTCH2 point mutation
Blackfan-Diamond anemia
Familial glucocorticoid deficiency
Pyruvate dehydrogenase E2 deficiency
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Autosomal dominant nonsyndromic intellectual deficit
Sporadic Leigh syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Brugada syndrome
Camptodactyly - tall stature - scoliosis - hearing loss
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 4E
Constitutional mismatch repair deficiency syndrome
Craniometaphyseal dysplasia
Crouzon syndrome - acanthosis nigricans
Cutis gyrata - acanthosis nigricans - craniosynostosis
Dejerine-Sottas syndrome
Estrogen resistance syndrome
Familial dysautonomia
Giant cell glioblastoma
Hepatic veno-occlusive disease - immunodeficiency
Hereditary nonpolyposis colon cancer
Hypoplastic left heart syndrome
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Lacrimo-auriculo-dento-digital syndrome
Muenke syndrome
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Oculodentodigital dysplasia
Romano-Ward syndrome
Saethre-Chotzen syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Spinocerebellar ataxia type 19 / 22
Syndactyly type 3
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Familial infantile bilateral striatal necrosis
Genetic recurrent myoglobinuria
Isolated ATP synthase deficiency
Maternally-inherited spastic paraplegia
Mitochondrial nonsyndromic sensorineural deafness
NARP syndrome
Papillary or follicular thyroid carcinoma
Autosomal dominant Emery-Dreifuss muscular dystrophy
Cardiomyopathy - hypotonia - lactic acidosis
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
Hereditary arterial and articular multiple calcification syndrome
Idiopathic aplastic anemia
Immunodeficiency by defective expression of HLA class 2
Leigh syndrome with nephrotic syndrome
MMEP syndrome
Neuralgic amyotrophy
Niemann-Pick disease type C, adult neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, severe perinatal form
Postaxial acrofacial dysostosis
Purine nucleoside phosphorylase deficiency
Pyruvate dehydrogenase E3 deficiency
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Shwachman-Diamond syndrome
Treacher-Collins syndrome
Williams syndrome
- Isolated NADH-coenzyme Q reductase deficiency
- Isolated NADH-ubiquinone reductase deficiency
- Isolated mitochondrial respiratory chain complex I deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references

Very frequent
- Organic acid metabolism anomalies