MC1DN6
MCID: MTC154
MIFTS: 21
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Mitochondrial Complex I Deficiency, Nuclear Type 6 (MC1DN6)
Categories:
Genetic diseases
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MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 6:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy early death rapid progression and deterioration HPO:32
mitochondrial complex i deficiency, nuclear type 6:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications: |
UniProtKB/Swiss-Prot
:
74
Mitochondrial complex I deficiency, nuclear type 6: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN6 transmission pattern is consistent with autosomal recessive inheritance.
MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 6, is also known as mc1dn6. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 6 is NDUFS2 (NADH:Ubiquinone Oxidoreductase Core Subunit S2). Affiliated tissues include liver and brain, and related phenotypes are brain atrophy and nystagmus |
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Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 6:32 (show all 13)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:618228 |
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MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 6:41
Liver,
Brain
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Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 6:
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ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 6:6
UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 6:74
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GEO
for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 6.
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