Mitochondrial Complex I Deficiency, Nuclear Type 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 6

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 6:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 6 ⁵⁸ ⁷⁶ ³⁰ ⁶

Mc1dn6 ⁵⁸ ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death
rapid progression and deterioration

HPO:

³³

mitochondrial complex i deficiency, nuclear type 6:
Onset and clinical course infantile onset

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 618228

MeSH ⁴⁵ D028361

MedGen ⁴³ CN257512

SNOMED-CT via HPO ⁷⁰ 14648003 214264003 278849000 more

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Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 6

UniProtKB/Swiss-Prot : ⁷⁶ 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

Description from OMIM: 618228

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Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 6

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Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 6

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 6:

³³ (show all 9)

#	Description	HPO Source Accession
1	brain atrophy ³³	HP:0012444
2	nystagmus ³³	HP:0000639
3	hyperreflexia ³³	HP:0001347
4	developmental regression ³³	HP:0002376
5	abnormal pyramidal sign ³³	HP:0007256
6	optic atrophy ³³	HP:0000648
7	ventriculomegaly ³³	HP:0002119
8	lethargy ³³	HP:0001254
9	muscular hypotonia of the trunk ³³	HP:0008936

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
brain atrophy
hyperreflexia
developmental regression
lethargy
enlarged ventricles
more

Growth Other:
failure to thrive

Cardiovascular Heart:
hypertrophic cardiomyopathy

Muscle Soft Tissue:
axial hypotonia
peripheral hypertonia

Head And Neck Eyes:
nystagmus
optic atrophy

Respiratory:
respiratory insufficiency

Metabolic Features:
lactic acidosis

Laboratory Abnormalities:
increased serum and csf lactate mitochondrial respiratory complex i deficiency in various tissues

Clinical features from OMIM:

618228

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Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 6

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 6

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Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 6

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 6:

#	Genetic test	Affiliating Genes
1	Mitochondrial Complex I Deficiency, Nuclear Type 6 ³⁰	NDUFS2

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Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 6

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 6:

⁴²

Liver, Brain

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Publications for Mitochondrial Complex I Deficiency, Nuclear Type 6

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 6:

#	Title	Authors	Year
1	Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. ( 11220739 )	Loeffen J...van den Heuvel L	2001

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Genes for Mitochondrial Complex I Deficiency, Nuclear Type 6

Genes related to Mitochondrial Complex I Deficiency, Nuclear Type 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NDUFS2	NADH:Ubiquinone Oxidoreductase Core Subunit S2	Protein Coding	1328.86	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	11220739

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Variations for Mitochondrial Complex I Deficiency, Nuclear Type 6

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 6:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	NDUFS2	p.Arg228Gln	VAR_019535	rs121434427
2	NDUFS2	p.Pro229Gln	VAR_019536	rs121434428
3	NDUFS2	p.Ser413Pro	VAR_019537	rs121434429

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 6:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NDUFS2	NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln)	single nucleotide variant	Pathogenic	rs121434427	GRCh37	Chromosome 1, 161179702: 161179702
2	NDUFS2	NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln)	single nucleotide variant	Pathogenic	rs121434427	GRCh38	Chromosome 1, 161209912: 161209912
3	NDUFS2	NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln)	single nucleotide variant	Pathogenic	rs121434428	GRCh37	Chromosome 1, 161179705: 161179705
4	NDUFS2	NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln)	single nucleotide variant	Pathogenic	rs121434428	GRCh38	Chromosome 1, 161209915: 161209915
5	NDUFS2	NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro)	single nucleotide variant	Pathogenic	rs121434429	GRCh37	Chromosome 1, 161183463: 161183463
6	NDUFS2	NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro)	single nucleotide variant	Pathogenic	rs121434429	GRCh38	Chromosome 1, 161213673: 161213673

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Expression for Mitochondrial Complex I Deficiency, Nuclear Type 6

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 6.

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Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 6

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GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 6

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⁷⁶ UniProtKB/Swiss-Prot

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Mitochondrial Complex I Deficiency, Nuclear Type 6 (MC1DN6)

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 6

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 6:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 6

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 6

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 6

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 6:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 6

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 6

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 6:

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 6

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 6:

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 6

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 6:

Genes for Mitochondrial Complex I Deficiency, Nuclear Type 6

Genes related to Mitochondrial Complex I Deficiency, Nuclear Type 6 (1 elite genes):

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 6

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 6:

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 6:

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 6

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 6

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 6

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 6