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 ⁵⁶ ⁷³

Mitochondrial Complex 1 Deficiency, Nuclear Type 6 ²⁹ ⁶

Mc1dn6 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death
rapid progression and deterioration

HPO:

³¹

mitochondrial complex i deficiency, nuclear type 6:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618228

OMIM Phenotypic Series ⁵⁶ PS252010

MeSH ⁴³ D028361

MedGen ⁴¹ C4748759 CN257512

SNOMED-CT via HPO ⁶⁸ 14648003 190882007 214264003 more

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Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 6

UniProtKB/Swiss-Prot : ⁷³ 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 mitochondrial complex 1 deficiency, nuclear type 6. 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 optic atrophy and developmental regression

More information from OMIM: 618228 PS252010

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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:

³¹ (show all 13)

#	Description	HPO Source Accession
1	optic atrophy ³¹	HP:0000648
2	developmental regression ³¹	HP:0002376
3	failure to thrive ³¹	HP:0001508
4	abnormal pyramidal sign ³¹	HP:0007256
5	hypertrophic cardiomyopathy ³¹	HP:0001639
6	nystagmus ³¹	HP:0000639
7	hyperreflexia ³¹	HP:0001347
8	respiratory insufficiency ³¹	HP:0002093
9	ventriculomegaly ³¹	HP:0002119
10	lethargy ³¹	HP:0001254
11	lactic acidosis ³¹	HP:0003128
12	brain atrophy ³¹	HP:0012444
13	muscular hypotonia of the trunk ³¹	HP:0008936

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
optic atrophy
nystagmus

Growth Other:
failure to thrive

Respiratory:
respiratory insufficiency

Muscle Soft Tissue:
axial hypotonia
peripheral hypertonia

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

Cardiovascular Heart:
hypertrophic cardiomyopathy

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 1 Deficiency, Nuclear Type 6 ²⁹	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:

⁴⁰

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	PMID	Year
1	Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. ⁵⁶ ⁶	Loeffen J...van den Heuvel L	11220739	2001
2	Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. ⁵⁶	Bar-Meir M...Saada A	11743516	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	1318.52	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	11220739

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Variations for Mitochondrial Complex I Deficiency, Nuclear Type 6

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

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	NDUFS2	NM_004550.4(NDUFS2):c.683G>A (p.Arg228Gln)	SNV	Pathogenic	6709	rs121434427	1:161179702-161179702	1:161209912-161209912
2	NDUFS2	NM_004550.4(NDUFS2):c.686C>A (p.Pro229Gln)	SNV	Pathogenic	6710	rs121434428	1:161179705-161179705	1:161209915-161209915
3	NDUFS2	NM_004550.4(NDUFS2):c.1237T>C (p.Ser413Pro)	SNV	Pathogenic	6711	rs121434429	1:161183463-161183463	1:161213673-161213673
4	NDUFS2	NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln)	SNV	Conflicting interpretations of pathogenicity	214787	rs35086265	1:161180482-161180482	1:161210692-161210692
5	NDUFS2	NM_004550.4(NDUFS2):c.1138C>G (p.His380Asp)	SNV	Uncertain significance	214795	rs144411579	1:161183191-161183191	1:161213401-161213401
6	NDUFS2	NM_004550.4(NDUFS2):c.934G>C (p.Asp312His)	SNV	Uncertain significance	638369		1:161180448-161180448	1:161210658-161210658
7	NDUFS2	NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr)	SNV	Benign	293269	rs11538340	1:161172233-161172233	1:161202443-161202443

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

⁷³

#	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

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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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Sources for Mitochondrial Complex I Deficiency, Nuclear Type 6

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

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

UniProtKB/Swiss-Prot 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