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

Sources

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 ⁶

Mc1dn6 ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death
rapid progression and deterioration

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 618228

Sources

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 6

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 brain.

Description from OMIM: 618228

Sources

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 6

Sources

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

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

Sources

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

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

Sources

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 6

Sources

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 6

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

⁴²

Brain

Sources

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 6

Sources

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	900	Molecular basis known ⁵⁸ Pathogenic ⁶	11220739

Sources

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 6

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

Sources

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 6

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

Sources

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 6

Sources

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 6

Sources

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia