MCID: MTC154
MIFTS: 9

Mitochondrial Complex I Deficiency, Nuclear Type 6

Categories: Genetic diseases

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:



External Ids:

OMIM 58 618228

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

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 6

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

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

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

Genetic Tests for 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:

42
Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 6

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

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 6

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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