MCID: MTC152
MIFTS: 9

Mitochondrial Complex I Deficiency, Nuclear Type 2

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 2

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 2:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 2 58 6
Mc1dn2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in early infancy or childhood


Classifications:



External Ids:

OMIM 58 618222

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 2

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 2, is also known as mc1dn2. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 2 is NDUFS8 (NADH:Ubiquinone Oxidoreductase Core Subunit S8).

Description from OMIM: 618222

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 2

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 2

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus

Respiratory:
respiratory insufficiency
apnea, episodic

Muscle Soft Tissue:
hypotonia

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

Neurologic Central Nervous System:
seizures
dysarthria
hyperreflexia
dyskinesia
dystonia
more
Cardiovascular Heart:
hypertrophic cardiomyopathy

Abdomen Gastrointestinal:
poor feeding

Clinical features from OMIM:

618222

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 2

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 2

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 2

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 2

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 2

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 2

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 2:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFS8 NM_002496.3(NDUFS8): c.236C> T (p.Pro79Leu) single nucleotide variant Likely pathogenic rs28939679 GRCh37 Chromosome 11, 67800614: 67800614
2 NDUFS8 NM_002496.3(NDUFS8): c.236C> T (p.Pro79Leu) single nucleotide variant Likely pathogenic rs28939679 GRCh38 Chromosome 11, 68033147: 68033147
3 NDUFS8 NM_002496.3(NDUFS8): c.305G> A (p.Arg102His) single nucleotide variant Uncertain significance rs121912638 GRCh37 Chromosome 11, 67800683: 67800683
4 NDUFS8 NM_002496.3(NDUFS8): c.305G> A (p.Arg102His) single nucleotide variant Uncertain significance rs121912638 GRCh38 Chromosome 11, 68033216: 68033216
5 NDUFS8 NM_002496.3(NDUFS8): c.254C> T (p.Pro85Leu) single nucleotide variant Pathogenic rs121912639 GRCh37 Chromosome 11, 67800632: 67800632
6 NDUFS8 NM_002496.3(NDUFS8): c.254C> T (p.Pro85Leu) single nucleotide variant Pathogenic rs121912639 GRCh38 Chromosome 11, 68033165: 68033165
7 NDUFS8 NM_002496.3(NDUFS8): c.413G> A (p.Arg138His) single nucleotide variant Pathogenic rs111033588 GRCh37 Chromosome 11, 67803760: 67803760
8 NDUFS8 NM_002496.3(NDUFS8): c.413G> A (p.Arg138His) single nucleotide variant Pathogenic rs111033588 GRCh38 Chromosome 11, 68036293: 68036293
9 NDUFS8 NM_002496.3(NDUFS8): c.229C> T (p.Arg77Trp) single nucleotide variant Uncertain significance rs146766138 GRCh37 Chromosome 11, 67800607: 67800607
10 NDUFS8 NM_002496.3(NDUFS8): c.229C> T (p.Arg77Trp) single nucleotide variant Uncertain significance rs146766138 GRCh38 Chromosome 11, 68033140: 68033140
11 NDUFS8 NM_002496.3(NDUFS8): c.476C> A (p.Ala159Asp) single nucleotide variant Pathogenic rs397514617 GRCh37 Chromosome 11, 67803823: 67803823
12 NDUFS8 NM_002496.3(NDUFS8): c.476C> A (p.Ala159Asp) single nucleotide variant Pathogenic rs397514617 GRCh38 Chromosome 11, 68036356: 68036356
13 NDUFS8 NM_002496.3(NDUFS8): c.187G> C (p.Glu63Gln) single nucleotide variant Pathogenic rs397514618 GRCh37 Chromosome 11, 67800467: 67800467
14 NDUFS8 NM_002496.3(NDUFS8): c.187G> C (p.Glu63Gln) single nucleotide variant Pathogenic rs397514618 GRCh38 Chromosome 11, 68033000: 68033000

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 2

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 2.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 2

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 2

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 2

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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