MC1DN2
MCID: MTC152
MIFTS: 18

Mitochondrial Complex I Deficiency, Nuclear Type 2 (MC1DN2)

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 76 30 6
Mc1dn2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in early infancy or childhood


HPO:

33
mitochondrial complex i deficiency, nuclear type 2:
Onset and clinical course variable expressivity


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 2

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 2: 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. MC1DN2 inheritance is autosomal recessive.

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). Affiliated tissues include liver, and related phenotypes are global developmental delay and seizures

Description from OMIM: 618222

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 2

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

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 2:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 very rare (1%) HP:0001263
2 seizures 33 HP:0001250
3 dysarthria 33 HP:0001260
4 hyperreflexia 33 HP:0001347
5 respiratory insufficiency 33 HP:0002093
6 dyskinesia 33 HP:0100660
7 dystonia 33 HP:0001332
8 apnea 33 HP:0002104
9 difficulty walking 33 HP:0002355

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

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 2:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 2 30 NDUFS8

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 2

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 2:

42
Liver

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 2

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 2:

# Title Authors Year
1
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. ( 22499348 )
2012
2
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. ( 15159508 )
2004
3
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. ( 9837812 )
1998

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 2

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 2:

76
# Symbol AA change Variation ID SNP ID
1 NDUFS8 p.Pro79Leu VAR_019538 rs28939679
2 NDUFS8 p.Arg102His VAR_019539 rs121912638
3 NDUFS8 p.Glu63Gln VAR_081440 rs397514618

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_002496.2(NDUFS8): c.236C> T (p.Pro79Leu) single nucleotide variant Likely pathogenic rs28939679 GRCh37 Chromosome 11, 67800614: 67800614
2 NDUFS8 NM_002496.2(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_002496.2(NDUFS8): c.229C> T (p.Arg77Trp) single nucleotide variant Uncertain significance rs146766138 GRCh37 Chromosome 11, 67800607: 67800607
10 NDUFS8 NM_002496.2(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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