MC1DN10
MCID: MTC158
MIFTS: 19

Mitochondrial Complex I Deficiency, Nuclear Type 10 (MC1DN10)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 10

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 10:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 10 58 76 30 6
Mc1dn10 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in infancy or childhood
early death may occur
episodic decompensation may occur with concurrent infection


HPO:

33
mitochondrial complex i deficiency, nuclear type 10:
Onset and clinical course progressive


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 10

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 10: 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. MC1DN10 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 10, is also known as mc1dn10. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 10 is NDUFAF2 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 2). Affiliated tissues include liver and spinal cord, and related phenotypes are nystagmus and seizures

Description from OMIM: 618233

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 10

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 10

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 10:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 very rare (1%) HP:0000639
2 seizures 33 very rare (1%) HP:0001250
3 optic atrophy 33 very rare (1%) HP:0000648
4 external ophthalmoplegia 33 very rare (1%) HP:0000544
5 dysphagia 33 HP:0002015
6 global developmental delay 33 HP:0001263
7 feeding difficulties 33 HP:0011968
8 dysmetria 33 HP:0001310
9 apnea 33 HP:0002104
10 respiratory failure 33 HP:0002878
11 encephalopathy 33 HP:0001298
12 central hypoventilation 33 HP:0007110
13 leukoencephalopathy 33 HP:0002352

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
global developmental delay
dysmetria
leukoencephalopathy
seizures (in some patients)
more
Respiratory:
respiratory failure
central hypoventilation
apnea, episodic

Head And Neck Eyes:
optic atrophy (in some patients)
nystagmus (in some patients)
external ophthalmoplegia (in some patients)

Abdomen Gastrointestinal:
dysphagia
poor feeding

Muscle Soft Tissue:
hypotonia

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

Clinical features from OMIM:

618233

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 10

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 10

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 10

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 10:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 10 30 NDUFAF2

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 10

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 10:

42
Liver, Spinal Cord

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 10

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 10:

# Title Authors Year
1
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. ( 20571988 )
2010
2
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. ( 20818383 )
2010
3
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. ( 19384974 )
2009
4
The unique neuroradiology of complex I deficiency due to NDUFA12L defect. ( 18180188 )
2008
5
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. ( 16200211 )
2005

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 10

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFAF2 NM_174889.4(NDUFAF2): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs137852863 GRCh37 Chromosome 5, 60368963: 60368963
2 NDUFAF2 NM_174889.4(NDUFAF2): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs137852863 GRCh38 Chromosome 5, 61073136: 61073136
3 NDUFAF2 NM_174889.4(NDUFAF2): c.103delA (p.Ile35Serfs) deletion Pathogenic rs1554076324 GRCh37 Chromosome 5, 60241185: 60241185
4 NDUFAF2 NM_174889.4(NDUFAF2): c.103delA (p.Ile35Serfs) deletion Pathogenic rs1554076324 GRCh38 Chromosome 5, 60945358: 60945358
5 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.114C> G (p.Tyr38Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs199754807 GRCh38 Chromosome 5, 60945369: 60945369
6 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.114C> G (p.Tyr38Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs199754807 GRCh37 Chromosome 5, 60241196: 60241196
7 NDUFAF2 NM_174889.4(NDUFAF2): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs1554076306 GRCh38 Chromosome 5, 60945256: 60945256
8 NDUFAF2 NM_174889.4(NDUFAF2): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs1554076306 GRCh37 Chromosome 5, 60241083: 60241083
9 NDUFAF2 NM_174889.4(NDUFAF2): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs1554076309 GRCh37 Chromosome 5, 60241091: 60241091
10 NDUFAF2 NM_174889.4(NDUFAF2): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs1554076309 GRCh38 Chromosome 5, 60945264: 60945264

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 10

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 10.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 10

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 10

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 10

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