MC1DN10
MCID: MTC158
MIFTS: 21

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 57 74 29 6
Mc1dn10 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mitochondrial complex i deficiency, nuclear type 10:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

MeSH 44 D028361

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 10

UniProtKB/Swiss-Prot : 74 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, also known as mc1dn10, is related to leigh syndrome. 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

More information from OMIM: 618233 PS252010

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 10

Diseases related to Mitochondrial Complex I Deficiency, Nuclear Type 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leigh syndrome 9.5 NDUFAF2 ERCC8

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

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 very rare (1%) HP:0000639
2 seizures 32 very rare (1%) HP:0001250
3 optic atrophy 32 very rare (1%) HP:0000648
4 external ophthalmoplegia 32 very rare (1%) HP:0000544
5 dysphagia 32 HP:0002015
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290
8 feeding difficulties 32 HP:0011968
9 dysmetria 32 HP:0001310
10 apnea 32 HP:0002104
11 respiratory failure 32 HP:0002878
12 encephalopathy 32 HP:0001298
13 leukoencephalopathy 32 HP:0002352
14 central hypoventilation 32 HP:0007110

Symptoms via clinical synopsis from OMIM:

57
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 29 NDUFAF2

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 10

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

41
Liver, Spinal Cord

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 10

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

# Title Authors PMID Year
1
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 8 71
20818383 2010
2
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. 8 71
20571988 2010
3
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. 8 71
19384974 2009
4
The unique neuroradiology of complex I deficiency due to NDUFA12L defect. 8 71
18180188 2008
5
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 8 71
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 GRCh37 Pos GRCh38 Pos
1 NDUFAF2 NM_174889.5(NDUFAF2): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs1554076306 5:60241083-60241083 5:60945256-60945256
2 NDUFAF2 NM_174889.5(NDUFAF2): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs1554076309 5:60241091-60241091 5:60945264-60945264
3 NDUFAF2 NM_174889.5(NDUFAF2): c.103del (p.Ile35fs) deletion Pathogenic rs1554076324 5:60241185-60241185 5:60945358-60945358
4 NDUFAF2 NM_174889.5(NDUFAF2): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852863 5:60368963-60368963 5:61073136-61073136
5 ERCC8 ; NDUFAF2 NM_174889.5(NDUFAF2): c.114C> G (p.Tyr38Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs199754807 5:60241196-60241196 5:60945369-60945369

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
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44 MeSH
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51 NDF-RT
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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