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 56 73
Mitochondrial Complex 1 Deficiency, Nuclear Type 10 29 6
Mc1dn10 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
mitochondrial complex i deficiency, nuclear type 10:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 10

UniProtKB/Swiss-Prot : 73 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 mitochondrial complex 1 deficiency, nuclear type 10. 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 optic atrophy and nystagmus

More information from OMIM: 618233 PS252010

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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 31 very rare (1%) HP:0000648
2 nystagmus 31 very rare (1%) HP:0000639
3 external ophthalmoplegia 31 very rare (1%) HP:0000544
4 seizure 31 very rare (1%) HP:0001250
5 global developmental delay 31 HP:0001263
6 dysphagia 31 HP:0002015
7 feeding difficulties 31 HP:0011968
8 apnea 31 HP:0002104
9 dysmetria 31 HP:0001310
10 respiratory failure 31 HP:0002878
11 encephalopathy 31 HP:0001298
12 leukoencephalopathy 31 HP:0002352
13 generalized hypotonia 31 HP:0001290
14 central hypoventilation 31 HP:0007110

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
ataxia
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 1 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:

40
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. 6 56
20818383 2010
2
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. 6 56
20571988 2010
3
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. 56 6
19384974 2009
4
The unique neuroradiology of complex I deficiency due to NDUFA12L defect. 56 6
18180188 2008
5
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 6 56
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDUFAF2 NM_174889.5(NDUFAF2):c.1A>T (p.Met1Leu)SNV Pathogenic 496596 rs1554076306 5:60241083-60241083 5:60945256-60945256
2 NDUFAF2 NM_174889.5(NDUFAF2):c.9G>A (p.Trp3Ter)SNV Pathogenic 496598 rs1554076309 5:60241091-60241091 5:60945264-60945264
3 NDUFAF2 NM_174889.5(NDUFAF2):c.103del (p.Ile35fs)deletion Pathogenic 1595 rs1554076324 5:60241185-60241185 5:60945358-60945358
4 NDUFAF2 NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter)SNV Pathogenic/Likely pathogenic 1594 rs137852863 5:60368963-60368963 5:61073136-61073136
5 ERCC8 , NDUFAF2 NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)SNV Conflicting interpretations of pathogenicity 419231 rs199754807 5:60241196-60241196 5:60945369-60945369
6 NDUFAF2 NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=)SNV Benign/Likely benign 138457 rs77878573 5:60448734-60448734 5:61152907-61152907

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
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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