MC1DN16
MCID: MTC163
MIFTS: 20

Mitochondrial Complex I Deficiency, Nuclear Type 16 (MC1DN16)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 16

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 16:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 16 58 76 30 6
Mc1dn16 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or childhood
highly variable phenotype and severity
early death may occur


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 16

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 16: 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. MC1DN16 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 16, is also known as mc1dn16. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 16 is NDUFAF5 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5). Affiliated tissues include liver and brain, and related phenotypes are agenesis of corpus callosum and seizures

Description from OMIM: 618238

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 16

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 16

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 16:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 33 very rare (1%) HP:0001274
2 seizures 33 very rare (1%) HP:0001250
3 optic atrophy 33 very rare (1%) HP:0000648
4 ptosis 33 HP:0000508
5 nystagmus 33 HP:0000639
6 spasticity 33 HP:0001257
7 dysarthria 33 HP:0001260
8 failure to thrive 33 HP:0001508
9 global developmental delay 33 HP:0001263
10 intrauterine growth retardation 33 HP:0001511
11 dystonia 33 HP:0001332
12 abnormality of extrapyramidal motor function 33 HP:0002071
13 choreoathetosis 33 HP:0001266

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
nystagmus
optic atrophy (in some patients)

Growth Other:
failure to thrive
intrauterine growth restriction (iugr)

Metabolic Features:
lactic acidosis

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

Neurologic Central Nervous System:
spasticity
dysarthria
global developmental delay
choreoathetosis
extrapyramidal signs
more
Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

618238

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 16

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 16

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 16

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 16:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 16 30 NDUFAF5

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 16

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 16:

42
Liver, Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 16

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 16:

# Title Authors Year
1
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. ( 21607760 )
2012
2
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. ( 19542079 )
2010
3
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. ( 18940309 )
2008

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 16

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 16:

76
# Symbol AA change Variation ID SNP ID
1 NDUFAF5 p.Leu229Pro VAR_054119 rs118203929
2 NDUFAF5 p.Leu159Phe VAR_067956 rs267606689
3 NDUFAF5 p.Gly250Val VAR_076864 rs757043077

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 16:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFAF5 NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro) single nucleotide variant Pathogenic rs118203929 GRCh37 Chromosome 20, 13782298: 13782298
2 NDUFAF5 NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro) single nucleotide variant Pathogenic rs118203929 GRCh38 Chromosome 20, 13801652: 13801652
3 NDUFAF5 NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe) single nucleotide variant Pathogenic rs267606689 GRCh37 Chromosome 20, 13775585: 13775585
4 NDUFAF5 NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe) single nucleotide variant Pathogenic rs267606689 GRCh38 Chromosome 20, 13794939: 13794939
5 NDUFAF5 NM_024120.4(NDUFAF5): c.749G> T (p.Gly250Val) single nucleotide variant Likely pathogenic rs757043077 GRCh37 Chromosome 20, 13789519: 13789519
6 NDUFAF5 NM_024120.4(NDUFAF5): c.749G> T (p.Gly250Val) single nucleotide variant Likely pathogenic rs757043077 GRCh38 Chromosome 20, 13808873: 13808873

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 16

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 16.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 16

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 16

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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