MC1DN16
MCID: MTC163
MIFTS: 23

Mitochondrial Complex I Deficiency, Nuclear Type 16 (MC1DN16)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn16 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 16 29 6
Nuclear Type Mitochondrial Complex I Deficiency 16 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mitochondrial complex i deficiency, nuclear type 16:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 16

UniProtKB/Swiss-Prot : 72 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 brain, and related phenotypes are agenesis of corpus callosum and optic atrophy

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFAF5 on chromosome 20p12.1.

More information from OMIM: 618238 PS252010

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 very rare (1%) HP:0001274
2 optic atrophy 31 very rare (1%) HP:0000648
3 seizure 31 very rare (1%) HP:0001250
4 spasticity 31 HP:0001257
5 failure to thrive 31 HP:0001508
6 ptosis 31 HP:0000508
7 nystagmus 31 HP:0000639
8 dysarthria 31 HP:0001260
9 global developmental delay 31 HP:0001263
10 intrauterine growth retardation 31 HP:0001511
11 abnormality of extrapyramidal motor function 31 HP:0002071
12 dystonia 31 HP:0001332
13 lactic acidosis 31 HP:0003128
14 feeding difficulties 31 HP:0011968
15 choreoathetosis 31 HP:0001266
16 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
dysarthria
global developmental delay
choreoathetosis
extrapyramidal signs
more
Head And Neck Eyes:
ptosis
nystagmus
optic atrophy (in some patients)

Abdomen Gastrointestinal:
feeding difficulties

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

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

Metabolic Features:
lactic acidosis

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

618238 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 16 29 NDUFAF5

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 16

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

40
Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 16

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

# Title Authors PMID Year
1
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. 6 57
21607760 2012
2
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. 57 6
19542079 2010
3
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. 57 6
18940309 2008

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 16

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFAF5 NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) SNV Pathogenic 570 rs118203929 GRCh37: 20:13782298-13782298
GRCh38: 20:13801652-13801652
2 NDUFAF5 NM_024120.5(NDUFAF5):c.477A>C (p.Leu159Phe) SNV Pathogenic 571 rs267606689 GRCh37: 20:13775585-13775585
GRCh38: 20:13794939-13794939
3 NDUFAF5 NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) SNV Pathogenic 372253 rs757043077 GRCh37: 20:13789519-13789519
GRCh38: 20:13808873-13808873
4 NDUFAF5 NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu) SNV Likely pathogenic 803603 rs1600305570 GRCh37: 20:13765860-13765860
GRCh38: 20:13785214-13785214
5 NDUFAF5 NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) Duplication Uncertain significance 374218 rs778575439 GRCh37: 20:13797841-13797842
GRCh38: 20:13817195-13817196
6 NDUFAF5 NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) SNV Uncertain significance 800896 rs1040187200 GRCh37: 20:13797151-13797151
GRCh38: 20:13816505-13816505
7 NDUFAF5 NM_024120.5(NDUFAF5):c.222+8C>G SNV Benign 559166 rs113659919 GRCh37: 20:13765944-13765944
GRCh38: 20:13785298-13785298
8 NDUFAF5 NM_024120.5(NDUFAF5):c.222+9_222+10insGCGGGGCGGCGGGGCG Insertion Benign 810933 rs1600306218 GRCh37: 20:13765943-13765944
GRCh38: 20:13785297-13785298
9 NDUFAF5 NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) SNV Benign 136600 rs139219896 GRCh37: 20:13765897-13765897
GRCh38: 20:13785251-13785251

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

72
# 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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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