MC1DN13
MCID: MTC160
MIFTS: 22

Mitochondrial Complex I Deficiency, Nuclear Type 13 (MC1DN13)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 13

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 13:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 13 57 72
Mc1dn13 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 13 29 6
Nuclear Type Mitochondrial Complex I Deficiency 13 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth (in some patients)
death in infancy (in 1 patient)


HPO:

31
mitochondrial complex i deficiency, nuclear type 13:
Onset and clinical course death in infancy congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 13

UniProtKB/Swiss-Prot : 72 Mitochondrial complex I deficiency, nuclear type 13: 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. MC1DN13 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 13, also known as mc1dn13, is related to mitochondrial complex i deficiency, nuclear type 1. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 13 is NDUFA2 (NADH:Ubiquinone Oxidoreductase Subunit A2). Affiliated tissues include brain, and related phenotypes are global developmental delay and hypertrophic cardiomyopathy

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFA2 on chromosome 5q31.3.

More information from OMIM: 618235 PS252010

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 13

Diseases related to Mitochondrial Complex I Deficiency, Nuclear Type 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial complex i deficiency, nuclear type 1 9.5 TMCO6 NDUFA2

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 13

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 13:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 hypertrophic cardiomyopathy 31 HP:0001639
3 apnea 31 HP:0002104
4 hypoplasia of the corpus callosum 31 HP:0002079
5 metabolic acidosis 31 HP:0001942
6 cerebral atrophy 31 HP:0002059
7 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
global developmental delay
hypoplasia of the corpus callosum
coma after infection
cerebral atrophy seen on brain imaging
more
Metabolic Features:
metabolic acidosis
elevated lactate seen on mr spectroscopy

Laboratory Abnormalities:
mitochondrial complex i deficiency in various tissues

Cardiovascular Heart:
hypertrophic cardiomyopathy

Respiratory:
apnea, episodic

Clinical features from OMIM®:

618235 (Updated 20-May-2021)

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 13

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 13

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 13

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 13:

# Genetic test Affiliating Genes
1 Mitochondrial Complex 1 Deficiency, Nuclear Type 13 29 NDUFA2

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 13

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 13:

40
Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 13

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 13:

# Title Authors PMID Year
1
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder. 6 57
32154054 2020
2
Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy. 6 57
28857146 2018
3
Whole exome sequencing in patients with white matter abnormalities. 6 57
27159321 2016
4
NDUFA2 complex I mutation leads to Leigh disease. 6 57
18513682 2008

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 13

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 13:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFA2 , TMCO6 NM_002488.4(NDUFA2):c.208+5G>A SNV Pathogenic 7515 rs1168752295 GRCh37: 5:140026836-140026836
GRCh38: 5:140647251-140647251
2 NDUFA2 , TMCO6 NM_002488.4(NDUFA2):c.134A>C (p.Lys45Thr) SNV Pathogenic 214711 rs757982865 GRCh37: 5:140026915-140026915
GRCh38: 5:140647330-140647330
3 NDUFA2 , TMCO6 NM_001185012.1(NDUFA2):c.*41del Deletion Pathogenic 214712 rs863224084 GRCh37: 5:140025247-140025247
GRCh38: 5:140645662-140645662
4 NDUFA2 , TMCO6 NM_002488.5(NDUFA2):c.170A>C (p.Glu57Ala) SNV Pathogenic 978071 GRCh37: 5:140026879-140026879
GRCh38: 5:140647294-140647294

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 13

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 13.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 13

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 13

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 13

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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