MC1DN13
MCID: MTC160
MIFTS: 15

Mitochondrial Complex I Deficiency, Nuclear Type 13 (MC1DN13)

Categories: Genetic 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 58 76 30 6
Mc1dn13 58 76

Characteristics:

OMIM:

58
Miscellaneous:
death in infancy
onset at birth
one patient, born of consanguineous turkish parents, has been reported (last curated january 2019)

Inheritance:
autosomal recessive


HPO:

33
mitochondrial complex i deficiency, nuclear type 13:
Clinical modifier death in infancy
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 58 618235
MeSH 45 D028361
MedGen 43 CN257507

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 13

UniProtKB/Swiss-Prot : 76 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, is also known as mc1dn13. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 13 is NDUFA2 (NADH:Ubiquinone Oxidoreductase Subunit A2). Affiliated tissues include liver and brain, and related phenotypes are seizures and global developmental delay

Description from OMIM: 618235

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 13

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

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

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 global developmental delay 33 HP:0001263
3 hypoplasia of the corpus callosum 33 HP:0002079

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
global developmental delay
hypoplasia of the corpus callosum
white matter abnormalities consistent with leigh syndrome
coma after infection
more
Metabolic Features:
metabolic acidosis

Laboratory Abnormalities:
mitochondrial complex i deficiency in various tissues

Cardiovascular Heart:
hypertrophic cardiomyopathy

Respiratory:
apnea, episodic

Clinical features from OMIM:

618235

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 I Deficiency, Nuclear Type 13 30 NDUFA2

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 13

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

42
Liver, Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 13

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

# Title Authors Year
1
NDUFA2 complex I mutation leads to Leigh disease. ( 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 Variation Type Significance SNP ID Assembly Location
1 NDUFA2 NM_002488.4(NDUFA2): c.208+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome 5, 140647251: 140647251
2 NDUFA2 NM_002488.4(NDUFA2): c.208+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome 5, 140026836: 140026836

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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