MC1DN22
MCID: MTC168
MIFTS: 15

Mitochondrial Complex I Deficiency, Nuclear Type 22 (MC1DN22)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 22

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 22:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 22 58 76 30 6
Mc1dn22 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur
two unrelated patients have been reported (last curated january 2019)


HPO:

33
mitochondrial complex i deficiency, nuclear type 22:
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 58 618243
MeSH 45 D028361
MedGen 43 CN257520
SNOMED-CT via HPO 70 224958001

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 22

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 22: 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. MC1DN22 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 22, is also known as mc1dn22. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 22 is NDUFA10 (NADH:Ubiquinone Oxidoreductase Subunit A10). Affiliated tissues include liver, and related phenotypes are global developmental delay and poor head control

Description from OMIM: 618243

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 22

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 22

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 22:

33
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 HP:0001263
2 poor head control 33 HP:0002421

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
respiratory insufficiency

Growth Other:
intrauterine growth retardation

Neurologic Central Nervous System:
poor head control
developmental delay
inability to sit or walk
white matter abnormalities consistent with leigh syndrome

Muscle Soft Tissue:
hypotonia

Cardiovascular Heart:
hypertrophic cardiomyopathy

Metabolic Features:
lactic acidosis

Cardiovascular Vascular:
pulmonary hypertension

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

Clinical features from OMIM:

618243

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 22

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 22

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 22

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 22:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 22 30 NDUFA10

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 22

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 22:

42
Liver

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 22

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 22:

# Title Authors Year
1
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. ( 26741492 )
2016
2
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. ( 21150889 )
2011

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 22

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 22:

76
# Symbol AA change Variation ID SNP ID
1 NDUFA10 p.Gln142Arg VAR_078937 rs387906873

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 22:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFA10 NM_004544.3(NDUFA10): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs387906872 GRCh37 Chromosome 2, 240964718: 240964718
2 NDUFA10 NM_004544.3(NDUFA10): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs387906872 GRCh38 Chromosome 2, 240025301: 240025301
3 NDUFA10 NM_004544.3(NDUFA10): c.425A> G (p.Gln142Arg) single nucleotide variant Pathogenic rs387906873 GRCh37 Chromosome 2, 240960649: 240960649
4 NDUFA10 NM_004544.3(NDUFA10): c.425A> G (p.Gln142Arg) single nucleotide variant Pathogenic rs387906873 GRCh38 Chromosome 2, 240021232: 240021232
5 NDUFA10 NM_004544.3(NDUFA10): c.881T> C (p.Leu294Pro) single nucleotide variant Pathogenic rs1057519414 GRCh37 Chromosome 2, 240944636: 240944636
6 NDUFA10 NM_004544.3(NDUFA10): c.881T> C (p.Leu294Pro) single nucleotide variant Pathogenic rs1057519414 GRCh38 Chromosome 2, 240005219: 240005219
7 NDUFA10 NM_004544.3(NDUFA10): c.384_385insAAT (p.Ser128_Tyr129insAsn) insertion Pathogenic rs1057519415 GRCh37 Chromosome 2, 240960689: 240960690
8 NDUFA10 NM_004544.3(NDUFA10): c.384_385insAAT (p.Ser128_Tyr129insAsn) insertion Pathogenic rs1057519415 GRCh38 Chromosome 2, 240021272: 240021273

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 22

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 22.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 22

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 22

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 22

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
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39 LifeMap
41 LOVD
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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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