MC1DN22
MCID: MTC168
MIFTS: 19

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 56 73
Mitochondrial Complex 1 Deficiency, Nuclear Type 22 29 6
Mc1dn22 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
mitochondrial complex i deficiency, nuclear type 22:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 56 618243
OMIM Phenotypic Series 56 PS252010
MeSH 43 D028361

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 22

UniProtKB/Swiss-Prot : 73 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 mitochondrial complex 1 deficiency, nuclear type 22. 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 hypertrophic cardiomyopathy

More information from OMIM: 618243 PS252010

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 hypertrophic cardiomyopathy 31 HP:0001639
3 intrauterine growth retardation 31 HP:0001511
4 respiratory insufficiency 31 HP:0002093
5 poor head control 31 HP:0002421
6 lactic acidosis 31 HP:0003128
7 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
hypertrophic cardiomyopathy

Respiratory:
respiratory insufficiency

Metabolic Features:
lactic acidosis

Cardiovascular Vascular:
pulmonary hypertension

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

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 1 Deficiency, Nuclear Type 22 29 NDUFA10

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 22

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

40
Liver

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 22

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

# Title Authors PMID Year
1
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 56 6
26741492 2016
2
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 56 6
21150889 2011

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 22

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDUFA10 NM_004544.4(NDUFA10):c.1A>G (p.Met1Val)SNV Pathogenic 30392 rs387906872 2:240964718-240964718 2:240025301-240025301
2 NDUFA10 NM_004544.4(NDUFA10):c.425A>G (p.Gln142Arg)SNV Pathogenic 30393 rs387906873 2:240960649-240960649 2:240021232-240021232
3 NDUFA10 NM_004544.4(NDUFA10):c.881T>C (p.Leu294Pro)SNV Pathogenic 372194 rs1057519414 2:240944636-240944636 2:240005219-240005219
4 NDUFA10 NM_004544.4(NDUFA10):c.384_385insAAT (p.Tyr129_Arg130insAsn)insertion Pathogenic 372195 rs1057519415 2:240960689-240960690 2:240021272-240021273
5 NDUFA10 NM_004544.4(NDUFA10):c.604dup (p.His202fs)duplication Uncertain significance 632354 rs746019378 2:240954220-240954221 2:240014803-240014804

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

73
# Symbol AA change Variation ID SNP ID
1 NDUFA10 p.Gln142Arg VAR_078937 rs387906873

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
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18 ExPASy
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28 GO
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30 HMDB
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32 ICD10
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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