MC1DN22
MCID: MTC168
MIFTS: 18

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 57 74 29 6
Mc1dn22 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mitochondrial complex i deficiency, nuclear type 22:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

MeSH 44 D028361

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 22

UniProtKB/Swiss-Prot : 74 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 respiratory insufficiency and global developmental delay

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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 32 HP:0002093
2 global developmental delay 32 HP:0001263
3 hypertrophic cardiomyopathy 32 HP:0001639
4 generalized hypotonia 32 HP:0001290
5 intrauterine growth retardation 32 HP:0001511
6 lactic acidosis 32 HP:0003128
7 poor head control 32 HP:0002421

Symptoms via clinical synopsis from OMIM:

57
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 29 NDUFA10

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 22

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

41
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. 8 71
26741492 2016
2
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 8 71
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NDUFA10 NM_004544.4(NDUFA10): c.881T> C (p.Leu294Pro) single nucleotide variant Pathogenic rs1057519414 2:240944636-240944636 2:240005219-240005219
2 NDUFA10 NM_004544.4(NDUFA10): c.384_385insAAT (p.Tyr129_Arg130insAsn) insertion Pathogenic rs1057519415 2:240960689-240960690 2:240021272-240021273
3 NDUFA10 NM_004544.4(NDUFA10): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs387906872 2:240964718-240964718 2:240025301-240025301
4 NDUFA10 NM_004544.4(NDUFA10): c.425A> G (p.Gln142Arg) single nucleotide variant Pathogenic rs387906873 2:240960649-240960649 2:240021232-240021232
5 NDUFA10 NM_004544.4(NDUFA10): c.604dup (p.His202fs) duplication Uncertain significance 2:240954220-240954220 2:240014810-240014810

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

74
# 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....