MCID: MTC168
MIFTS: 8

Mitochondrial Complex I Deficiency, Nuclear Type 22

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 6
Mc1dn22 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618243

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 22

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).

Description from OMIM: 618243

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 22

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

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

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 22

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 22

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 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
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
Content
Loading form....