MCID: MTC178
MIFTS: 9

Mitochondrial Complex I Deficiency, Nuclear Type 33

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 33

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 33:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 33 58 6
Mc1dn33 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
early death may occur
onset in the first days, months, or years
symptoms may be aggravated by concurrent infection


Classifications:



External Ids:

OMIM 58 618253

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 33

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 33, is also known as mc1dn33. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 33 is NDUFA6 (NADH:Ubiquinone Oxidoreductase Subunit A6).

Description from OMIM: 618253

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 33

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 33

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
global developmental delay
cerebellar hypoplasia
encephalopathy
poor speech
more
Respiratory:
respiratory insufficiency

Growth Other:
intrauterine growth retardation

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
dysphagia
tube feeding

Metabolic Features:
hypoglycemia
metabolic acidosis

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

Head And Neck Eyes:
optic atrophy (in some patients)

Clinical features from OMIM:

618253

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 33

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 33

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 33

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 33

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 33

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 33

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 33:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFA6 NM_002490.5(NDUFA6): c.331_332del (p.Glu137Serfs) deletion Pathogenic GRCh38 Chromosome 22, 42086238: 42086239
2 NDUFA6 NM_002490.5(NDUFA6): c.331_332del (p.Glu137Serfs) deletion Pathogenic GRCh37 Chromosome 22, 42482242: 42482243
3 NDUFA6 NM_002490.5(NDUFA6): c.265G> T (p.Glu89Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 42086305: 42086305
4 NDUFA6 NM_002490.5(NDUFA6): c.265G> T (p.Glu89Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 42482309: 42482309
5 NDUFA6 NM_002490.5(NDUFA6): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 42483128: 42483128
6 NDUFA6 NM_002490.5(NDUFA6): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 42087124: 42087124
7 NDUFA6 NM_002490.5(NDUFA6): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 42090742: 42090742
8 NDUFA6 NM_002490.5(NDUFA6): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 42486746: 42486746
9 NDUFA6 NM_002490.5(NDUFA6): c.355del (p.Leu119Tyrfs) deletion Pathogenic GRCh37 Chromosome 22, 42482219: 42482219
10 NDUFA6 NM_002490.5(NDUFA6): c.355del (p.Leu119Tyrfs) deletion Pathogenic GRCh38 Chromosome 22, 42086215: 42086215
11 NDUFA6 NM_002490.5(NDUFA6): c.309del (p.Met104Cysfs) deletion Pathogenic GRCh37 Chromosome 22, 42482265: 42482265
12 NDUFA6 NM_002490.5(NDUFA6): c.309del (p.Met104Cysfs) deletion Pathogenic GRCh38 Chromosome 22, 42086261: 42086261

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 33

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 33.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 33

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 33

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 33

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
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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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