MC1DN33
MCID: MTC178
MIFTS: 16

Mitochondrial Complex I Deficiency, Nuclear Type 33 (MC1DN33)

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 76 6
Mc1dn33 58 76

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:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 33

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 33: 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. MC1DN33 transmission pattern is consistent with autosomal recessive inheritance.

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). Affiliated tissues include liver, and related phenotypes are abnormality of the cerebral white matter and spasticity

Description from OMIM: 618253

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 33

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

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 33:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 abnormality of the cerebral white matter 33 very rare (1%) HP:0002500
2 spasticity 33 HP:0001257
3 dysphagia 33 HP:0002015
4 global developmental delay 33 HP:0001263
5 hypoglycemia 33 HP:0001943
6 ventriculomegaly 33 HP:0002119
7 cerebellar hypoplasia 33 HP:0001321
8 hyperammonemia 33 HP:0001987
9 metabolic acidosis 33 HP:0001942
10 encephalopathy 33 HP:0001298
11 poor speech 33 HP:0002465
12 mutism 33 HP:0002300
13 progressive neurologic deterioration 33 HP:0002344

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

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 33:

42
Liver

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 33

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 33:

# Title Authors Year
1
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. ( 30245030 )
2018

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 33

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 33:

76
# Symbol AA change Variation ID SNP ID
1 NDUFA6 p.Arg64Pro VAR_081470

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

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