MC1DN9
MCID: MTC157
MIFTS: 17

Mitochondrial Complex I Deficiency, Nuclear Type 9 (MC1DN9)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 9

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 9:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 9 58 76 30 6
Mc1dn9 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
death in early infancy
onset soon after birth


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 9

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 9: 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. MC1DN9 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 9, is also known as mc1dn9. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 9 is NDUFS6 (NADH:Ubiquinone Oxidoreductase Subunit S6). Affiliated tissues include liver and eye, and related phenotypes are seizures and nystagmus

Description from OMIM: 618232

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 9

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 9

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 9:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 nystagmus 33 HP:0000639
3 lethargy 33 HP:0001254
4 encephalopathy 33 HP:0001298
5 breathing dysregulation 33 HP:0005957
6 hypoventilation 33 HP:0002791

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
roving eye movements

Neurologic Central Nervous System:
lethargy
encephalopathy
seizures (in some patients)
few or absent spontaneous movements
poor reflexes

Abdomen Gastrointestinal:
poor feeding

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

Metabolic Features:
lactic acidosis

Respiratory:
hypoventilation
abnormal breathing

Muscle Soft Tissue:
hypotonia, severe

Clinical features from OMIM:

618232

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 9

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 9

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 9

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 9:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 9 30 NDUFS6

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 9

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 9:

42
Liver, Eye

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 9

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 9:

# Title Authors Year
1
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. ( 19259137 )
2009
2
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. ( 15372108 )
2004

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 9

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 9:

76
# Symbol AA change Variation ID SNP ID
1 NDUFS6 p.Cys115Tyr VAR_078947 rs267606913

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFS6 NM_004553.4(NDUFS6): c.186+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 5, 1802490: 1802490
2 NDUFS6 NM_004553.4(NDUFS6): c.186+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 5, 1802376: 1802376
3 NDUFS6 NG_013354.1: g.16053_20227del4175 deletion Pathogenic GRCh38 Chromosome 5, 1812434: 1816608
4 NDUFS6 NG_013354.1: g.16053_20227del4175 deletion Pathogenic GRCh37 Chromosome 5, 1812548: 1816722
5 NDUFS6 NM_004553.4(NDUFS6): c.344G> A (p.Cys115Tyr) single nucleotide variant Pathogenic rs267606913 GRCh37 Chromosome 5, 1815999: 1815999
6 NDUFS6 NM_004553.4(NDUFS6): c.344G> A (p.Cys115Tyr) single nucleotide variant Pathogenic rs267606913 GRCh38 Chromosome 5, 1815885: 1815885

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 9

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 9.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 9

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 9

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 9

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
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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
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