MC1DN9
MCID: MTC157
MIFTS: 21

Mitochondrial Complex I Deficiency, Nuclear Type 9 (MC1DN9)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn9 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 9 29 6
Nuclear Type Mitochondrial Complex I Deficiency 9 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in early infancy
onset soon after birth


HPO:

31
mitochondrial complex i deficiency, nuclear type 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 9

UniProtKB/Swiss-Prot : 72 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 eye, and related phenotypes are seizure and nystagmus

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFS6 on chromosome 5p15.33.

More information from OMIM: 618232 PS252010

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizure 31 very rare (1%) HP:0001250
2 nystagmus 31 HP:0000639
3 severe muscular hypotonia 31 HP:0006829
4 lethargy 31 HP:0001254
5 encephalopathy 31 HP:0001298
6 lactic acidosis 31 HP:0003128
7 feeding difficulties 31 HP:0011968
8 breathing dysregulation 31 HP:0005957
9 hypoventilation 31 HP:0002791

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
roving eye movements

Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
poor feeding

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

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

Respiratory:
hypoventilation
abnormal breathing

Muscle Soft Tissue:
hypotonia, severe

Clinical features from OMIM®:

618232 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 9 29 NDUFS6

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 9

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

40
Eye

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 9

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

# Title Authors PMID Year
1
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. 6 57
19259137 2009
2
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. 6 57
15372108 2004

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 9

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFS6 NM_004553.5(NDUFS6):c.186+2T>A SNV Pathogenic 6016 rs1561102614 GRCh37: 5:1802490-1802490
GRCh38: 5:1802376-1802376
2 NDUFS6 nsv1197507 Deletion Pathogenic 6017 GRCh37: 5:1812546-1816720
GRCh38: 5:1812432-1816606
3 NDUFS6 NM_004553.5(NDUFS6):c.344G>A (p.Cys115Tyr) SNV Pathogenic 6018 rs267606913 GRCh37: 5:1815999-1815999
GRCh38: 5:1815885-1815885
4 NDUFS6 NM_004553.6(NDUFS6):c.80G>A (p.Cys27Tyr) SNV Likely pathogenic 800912 rs1579936916 GRCh37: 5:1801611-1801611
GRCh38: 5:1801497-1801497
5 NDUFS6 NM_004553.6(NDUFS6):c.309+5G>A SNV Likely pathogenic 983268 GRCh37: 5:1814580-1814580
GRCh38: 5:1814466-1814466
6 NDUFS6 NM_004553.5(NDUFS6):c.309+208T>C SNV Benign 683115 rs4147773 GRCh37: 5:1814783-1814783
GRCh38: 5:1814669-1814669
7 NDUFS6 , MRPL36 NM_004553.4(NDUFS6):c.-12C>T SNV Benign 138493 rs145747389 GRCh37: 5:1801520-1801520
GRCh38: 5:1801406-1801406

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

72
# Symbol AA change Variation ID SNP ID
1 NDUFS6 p.Cys115Tyr VAR_078947 rs267606913

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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