MC1DN8
MCID: MTC156
MIFTS: 21

Mitochondrial Complex I Deficiency, Nuclear Type 8 (MC1DN8)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 8

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 8:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 8 57 72
Mc1dn8 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 8 29 6
Nuclear Type Mitochondrial Complex I Deficiency 8 12

Characteristics:

OMIM®:

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

Miscellaneous:
two unrelated patients with different phenotypes have been reported (last curated january 2019)
patient a had onset of neurologic and multisystemic deterioration at age 9 years, resulting in death in the second decade
patient b had onset before age 3 years


HPO:

31
mitochondrial complex i deficiency, nuclear type 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112081
OMIM® 57 618230
OMIM Phenotypic Series 57 PS252010
MeSH 44 D028361

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 8

UniProtKB/Swiss-Prot : 72 Mitochondrial complex I deficiency, nuclear type 8: 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. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 8, is also known as mc1dn8. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 8 is NDUFS3 (NADH:Ubiquinone Oxidoreductase Core Subunit S3). Related phenotypes are dysphagia and respiratory insufficiency

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFS3 on chromosome 11p11.2.

More information from OMIM: 618230 PS252010

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 8

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 8

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 8:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 dysphagia 31 HP:0002015
2 respiratory insufficiency 31 HP:0002093
3 kyphoscoliosis 31 HP:0002751
4 increased serum lactate 31 HP:0002151
5 dystonia 31 HP:0001332
6 encephalopathy 31 HP:0001298
7 lactic acidosis 31 HP:0003128
8 tetraparesis 31 HP:0002273
9 generalized hypotonia 31 HP:0001290
10 pancreatitis 31 HP:0001733

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
increased serum lactate
mitochondrial respiratory complex i deficiency in various tissues

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
pallor of the optic discs (patient a)

Abdomen Pancreas:
pancreatitis (patient a)

Skeletal Spine:
kyphoscoliosis (patient a)

Metabolic Features:
lactic acidosis

Neurologic Central Nervous System:
dystonia (patient a)
motor deterioration in the first decade (patient a)
encephalopathy (patient b)
tetraparesis (patient a)
white matter abnormalities consistent with leigh syndrome (patient a)

Respiratory:
respiratory insufficiency (patient a)

Abdomen Gastrointestinal:
dysphagia (patient a)

Clinical features from OMIM®:

618230 (Updated 20-May-2021)

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 8

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 8

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 8

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 8:

# Genetic test Affiliating Genes
1 Mitochondrial Complex 1 Deficiency, Nuclear Type 8 29 NDUFS3

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 8

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 8

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 8:

# Title Authors PMID Year
1
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome. 57 6
33097395 2020
2
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 57 6
22499348 2012
3
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 6 57
14729820 2004
4
A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 6
30140060 2018

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 8

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFS3 NM_004551.3(NDUFS3):c.381+6T>C SNV Pathogenic 304996 rs377579231 GRCh37: 11:47602542-47602542
GRCh38: 11:47580990-47580990
2 NDUFS3 NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln) SNV Pathogenic 1064536 GRCh37: 11:47603677-47603677
GRCh38: 11:47582125-47582125
3 NDUFS3 NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) SNV Likely pathogenic 6019 rs28939714 GRCh37: 11:47603692-47603692
GRCh38: 11:47582140-47582140
4 NDUFS3 NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) SNV Likely pathogenic 6020 rs104894270 GRCh37: 11:47603988-47603988
GRCh38: 11:47582436-47582436
5 NDUFS3 NM_004551.3(NDUFS3):c.418C>T (p.Arg140Trp) SNV Uncertain significance 638291 rs142248674 GRCh37: 11:47603676-47603676
GRCh38: 11:47582124-47582124
6 NDUFS3 NM_004551.3(NDUFS3):c.406C>T (p.Arg136Cys) SNV Uncertain significance 1030815 GRCh37: 11:47603664-47603664
GRCh38: 11:47582112-47582112
7 NDUFS3 NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) SNV Benign 138490 rs77113494 GRCh37: 11:47603984-47603984
GRCh38: 11:47582432-47582432

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 8:

72
# Symbol AA change Variation ID SNP ID
1 NDUFS3 p.Thr145Ile VAR_081412 rs28939714
2 NDUFS3 p.Arg199Trp VAR_081413 rs104894270

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 8

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 8.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 8

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 8

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 8

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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