MC1DN8
MCID: MTC156
MIFTS: 16

Mitochondrial Complex I Deficiency, Nuclear Type 8 (MC1DN8)

Categories: Genetic 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 58 76 30 6
Mc1dn8 58 76

Characteristics:

OMIM:

58
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


Classifications:



External Ids:

OMIM 58 618230
MeSH 45 D028361
MedGen 43 CN257503
SNOMED-CT via HPO 70 81308009 91327001

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 8

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include liver, and related phenotypes are dystonia and increased serum lactate

Description from OMIM: 618230

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:

33
# Description HPO Frequency HPO Source Accession
1 dystonia 33 HP:0001332
2 increased serum lactate 33 HP:0002151
3 encephalopathy 33 HP:0001298
4 tetraparesis 33 HP:0002273

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
increased serum lactate
mitochondrial respiratory complex i deficiency in various tissues

Muscle Soft Tissue:
hypotonia

Respiratory:
respiratory insufficiency (patient a)

Abdomen Gastrointestinal:
dysphagia (patient a)

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

Metabolic Features:
lactic acidosis

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

Abdomen Pancreas:
pancreatitis (patient a)

Skeletal Spine:
kyphoscoliosis (patient a)

Clinical features from OMIM:

618230

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 I Deficiency, Nuclear Type 8 30 NDUFS3

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 8

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 8:

42
Liver

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 8

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

# Title Authors Year
1
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. ( 22499348 )
2012
2
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. ( 14729820 )
2004

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 8

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

76
# Symbol AA change Variation ID SNP ID
1 NDUFS3 p.Thr145Ile VAR_081412 rs28939714
2 NDUFS3 p.Arg199Trp VAR_081413 rs104894270

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFS3 NM_004551.2(NDUFS3): c.434C> T (p.Thr145Ile) single nucleotide variant Pathogenic rs28939714 GRCh37 Chromosome 11, 47603692: 47603692
2 NDUFS3 NM_004551.2(NDUFS3): c.434C> T (p.Thr145Ile) single nucleotide variant Pathogenic rs28939714 GRCh38 Chromosome 11, 47582140: 47582140
3 NDUFS3 NM_004551.2(NDUFS3): c.595C> T (p.Arg199Trp) single nucleotide variant Pathogenic rs104894270 GRCh37 Chromosome 11, 47603988: 47603988
4 NDUFS3 NM_004551.2(NDUFS3): c.595C> T (p.Arg199Trp) single nucleotide variant Pathogenic rs104894270 GRCh38 Chromosome 11, 47582436: 47582436

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
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
43 MedGen
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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