MCID: MTC156
MIFTS: 8

Mitochondrial Complex I Deficiency, Nuclear Type 8

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 6
Mc1dn8 58

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

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 8

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).

Description from OMIM: 618230

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 8

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

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

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 8

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 8

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 8

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
Content
Loading form....