MCID: MTC164
MIFTS: 9

Mitochondrial Complex I Deficiency, Nuclear Type 17

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 17

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 17:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 17 58 6
Mc1dn17 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in infancy or early childhood


Classifications:



External Ids:

OMIM 58 618239

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 17

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 17, is also known as mc1dn17. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 17 is NDUFAF6 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6).

Description from OMIM: 618239

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 17

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 17

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
dysarthria
dystonia
rigidity
developmental delay
more
Laboratory Abnormalities:
increased serum lactate
mitochondrial respiratory complex i deficiency in various tissues

Skeletal Feet:
flat feet

Skeletal Spine:
scoliosis

Metabolic Features:
lactic acidosis

Muscle Soft Tissue:
hypotonia
muscle atrophy

Clinical features from OMIM:

618239

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 17

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 17

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 17

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 17

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 17

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 17

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 17:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFAF6 NM_152416.3(NDUFAF6): c.371T> C (p.Ile124Thr) single nucleotide variant Uncertain significance rs201732170 GRCh38 Chromosome 8, 95035527: 95035527
2 NDUFAF6 NM_152416.3(NDUFAF6): c.371T> C (p.Ile124Thr) single nucleotide variant Uncertain significance rs201732170 GRCh37 Chromosome 8, 96047755: 96047755
3 NDUFAF6 NM_152416.3(NDUFAF6): c.296A> G (p.Gln99Arg) single nucleotide variant Pathogenic rs137853184 GRCh37 Chromosome 8, 96044321: 96044321
4 NDUFAF6 NM_152416.3(NDUFAF6): c.296A> G (p.Gln99Arg) single nucleotide variant Pathogenic rs137853184 GRCh38 Chromosome 8, 95032093: 95032093
5 NDUFAF6 NM_152416.3(NDUFAF6): c.532G> C (p.Ala178Pro) single nucleotide variant Pathogenic rs201088736 GRCh37 Chromosome 8, 96057827: 96057827
6 NDUFAF6 NM_152416.3(NDUFAF6): c.532G> C (p.Ala178Pro) single nucleotide variant Pathogenic rs201088736 GRCh38 Chromosome 8, 95045599: 95045599
7 NDUFAF6 NM_152416.3(NDUFAF6): c.805C> G (p.His269Asp) single nucleotide variant Pathogenic rs768273248 GRCh37 Chromosome 8, 96060775: 96060775
8 NDUFAF6 NM_152416.3(NDUFAF6): c.805C> G (p.His269Asp) single nucleotide variant Pathogenic rs768273248 GRCh38 Chromosome 8, 95048547: 95048547
9 NDUFAF6 NM_152416.3(NDUFAF6): c.226T> C (p.Ser76Pro) single nucleotide variant Pathogenic rs1057519084 GRCh37 Chromosome 8, 96044251: 96044251
10 NDUFAF6 NM_152416.3(NDUFAF6): c.226T> C (p.Ser76Pro) single nucleotide variant Pathogenic rs1057519084 GRCh38 Chromosome 8, 95032023: 95032023
11 NDUFAF6 NM_152416.3(NDUFAF6): c.206A> T (p.Asp69Val) single nucleotide variant Pathogenic rs1057519085 GRCh38 Chromosome 8, 95032003: 95032003
12 NDUFAF6 NM_152416.3(NDUFAF6): c.206A> T (p.Asp69Val) single nucleotide variant Pathogenic rs1057519085 GRCh37 Chromosome 8, 96044231: 96044231
13 NDUFAF6 NM_152416.3(NDUFAF6): c.820A> G (p.Arg274Gly) single nucleotide variant Pathogenic rs1057519086 GRCh38 Chromosome 8, 95052177: 95052177
14 NDUFAF6 NM_152416.3(NDUFAF6): c.820A> G (p.Arg274Gly) single nucleotide variant Pathogenic rs1057519086 GRCh37 Chromosome 8, 96064405: 96064405

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 17

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 17.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 17

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 17

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 17

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