MC1DN17
MCID: MTC164
MIFTS: 20

Mitochondrial Complex I Deficiency, Nuclear Type 17 (MC1DN17)

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 76 30 6
Mc1dn17 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in infancy or early childhood


HPO:

33
mitochondrial complex i deficiency, nuclear type 17:
Onset and clinical course variable expressivity


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 17

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 17: 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. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance.

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). Affiliated tissues include liver and skeletal muscle, and related phenotypes are seizures and developmental regression

Description from OMIM: 618239

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 17

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

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 17:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 developmental regression 33 very rare (1%) HP:0002376
3 ataxia 33 HP:0001251
4 dysarthria 33 HP:0001260
5 gait disturbance 33 HP:0001288
6 global developmental delay 33 HP:0001263
7 skeletal muscle atrophy 33 HP:0003202
8 dystonia 33 HP:0001332
9 increased serum lactate 33 HP:0002151
10 rigidity 33 HP:0002063
11 generalized hypotonia 33 HP:0001290

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

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 17:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 17 30 NDUFAF6

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 17

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 17:

42
Liver, Skeletal Muscle

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 17

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 17:

# Title Authors Year
1
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. ( 26741492 )
2016
2
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene. ( 27623250 )
2016
3
Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. ( 22019594 )
2011
4
A mitochondrial protein compendium elucidates complex I disease biology. ( 18614015 )
2008

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 17

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 17:

76
# Symbol AA change Variation ID SNP ID
1 NDUFAF6 p.Gln99Arg VAR_047770 rs137853184
2 NDUFAF6 p.Asp69Val VAR_076272 rs105751908
3 NDUFAF6 p.Ser76Pro VAR_076273 rs105751908
4 NDUFAF6 p.Ile124Thr VAR_076274 rs201732170
5 NDUFAF6 p.His269Asp VAR_076275 rs768273248
6 NDUFAF6 p.Arg274Gly VAR_076276 rs105751908

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.296A> G (p.Gln99Arg) single nucleotide variant Pathogenic rs137853184 GRCh37 Chromosome 8, 96044321: 96044321
2 NDUFAF6 NM_152416.3(NDUFAF6): c.296A> G (p.Gln99Arg) single nucleotide variant Pathogenic rs137853184 GRCh38 Chromosome 8, 95032093: 95032093
3 NDUFAF6 NM_152416.3(NDUFAF6): c.371T> C (p.Ile124Thr) single nucleotide variant Uncertain significance rs201732170 GRCh38 Chromosome 8, 95035527: 95035527
4 NDUFAF6 NM_152416.3(NDUFAF6): c.371T> C (p.Ile124Thr) single nucleotide variant Uncertain significance rs201732170 GRCh37 Chromosome 8, 96047755: 96047755
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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