MC1DN17
MCID: MTC164
MIFTS: 24

Mitochondrial Complex I Deficiency, Nuclear Type 17 (MC1DN17)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn17 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 17 29 6
Nuclear Type Mitochondrial Complex I Deficiency 17 12

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
onset in infancy or early childhood


HPO:

31
mitochondrial complex i deficiency, nuclear type 17:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 17

UniProtKB/Swiss-Prot : 72 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 skeletal muscle, and related phenotypes are developmental regression and seizure

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFAF6 on chromosome 8q22.1.

More information from OMIM: 618239 PS252010

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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 developmental regression 31 very rare (1%) HP:0002376
2 seizure 31 very rare (1%) HP:0001250
3 scoliosis 31 HP:0002650
4 ataxia 31 HP:0001251
5 dysarthria 31 HP:0001260
6 gait disturbance 31 HP:0001288
7 global developmental delay 31 HP:0001263
8 pes planus 31 HP:0001763
9 skeletal muscle atrophy 31 HP:0003202
10 increased serum lactate 31 HP:0002151
11 dystonia 31 HP:0001332
12 lactic acidosis 31 HP:0003128
13 rigidity 31 HP:0002063
14 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

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

Muscle Soft Tissue:
hypotonia
muscle atrophy

Neurologic Central Nervous System:
ataxia
dysarthria
dystonia
rigidity
developmental delay
more
Metabolic Features:
lactic acidosis

Skeletal Feet:
flat feet

Clinical features from OMIM®:

618239 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 17 29 NDUFAF6

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 17

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

40
Skeletal Muscle

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 17

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

# Title Authors PMID Year
1
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome. 6 57
33097395 2020
2
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis. 6 57
29531337 2018
3
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene. 6 57
27623250 2016
4
A mitochondrial protein compendium elucidates complex I disease biology. 57 6
18614015 2008
5
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood. 57
30642748 2019
6
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 57
26741492 2016
7
Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. 6
22019594 2011

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 Name Type Significance ClinVarId dbSNP ID Position
1 NDUFAF6 NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) SNV Pathogenic 547 rs137853184 GRCh37: 8:96044321-96044321
GRCh38: 8:95032093-95032093
2 NDUFAF6 NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly) SNV Pathogenic 372259 rs1057519086 GRCh37: 8:96064405-96064405
GRCh38: 8:95052177-95052177
3 NDUFAF6 NM_152416.4(NDUFAF6):c.226T>C (p.Ser76Pro) SNV Pathogenic 372256 rs1057519084 GRCh37: 8:96044251-96044251
GRCh38: 8:95032023-95032023
4 NDUFAF6 NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) SNV Pathogenic 214212 rs201732170 GRCh37: 8:96047755-96047755
GRCh38: 8:95035527-95035527
5 NDUFAF6 NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) SNV Pathogenic 372254 rs201088736 GRCh37: 8:96057827-96057827
GRCh38: 8:95045599-95045599
6 NDUFAF6 NM_152416.4(NDUFAF6):c.805C>G (p.His269Asp) SNV Pathogenic 372255 rs768273248 GRCh37: 8:96060775-96060775
GRCh38: 8:95048547-95048547
7 NDUFAF6 NM_152416.4(NDUFAF6):c.206A>T (p.Asp69Val) SNV Pathogenic 372258 rs1057519085 GRCh37: 8:96044231-96044231
GRCh38: 8:95032003-95032003
8 NDUFAF6 NM_152416.4(NDUFAF6):c.420+784C>T SNV Pathogenic 929495 GRCh37: 8:96048588-96048588
GRCh38: 8:95036360-95036360
9 NDUFAF6 NM_152416.4(NDUFAF6):c.555_559del (p.Tyr187fs) Deletion Pathogenic 929496 GRCh37: 8:96057849-96057853
GRCh38: 8:95045621-95045625
10 NDUFAF6 NM_152416.4(NDUFAF6):c.420+2_420+3insTA Insertion Pathogenic 1064539 GRCh37: 8:96047806-96047807
GRCh38: 8:95035578-95035579
11 NDUFAF6 NM_152416.4(NDUFAF6):c.485del (p.Asn162fs) Deletion Pathogenic 1064697 GRCh37: 8:96057774-96057774
GRCh38: 8:95045546-95045546
12 NDUFAF6 NM_152416.4(NDUFAF6):c.420+1_420+2dup Duplication Likely pathogenic 1029199 GRCh37: 8:96047804-96047805
GRCh38: 8:95035576-95035577
13 NDUFAF6 NM_152416.4(NDUFAF6):c.743G>A (p.Arg248Gln) SNV Uncertain significance 931255 GRCh37: 8:96060713-96060713
GRCh38: 8:95048485-95048485
14 NDUFAF6 NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) SNV Likely benign 136605 rs61743028 GRCh37: 8:96064423-96064423
GRCh38: 8:95052195-95052195

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

72
# 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

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

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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