MC1DN18
MCID: MTC165
MIFTS: 18

Mitochondrial Complex I Deficiency, Nuclear Type 18 (MC1DN18)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 18

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 18:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 18 58 76 30 6
Mc1dn18 58 76

Characteristics:

OMIM:

58
Miscellaneous:
death in infancy
onset at birth
five patients from 3 families have been reported (last curated january 2019)

Inheritance:
autosomal recessive


HPO:

33
mitochondrial complex i deficiency, nuclear type 18:
Clinical modifier death in infancy
Onset and clinical course congenital onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 18

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 18: 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. MC1DN18 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 18, is also known as mc1dn18. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 18 is NDUFAF3 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 3). Affiliated tissues include liver and eye, and related phenotypes are seizures and hyperreflexia

Description from OMIM: 618240

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 18

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 18

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 18:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 hyperreflexia 33 HP:0001347
3 global developmental delay 33 HP:0001263
4 myoclonus 33 HP:0001336
5 respiratory failure 33 HP:0002878
6 poor eye contact 33 HP:0000817

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
hyperreflexia
global developmental delay
myoclonus
tonic movements
more
Respiratory:
respiratory failure
irregular breathing

Abdomen Gastrointestinal:
poor feeding

Muscle Soft Tissue:
hypotonia, axial
hypertonia, limb

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

Metabolic Features:
lactic acidosis

Head And Neck Eyes:
poor eye contact
optic disc atrophy (in some patients)

Head And Neck Head:
macrocephaly (in some patients)

Genitourinary Kidneys:
hydronephrosis (in some patients)

Genitourinary Ureters:
hydroureter (in some patients)

Clinical features from OMIM:

618240

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 18

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 18

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 18

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 18:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 18 30 NDUFAF3

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 18

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 18:

42
Liver, Eye

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 18

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 18:

# Title Authors Year
1
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. ( 19463981 )
2009

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 18

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 18:

76
# Symbol AA change Variation ID SNP ID
1 NDUFAF3 p.Gly77Arg VAR_058491 rs121918134
2 NDUFAF3 p.Arg122Pro VAR_058492 rs121918135
3 NDUFAF3 p.Ala165Val VAR_081425 rs138275059

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFAF3 NM_199074.1(NDUFAF3): c.58G> C (p.Gly20Arg) single nucleotide variant Pathogenic rs121918134 GRCh37 Chromosome 3, 49059930: 49059930
2 NDUFAF3 NM_199074.1(NDUFAF3): c.58G> C (p.Gly20Arg) single nucleotide variant Pathogenic rs121918134 GRCh38 Chromosome 3, 49022497: 49022497
3 NDUFAF3 NM_199074.1(NDUFAF3): c.194G> C (p.Arg65Pro) single nucleotide variant Pathogenic rs121918135 GRCh37 Chromosome 3, 49060336: 49060336
4 NDUFAF3 NM_199074.1(NDUFAF3): c.194G> C (p.Arg65Pro) single nucleotide variant Pathogenic rs121918135 GRCh38 Chromosome 3, 49022903: 49022903
5 NDUFAF3 NM_199069.1(NDUFAF3): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121918136 GRCh37 Chromosome 3, 49059579: 49059579
6 NDUFAF3 NM_199069.1(NDUFAF3): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121918136 GRCh38 Chromosome 3, 49022146: 49022146

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 18

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 18.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 18

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 18

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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47 MGI
50 NCI
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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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