MC1DN18
MCID: MTC165
MIFTS: 20

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 56 73 29 6
Mc1dn18 56 73

Characteristics:

OMIM:

56
Miscellaneous:
death in infancy
onset at birth
five patients from 3 families have been reported (last curated january 2019)

Inheritance:
autosomal recessive


HPO:

31
mitochondrial complex i deficiency, nuclear type 18:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 18

UniProtKB/Swiss-Prot : 73 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 macrocephaly and hydronephrosis

More information from OMIM: 618240 PS252010

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 hydronephrosis 31 very rare (1%) HP:0000126
3 hydroureter 31 very rare (1%) HP:0000072
4 seizures 31 HP:0001250
5 hyperreflexia 31 HP:0001347
6 global developmental delay 31 HP:0001263
7 feeding difficulties 31 HP:0011968
8 myoclonus 31 HP:0001336
9 lactic acidosis 31 HP:0003128
10 respiratory failure 31 HP:0002878
11 poor eye contact 31 HP:0000817

Symptoms via clinical synopsis from OMIM:

56
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 29 NDUFAF3

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 18

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

40
Liver, Eye

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 18

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

# Title Authors PMID Year
1
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. 56 6
19463981 2009

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 18

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDUFAF3 NM_199069.2(NDUFAF3):c.229G>C (p.Gly77Arg)SNV Pathogenic 422 rs121918134 3:49059930-49059930 3:49022497-49022497
2 NDUFAF3 NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro)SNV Pathogenic 423 rs121918135 3:49060336-49060336 3:49022903-49022903
3 NDUFAF3 NM_199069.2(NDUFAF3):c.2T>C (p.Met1Thr)SNV Pathogenic 424 rs121918136 3:49059579-49059579 3:49022146-49022146
4 NDUFAF3 NM_199069.2(NDUFAF3):c.494C>T (p.Ala165Val)SNV Likely pathogenic 638292 3:49060544-49060544 3:49023111-49023111

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

73
# 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

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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