MCID: MTC165
MIFTS: 10

Mitochondrial Complex I Deficiency, Nuclear Type 18

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 6
Mc1dn18 58

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


Classifications:



External Ids:

OMIM 58 618240

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 18

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 eye.

Description from OMIM: 618240

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 18

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

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

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 18

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

42
Eye

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 18

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 18

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
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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47 MGI
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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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