MCID: MTC163
MIFTS: 10

Mitochondrial Complex I Deficiency, Nuclear Type 16

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 16

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 16:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 16 58 6
Mc1dn16 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or childhood
highly variable phenotype and severity
early death may occur


Classifications:



External Ids:

OMIM 58 618238

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 16

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 16, is also known as mc1dn16. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 16 is NDUFAF5 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5). Affiliated tissues include brain.

Description from OMIM: 618238

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 16

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 16

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
nystagmus
optic atrophy (in some patients)

Growth Other:
failure to thrive
intrauterine growth restriction (iugr)

Metabolic Features:
lactic acidosis

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

Neurologic Central Nervous System:
spasticity
dysarthria
global developmental delay
choreoathetosis
extrapyramidal signs
more
Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

618238

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 16

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 16

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 16

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 16

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 16:

42
Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 16

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 16

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 16:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFAF5 NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro) single nucleotide variant Pathogenic rs118203929 GRCh37 Chromosome 20, 13782298: 13782298
2 NDUFAF5 NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro) single nucleotide variant Pathogenic rs118203929 GRCh38 Chromosome 20, 13801652: 13801652
3 NDUFAF5 NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe) single nucleotide variant Pathogenic rs267606689 GRCh37 Chromosome 20, 13775585: 13775585
4 NDUFAF5 NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe) single nucleotide variant Pathogenic rs267606689 GRCh38 Chromosome 20, 13794939: 13794939
5 NDUFAF5 NM_024120.4(NDUFAF5): c.749G> T (p.Gly250Val) single nucleotide variant Likely pathogenic rs757043077 GRCh37 Chromosome 20, 13789519: 13789519
6 NDUFAF5 NM_024120.4(NDUFAF5): c.749G> T (p.Gly250Val) single nucleotide variant Likely pathogenic rs757043077 GRCh38 Chromosome 20, 13808873: 13808873

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 16

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 16.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 16

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 16

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 16

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
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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