MCID: MTC162
MIFTS: 11

Mitochondrial Complex I Deficiency, Nuclear Type 15

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 15

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 15:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 15 58 6
Mc1dn15 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
neonatal onset
death in infancy may occur


Classifications:



External Ids:

OMIM 58 618237

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 15

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 15, is also known as mc1dn15. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 15 is NDUFAF4 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 4). Affiliated tissues include brain and eye.

Description from OMIM: 618237

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 15

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 15

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
optic atrophy
poor eye contact

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

Head And Neck Ears:
hearing impairment

Metabolic Features:
metabolic acidosis

Cardiovascular Heart:
hypertrophic cardiomyopathy (1 patient)

Neurologic Central Nervous System:
hyperreflexia
spastic tetraplegia
irritability
dystonia
encephalopathy
more
Skeletal Spine:
kyphosis

Muscle Soft Tissue:
myopathy
hypotonia

Skeletal:
joint contractures
limited joint movement

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

Clinical features from OMIM:

618237

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 15

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 15

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 15

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 15

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 15:

42
Brain, Eye

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 15

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 15

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFAF4 NM_014165.4(NDUFAF4): c.7G> C (p.Ala3Pro) single nucleotide variant Uncertain significance rs1554197721 GRCh37 Chromosome 6, 97345671: 97345671
2 NDUFAF4 NM_014165.4(NDUFAF4): c.7G> C (p.Ala3Pro) single nucleotide variant Uncertain significance rs1554197721 GRCh38 Chromosome 6, 96897795: 96897795

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 15

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 15.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 15

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 15

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 15

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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