MC1DN15
MCID: MTC162
MIFTS: 19

Mitochondrial Complex I Deficiency, Nuclear Type 15 (MC1DN15)

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 76 30 6
Mc1dn15 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
neonatal onset
death in infancy may occur


HPO:

33
mitochondrial complex i deficiency, nuclear type 15:
Onset and clinical course neonatal onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 15

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 15: 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. MC1DN15 transmission pattern is consistent with autosomal recessive inheritance.

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 liver, eye and brain, and related phenotypes are seizures and nystagmus

Description from OMIM: 618237

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 15

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

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 15:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 nystagmus 33 HP:0000639
3 hyperreflexia 33 HP:0001347
4 failure to thrive 33 HP:0001508
5 optic atrophy 33 HP:0000648
6 flexion contracture 33 HP:0001371
7 myopathy 33 HP:0003198
8 spastic tetraplegia 33 HP:0002510
9 irritability 33 HP:0000737
10 intrauterine growth retardation 33 HP:0001511
11 dystonia 33 HP:0001332
12 generalized hypotonia 33 HP:0001290
13 encephalopathy 33 HP:0001298
14 peripheral demyelination 33 HP:0011096
15 poor eye contact 33 HP:0000817

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

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 15:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 15 30 NDUFAF4

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 15

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

42
Liver, Eye, Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 15

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 15:

# Title Authors Year
1
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect. ( 28853723 )
2017

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 15

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 15:

76
# Symbol AA change Variation ID SNP ID
1 NDUFAF4 p.Leu65Pro VAR_044329 rs63751061
2 NDUFAF4 p.Ala3Pro VAR_081426

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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