MC1DN15
MCID: MTC162
MIFTS: 23

Mitochondrial Complex I Deficiency, Nuclear Type 15 (MC1DN15)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn15 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 15 29 6
Nuclear Type Mitochondrial Complex I Deficiency 15 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
neonatal onset
death in infancy may occur

Inheritance:
autosomal recessive


HPO:

31
mitochondrial complex i deficiency, nuclear type 15:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 15

UniProtKB/Swiss-Prot : 72 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 eye and brain, and related phenotypes are hypertrophic cardiomyopathy and seizure

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFAF4 on chromosome 6q16.1.

More information from OMIM: 618237 PS252010

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:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
2 seizure 31 very rare (1%) HP:0001250
3 hyperreflexia 31 HP:0001347
4 failure to thrive 31 HP:0001508
5 nystagmus 31 HP:0000639
6 kyphosis 31 HP:0002808
7 hearing impairment 31 HP:0000365
8 optic atrophy 31 HP:0000648
9 flexion contracture 31 HP:0001371
10 myopathy 31 HP:0003198
11 spastic tetraplegia 31 HP:0002510
12 intrauterine growth retardation 31 HP:0001511
13 irritability 31 HP:0000737
14 dystonia 31 HP:0001332
15 poor eye contact 31 HP:0000817
16 encephalopathy 31 HP:0001298
17 metabolic acidosis 31 HP:0001942
18 generalized hypotonia 31 HP:0001290
19 peripheral demyelination 31 HP:0011096

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
spastic tetraplegia
irritability
dystonia
encephalopathy
more
Head And Neck Eyes:
nystagmus
optic atrophy
poor eye contact

Head And Neck Ears:
hearing impairment

Metabolic Features:
metabolic acidosis

Cardiovascular Heart:
hypertrophic cardiomyopathy (1 patient)

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

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 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 15 29 NDUFAF4

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 15

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

40
Eye, Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 15

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

# Title Authors PMID Year
1
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect. 6 57
28853723 2017
2
C6ORF66 is an assembly factor of mitochondrial complex I. 57
18179882 2008

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 15

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFAF4 NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro) SNV Likely pathogenic 499267 rs1554197721 GRCh37: 6:97345671-97345671
GRCh38: 6:96897795-96897795
2 NDUFAF4 NM_014165.4(NDUFAF4):c.83C>G (p.Ser28Cys) SNV Uncertain significance 1029250 GRCh37: 6:97345595-97345595
GRCh38: 6:96897719-96897719
3 NDUFAF4 NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile) SNV Benign 376856 rs145392673 GRCh37: 6:97345638-97345638
GRCh38: 6:96897762-96897762

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

72
# Symbol AA change Variation ID SNP ID
1 NDUFAF4 p.Leu65Pro VAR_044329 rs63751061
2 NDUFAF4 p.Ala3Pro VAR_081426 rs155419772

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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