MC1DN14
MCID: MTC161
MIFTS: 19

Mitochondrial Complex I Deficiency, Nuclear Type 14 (MC1DN14)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 14

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 14:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 14 57 72
Mc1dn14 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 14 29 6
Nuclear Type Mitochondrial Complex I Deficiency 14 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
early infantile death may occur


HPO:

31
mitochondrial complex i deficiency, nuclear type 14:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 14

UniProtKB/Swiss-Prot : 72 Mitochondrial complex I deficiency, nuclear type 14: 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. MC1DN14 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 14, is also known as mc1dn14. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 14 is NDUFA11 (NADH:Ubiquinone Oxidoreductase Subunit A11). Affiliated tissues include 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 NDUFA11 on chromosome 19p13.3.

More information from OMIM: 618236 PS252010

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 14

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 14

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 14:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
2 seizure 31 very rare (1%) HP:0001250
3 nystagmus 31 HP:0000639
4 optic atrophy 31 HP:0000648
5 myopathy 31 HP:0003198
6 increased serum lactate 31 HP:0002151
7 apnea 31 HP:0002104
8 encephalopathy 31 HP:0001298
9 lactic acidosis 31 HP:0003128
10 postnatal microcephaly 31 HP:0005484
11 generalized hypotonia 31 HP:0001290
12 brain atrophy 31 HP:0012444

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
optic atrophy
poor visual fixation

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

Neurologic Central Nervous System:
encephalopathy
brain atrophy
seizures (in some patients)
poor or absent global development
lack of purposeful movements
more
Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

Muscle Soft Tissue:
myopathy
hypotonia

Respiratory:
apnea

Metabolic Features:
lactic acidosis

Head And Neck Head:
microcephaly, acquired

Clinical features from OMIM®:

618236 (Updated 20-May-2021)

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 14

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 14

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 14

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 14:

# Genetic test Affiliating Genes
1 Mitochondrial Complex 1 Deficiency, Nuclear Type 14 29 NDUFA11

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 14

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 14:

40
Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 14

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 14:

# Title Authors PMID Year
1
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. 57 6
18306244 2008

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 14

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 14:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFA11 NM_175614.5(NDUFA11):c.97+5G>A SNV Pathogenic 449316 rs1348957889 GRCh37: 19:5903618-5903618
GRCh38: 19:5903607-5903607
2 NDUFA11 NM_175614.5(NDUFA11):c.362C>T (p.Ala121Val) SNV Uncertain significance 1029292 GRCh37: 19:5894817-5894817
GRCh38: 19:5894806-5894806

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 14

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 14.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 14

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 14

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 14

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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