MC1DN14
MCID: MTC161
MIFTS: 16

Mitochondrial Complex I Deficiency, Nuclear Type 14 (MC1DN14)

Categories: Genetic 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 58 76 30 6
Mc1dn14 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
early infantile death may occur


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 14

UniProtKB/Swiss-Prot : 76 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 liver and brain, and related phenotypes are seizures and brain atrophy

Description from OMIM: 618236

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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 brain atrophy 33 HP:0012444
3 nystagmus 33 HP:0000639
4 optic atrophy 33 HP:0000648
5 myopathy 33 HP:0003198
6 increased serum lactate 33 HP:0002151
7 generalized hypotonia 33 HP:0001290
8 encephalopathy 33 HP:0001298

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
brain atrophy
encephalopathy
seizures (in some patients)
poor or absent global development
lack of purposeful movements
more
Muscle Soft Tissue:
myopathy
hypotonia

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

Head And Neck Head:
microcephaly, acquired

Head And Neck Eyes:
nystagmus
optic atrophy
poor visual fixation

Respiratory:
apnea

Metabolic Features:
lactic acidosis

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

Clinical features from OMIM:

618236

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 I Deficiency, Nuclear Type 14 30 NDUFA11

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 14

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

42
Liver, Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 14

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

# Title Authors Year
1
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. ( 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 Variation Type Significance SNP ID Assembly Location
1 NDUFA11 NM_175614.4(NDUFA11): c.97+5G> A single nucleotide variant Pathogenic rs1348957889 GRCh37 Chromosome 19, 5903618: 5903618
2 NDUFA11 NM_175614.4(NDUFA11): c.97+5G> A single nucleotide variant Pathogenic rs1348957889 GRCh38 Chromosome 19, 5903607: 5903607

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
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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