MC1DN26
MCID: MTC172
MIFTS: 17

Mitochondrial Complex I Deficiency, Nuclear Type 26 (MC1DN26)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 26

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 26:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 26 58 76 30 6
Mc1dn26 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients with different phenotypes have been reported (last curated january 2019)
patient a had a severe phenotype with onset soon after birth and death at 1 month of age
patient b had onset at age 7 years, had a progressive course, and was stable in his forties


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 26

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 26: 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. MC1DN26 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 26, is also known as mc1dn26. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 26 is NDUFA9 (NADH:Ubiquinone Oxidoreductase Subunit A9). Affiliated tissues include liver, and related phenotypes are dysarthria and eeg abnormality

Description from OMIM: 618247

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 26

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 26

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 26:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 eeg abnormality 33 HP:0002353
3 dystonia 33 HP:0001332
4 increased serum lactate 33 HP:0002151
5 hyporeflexia 33 HP:0001265
6 choreoathetosis 33 HP:0001266
7 cerebellar atrophy 33 HP:0001272
8 cerebral atrophy 33 HP:0002059
9 distal amyotrophy 33 HP:0003693
10 limb hypertonia 33 HP:0002509

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
increased serum lactate
mitochondrial complex i deficiency in various tissues

Neurologic Peripheral Nervous System:
hyporeflexia (patient b)
axonal sensorimotor neuropathy (patient b)

Respiratory:
respiratory insufficiency (patient a)

Abdomen Gastrointestinal:
dysphagia (patient b)

Metabolic Features:
metabolic acidosis (patient a)

Neurologic Central Nervous System:
cerebellar atrophy (patient a)
dystonia (patient b)
white matter abnormalities consistent with leigh syndrome
choreoathetosis (patient a)
abnormal eeg (patient a)
more
Head And Neck Eyes:
retinitis pigmentosa (patient a)

Head And Neck Ears:
hearing loss (patient a)

Muscle Soft Tissue:
limb hypertonia (patient a)
distal muscle atrophy (patient b)

Clinical features from OMIM:

618247

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 26

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 26

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 26

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 26:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 26 30 NDUFA9

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 26

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 26:

42
Liver

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 26

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 26:

# Title Authors Year
1
NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. ( 28671271 )
2018
2
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. ( 22114105 )
2012

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 26

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 26:

76
# Symbol AA change Variation ID SNP ID
1 NDUFA9 p.Arg321Pro VAR_078936 rs199592341
2 NDUFA9 p.Arg360Cys VAR_081457 rs3210083

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 26:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFA9 NM_005002.4(NDUFA9): c.962G> C (p.Arg321Pro) single nucleotide variant Pathogenic rs199592341 GRCh37 Chromosome 12, 4794490: 4794490
2 NDUFA9 NM_005002.4(NDUFA9): c.962G> C (p.Arg321Pro) single nucleotide variant Pathogenic rs199592341 GRCh38 Chromosome 12, 4685324: 4685324
3 NDUFA9 NM_005002.4(NDUFA9): c.1078C> T (p.Arg360Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 4687052: 4687052
4 NDUFA9 NM_005002.4(NDUFA9): c.1078C> T (p.Arg360Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 4796218: 4796218

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 26

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 26.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 26

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 26

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 26

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
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35 ICD10 via Orphanet
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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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