MC1DN26
MCID: MTC172
MIFTS: 21

Mitochondrial Complex I Deficiency, Nuclear Type 26 (MC1DN26)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn26 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 26 29 6
Nuclear Type Mitochondrial Complex I Deficiency 26 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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


HPO:

31
mitochondrial complex i deficiency, nuclear type 26:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 26

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are eeg abnormality and dysarthria

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFA9 on chromosome 12p13.32.

More information from OMIM: 618247 PS252010

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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 31 HP:0002353
2 dysarthria 31 HP:0001260
3 dysphagia 31 HP:0002015
4 respiratory insufficiency 31 HP:0002093
5 hearing impairment 31 HP:0000365
6 increased serum lactate 31 HP:0002151
7 dystonia 31 HP:0001332
8 hyporeflexia 31 HP:0001265
9 rod-cone dystrophy 31 HP:0000510
10 cerebellar atrophy 31 HP:0001272
11 metabolic acidosis 31 HP:0001942
12 choreoathetosis 31 HP:0001266
13 cerebral atrophy 31 HP:0002059
14 distal amyotrophy 31 HP:0003693
15 limb hypertonia 31 HP:0002509

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 26 29 NDUFA9

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 26

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 26

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

# Title Authors PMID Year
1
NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. 57 6
28671271 2018
2
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 57 6
22114105 2012

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 26

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFA9 NM_005002.5(NDUFA9):c.962G>C (p.Arg321Pro) SNV Pathogenic 30391 rs199592341 GRCh37: 12:4794490-4794490
GRCh38: 12:4685324-4685324
2 NDUFA9 NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys) SNV Pathogenic 587683 rs3210083 GRCh37: 12:4796218-4796218
GRCh38: 12:4687052-4687052
3 NDUFA9 NM_005002.5(NDUFA9):c.938G>A (p.Trp313Ter) SNV Likely pathogenic 996908 GRCh37: 12:4794466-4794466
GRCh38: 12:4685300-4685300
4 NDUFA9 NM_005002.5(NDUFA9):c.251A>C (p.Tyr84Ser) SNV Uncertain significance 1030867 GRCh37: 12:4764021-4764021
GRCh38: 12:4654855-4654855
5 NDUFA9 NM_005002.5(NDUFA9):c.655+5G>A SNV Uncertain significance 372847 rs768333416 GRCh37: 12:4771806-4771806
GRCh38: 12:4662640-4662640
6 NDUFA9 NM_005002.5(NDUFA9):c.728T>C (p.Val243Ala) SNV Uncertain significance 214714 rs202214518 GRCh37: 12:4778911-4778911
GRCh38: 12:4669745-4669745
7 NDUFA9 NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) SNV Uncertain significance 214722 rs35263902 GRCh37: 12:4763994-4763994
GRCh38: 12:4654828-4654828
8 NDUFA9 NM_005002.5(NDUFA9):c.897-115A>G SNV Uncertain significance 802811 rs185994125 GRCh37: 12:4794310-4794310
GRCh38: 12:4685144-4685144
9 NDUFA9 NM_005002.5(NDUFA9):c.1061G>A (p.Arg354Gln) SNV Uncertain significance 917538 GRCh37: 12:4796201-4796201
GRCh38: 12:4687035-4687035

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

72
# Symbol AA change Variation ID SNP ID
1 NDUFA9 p.Arg321Pro VAR_078936 rs199592341
2 NDUFA9 p.Arg360Cys VAR_081457 rs3210083

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
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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