MCID: MTC172
MIFTS: 9

Mitochondrial Complex I Deficiency, Nuclear Type 26

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 6
Mc1dn26 58

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:



External Ids:

OMIM 58 618247

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 26

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).

Description from OMIM: 618247

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 26

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

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

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 26

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 26

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 26

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
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
Content
Loading form....