MC1DN24
MCID: MTC170
MIFTS: 13

Mitochondrial Complex I Deficiency, Nuclear Type 24 (MC1DN24)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 24

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 24:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 24 58 76 30 6
Mc1dn24 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
one family has been reported (last curated january 2019)


HPO:

33
mitochondrial complex i deficiency, nuclear type 24:
Onset and clinical course infantile onset progressive


Classifications:



External Ids:

OMIM 58 618245
MeSH 45 D028361
MedGen 43 CN257522
SNOMED-CT via HPO 70 252157006 255314001

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 24

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 24: 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. MC1DN24 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 24, is also known as mc1dn24. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 24 is NDUFB9 (NADH:Ubiquinone Oxidoreductase Subunit B9). Affiliated tissues include liver, and related phenotype is increased serum lactate.

Description from OMIM: 618245

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 24

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 24

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 24:

33
# Description HPO Frequency HPO Source Accession
1 increased serum lactate 33 HP:0002151

Symptoms via clinical synopsis from OMIM:

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

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

618245

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 24

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 24

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 24

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 24:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 24 30 NDUFB9

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 24

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 24:

42
Liver

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 24

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 24:

# Title Authors Year
1
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. ( 22200994 )
2012

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 24

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 24:

76
# Symbol AA change Variation ID SNP ID
1 NDUFB9 p.Leu64Pro VAR_081460 rs776388520

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 24:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFB9 NM_005005.2(NDUFB9): c.191T> C (p.Leu64Pro) single nucleotide variant Pathogenic rs776388520 GRCh37 Chromosome 8, 125555417: 125555417
2 NDUFB9 NM_005005.2(NDUFB9): c.191T> C (p.Leu64Pro) single nucleotide variant Pathogenic rs776388520 GRCh38 Chromosome 8, 124543176: 124543176

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 24

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 24.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 24

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 24

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 24

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....