MC1DN24
MCID: MTC170
MIFTS: 17

Mitochondrial Complex I Deficiency, Nuclear Type 24 (MC1DN24)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn24 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 24 29 6
Nuclear Type Mitochondrial Complex I Deficiency 24 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mitochondrial complex i deficiency, nuclear type 24:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0112079
OMIM® 57 618245
OMIM Phenotypic Series 57 PS252010
MeSH 44 D028361
SNOMED-CT via HPO 68 252157006 255314001 258211005

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 24

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are increased serum lactate and generalized hypotonia

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFB9 on chromosome 8q24.13.

More information from OMIM: 618245 PS252010

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:

31
# Description HPO Frequency HPO Source Accession
1 increased serum lactate 31 HP:0002151
2 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
increased serum lactate
mitochondrial complex i deficiency in various tissues

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

618245 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 24 29 NDUFB9

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 24

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 24

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

# Title Authors PMID Year
1
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 6 57
22200994 2012

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 24

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFB9 NM_005005.3(NDUFB9):c.191T>C (p.Leu64Pro) SNV Pathogenic 65455 rs776388520 GRCh37: 8:125555417-125555417
GRCh38: 8:124543176-124543176
2 NDUFB9 , MTSS1 NM_014751.5(MTSS1):c.1036-28C>T SNV Benign 802438 rs4870903 GRCh37: 8:125570144-125570144
GRCh38: 8:124557903-124557903
3 NDUFB9 , MTSS1 NM_014751.5(MTSS1):c.619-571G>A SNV Benign 802439 rs6470252 GRCh37: 8:125579990-125579990
GRCh38: 8:124567749-124567749

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

72
# Symbol AA change Variation ID SNP ID
1 NDUFB9 p.Leu64Pro VAR_081460 rs776388520

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
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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