MC1DN25
MCID: MTC171
MIFTS: 17

Mitochondrial Complex I Deficiency, Nuclear Type 25 (MC1DN25)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 25

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 25:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 25 58 76 30 6
Mc1dn25 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
early death may occur
two unrelated patients have been reported (last curated january 2019)
onset in utero or infancy


Classifications:



External Ids:

OMIM 58 618246
MeSH 45 D028361
MedGen 43 CN257523

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 25

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 25: 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. MC1DN25 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 25, is also known as mc1dn25. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 25 is NDUFB3 (NADH:Ubiquinone Oxidoreductase Subunit B3). Affiliated tissues include liver and skeletal muscle, and related phenotypes are failure to thrive and global developmental delay

Description from OMIM: 618246

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 25

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 25

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 25:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 global developmental delay 33 HP:0001263
3 myopathy 33 HP:0003198
4 intrauterine growth retardation 33 HP:0001511
5 nemaline bodies 33 HP:0003798
6 generalized hypotonia 33 HP:0001290
7 encephalopathy 33 HP:0001298

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive
intrauterine growth retardation

Muscle Soft Tissue:
myopathy
hypotonia
nemaline rods
variation in fiber size and shape seen on skeletal muscle biopsy

Prenatal Manifestations Delivery:
premature delivery

Laboratory Abnormalities:
mitochondrial complex i deficiency in various tissues

Neurologic Central Nervous System:
global developmental delay
encephalopathy

Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
poor feeding

Clinical features from OMIM:

618246

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 25

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 25

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 25

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 25:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 25 30 NDUFB3

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 25

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 25:

42
Liver, Skeletal Muscle

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 25

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 25:

# Title Authors Year
1
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. ( 22499348 )
2012
2
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. ( 22277967 )
2012

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 25

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 25:

76
# Symbol AA change Variation ID SNP ID
1 NDUFB3 p.Trp22Arg VAR_078939 rs142609245

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 25:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFB3 NM_002491.2(NDUFB3): c.208G> T (p.Gly70Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200800978 GRCh37 Chromosome 2, 201950249: 201950249
2 NDUFB3 NM_002491.2(NDUFB3): c.208G> T (p.Gly70Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200800978 GRCh38 Chromosome 2, 201085526: 201085526
3 NDUFB3 NM_001257102.1(NDUFB3): c.64T> C (p.Trp22Arg) single nucleotide variant Pathogenic/Likely pathogenic rs142609245 GRCh38 Chromosome 2, 201078946: 201078946
4 NDUFB3 NM_001257102.1(NDUFB3): c.64T> C (p.Trp22Arg) single nucleotide variant Pathogenic/Likely pathogenic rs142609245 GRCh37 Chromosome 2, 201943669: 201943669

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 25

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 25.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 25

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 25

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 25

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
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45 MeSH
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47 MGI
50 NCI
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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
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