MC1DN25
MCID: MTC171
MIFTS: 20

Mitochondrial Complex I Deficiency, Nuclear Type 25 (MC1DN25)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn25 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 25 29 6
Nuclear Type Mitochondrial Complex I Deficiency 25 12

Characteristics:

OMIM®:

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

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


HPO:

31
mitochondrial complex i deficiency, nuclear type 25:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 25

UniProtKB/Swiss-Prot : 72 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 skeletal muscle, and related phenotypes are failure to thrive and global developmental delay

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous and compound heterozygous mutation in NDUFB3 on chromosome 2q33.1.

More information from OMIM: 618246 PS252010

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 global developmental delay 31 HP:0001263
3 myopathy 31 HP:0003198
4 intrauterine growth retardation 31 HP:0001511
5 nemaline bodies 31 HP:0003798
6 premature birth 31 HP:0001622
7 encephalopathy 31 HP:0001298
8 lactic acidosis 31 HP:0003128
9 feeding difficulties 31 HP:0011968
10 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

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

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 1 Deficiency, Nuclear Type 25 29 NDUFB3

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 25

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

40
Skeletal Muscle

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 25

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

# Title Authors PMID Year
1
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 57 6
22499348 2012
2
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 57 6
22277967 2012

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 25

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFB3 NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) SNV Pathogenic 39836 rs200800978 GRCh37: 2:201950249-201950249
GRCh38: 2:201085526-201085526
2 NDUFB3 NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) SNV Pathogenic 252575 rs142609245 GRCh37: 2:201943669-201943669
GRCh38: 2:201078946-201078946

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

72
# Symbol AA change Variation ID SNP ID
1 NDUFB3 p.Trp22Arg VAR_078939 rs142609245

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
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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