MC1DN32
MCID: MTC177
MIFTS: 16

Mitochondrial Complex I Deficiency, Nuclear Type 32 (MC1DN32)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 32

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 32:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 32 58 76 6
Mc1dn32 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
mitochondrial complex i deficiency, nuclear type 32:
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 58 618252
MeSH 45 D028361
MedGen 43 CN257529

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 32

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 32: 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. MC1DN32 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 32, is also known as mc1dn32. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 32 is NDUFB8 (NADH:Ubiquinone Oxidoreductase Subunit B8). Affiliated tissues include liver and brain, and related phenotypes are seizures and increased serum lactate

Description from OMIM: 618252

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 32

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 32

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 32:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 increased serum lactate 33 HP:0002151
3 increased csf lactate 33 HP:0002490

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
white matter abnormalities consistent with leigh syndrome seen on brain imaging
delayed or absent psychomotor development
poor interaction with environment
supratentorial and brainstem atrophy

Respiratory:
respiratory insufficiency

Metabolic Features:
metabolic acidosis

Cardiovascular Heart:
cardiac hypertrophy (1 of 2 patients)

Growth Other:
failure to thrive

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

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

618252

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 32

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 32

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 32

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 32

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 32:

42
Liver, Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 32

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 32:

# Title Authors Year
1
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. ( 29429571 )
2018

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 32

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 32:

76
# Symbol AA change Variation ID SNP ID
1 NDUFB8 p.Tyr62His VAR_081466
2 NDUFB8 p.Pro76Gln VAR_081467
3 NDUFB8 p.Cys144Trp VAR_081469

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 32:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFB8 NM_005004.3(NDUFB8): c.227C> A (p.Pro76Gln) single nucleotide variant Pathogenic rs1239013578 GRCh38 Chromosome 10, 100527060: 100527060
2 NDUFB8 NM_005004.3(NDUFB8): c.227C> A (p.Pro76Gln) single nucleotide variant Pathogenic rs1239013578 GRCh37 Chromosome 10, 102286817: 102286817
3 NDUFB8 NM_005004.3(NDUFB8): c.432C> G (p.Cys144Trp) single nucleotide variant Pathogenic rs1554843251 GRCh38 Chromosome 10, 100526435: 100526435
4 NDUFB8 NM_005004.3(NDUFB8): c.432C> G (p.Cys144Trp) single nucleotide variant Pathogenic rs1554843251 GRCh37 Chromosome 10, 102286192: 102286192
5 NDUFB8 NM_005004.3(NDUFB8): c.189delA (p.Glu63Aspfs) deletion Pathogenic rs1264186261 GRCh37 Chromosome 10, 102289160: 102289160
6 NDUFB8 NM_005004.3(NDUFB8): c.189delA (p.Glu63Aspfs) deletion Pathogenic rs1264186261 GRCh38 Chromosome 10, 100529403: 100529403
7 NDUFB8 NM_005004.3(NDUFB8): c.184T> C (p.Tyr62His) single nucleotide variant Pathogenic rs1554843434 GRCh37 Chromosome 10, 102289165: 102289165
8 NDUFB8 NM_005004.3(NDUFB8): c.184T> C (p.Tyr62His) single nucleotide variant Pathogenic rs1554843434 GRCh38 Chromosome 10, 100529408: 100529408

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 32

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 32.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 32

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 32

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 32

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....