MC1DN32
MCID: MTC177
MIFTS: 20

Mitochondrial Complex I Deficiency, Nuclear Type 32 (MC1DN32)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn32 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 32 29 6
Nuclear Type Mitochondrial Complex I Deficiency 32 12

Characteristics:

OMIM®:

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

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


HPO:

31
mitochondrial complex i deficiency, nuclear type 32:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0112080
OMIM® 57 618252
OMIM Phenotypic Series 57 PS252010
MeSH 44 D028361

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 32

UniProtKB/Swiss-Prot : 72 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 brain, and related phenotypes are failure to thrive and respiratory insufficiency

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFB8 on chromosome 10q24.31.

More information from OMIM: 618252 PS252010

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 respiratory insufficiency 31 HP:0002093
3 increased serum lactate 31 HP:0002151
4 increased csf lactate 31 HP:0002490
5 metabolic acidosis 31 HP:0001942
6 generalized hypotonia 31 HP:0001290
7 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

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

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

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 32:

# Genetic test Affiliating Genes
1 Mitochondrial Complex 1 Deficiency, Nuclear Type 32 29 NDUFB8

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 32

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

40
Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 32

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

# Title Authors PMID Year
1
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 57 6
29429571 2018

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 32

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFB8 NM_005004.4(NDUFB8):c.227C>A (p.Pro76Gln) SNV Pathogenic 548131 rs1239013578 GRCh37: 10:102286817-102286817
GRCh38: 10:100527060-100527060
2 NDUFB8 NM_005004.4(NDUFB8):c.432C>G (p.Cys144Trp) SNV Pathogenic 548132 rs1554843251 GRCh37: 10:102286192-102286192
GRCh38: 10:100526435-100526435
3 NDUFB8 NM_005004.4(NDUFB8):c.189del (p.Glu63fs) Deletion Pathogenic 548133 rs1264186261 GRCh37: 10:102289160-102289160
GRCh38: 10:100529403-100529403
4 NDUFB8 NM_005004.4(NDUFB8):c.184T>C (p.Tyr62His) SNV Pathogenic 548134 rs1554843434 GRCh37: 10:102289165-102289165
GRCh38: 10:100529408-100529408

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

72
# Symbol AA change Variation ID SNP ID
1 NDUFB8 p.Tyr62His VAR_081466 rs155484343
2 NDUFB8 p.Pro76Gln VAR_081467 rs123901357
3 NDUFB8 p.Cys144Trp VAR_081469 rs155484325

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
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
Content
Loading form....