MC3DN6
MCID: MTC090
MIFTS: 20

Mitochondrial Complex Iii Deficiency, Nuclear Type 6 (MC3DN6)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency, Nuclear Type 6:

Name: Mitochondrial Complex Iii Deficiency, Nuclear Type 6 57 29 6 39 70
Mc3dn6 57 72
Mitochondrial Complex Iii Deficiency Nuclear Type 6 12
Mitochondrial Complex Iii Deficiency, Nuclear 6 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy or early childhood
two unrelated patients have been reported (last curated october 2013)
episodic decompensation is usually triggered by illness


HPO:

31
mitochondrial complex iii deficiency, nuclear type 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080115
OMIM® 57 615453
OMIM Phenotypic Series 57 PS124000
MeSH 44 D028361
UMLS 70 C3809553

Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

OMIM® : 57 Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by Gaignard et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000). (615453) (Updated 20-May-2021)

MalaCards based summary : Mitochondrial Complex Iii Deficiency, Nuclear Type 6, is also known as mc3dn6. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 6 is CYC1 (Cytochrome C1). Affiliated tissues include liver, and related phenotypes are elevated hepatic transaminase and increased serum lactate

Disease Ontology : 12 A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has material basis in homozygous mutation in the CYC1 gene on chromosome 8q24.

UniProtKB/Swiss-Prot : 72 Mitochondrial complex III deficiency, nuclear 6: An autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal.

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

Symptoms & Phenotypes for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

Human phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 6:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 elevated hepatic transaminase 31 HP:0002910
2 increased serum lactate 31 HP:0002151
3 hyperammonemia 31 HP:0001987
4 encephalopathy 31 HP:0001298
5 lactic acidosis 31 HP:0003128
6 acute hepatic failure 31 HP:0006554
7 episodic ketoacidosis 31 HP:0005974

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
increased serum lactate
hyperammonemia, episodic
abnormal liver enzymes, episodic
decreased mitochondrial complex iii activity (in liver, muscle, and fibroblasts)

Abdomen Liver:
acute liver failure, episodic

Endocrine Features:
hyperglycemia, insulin-responsive, episodic

Metabolic Features:
ketoacidosis, episodic
lactic acidosis, episodic

Neurologic Central Nervous System:
encephalopathy during episodes
coma during episodes (in some patients)

Clinical features from OMIM®:

615453 (Updated 20-May-2021)

Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

Genetic Tests for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

Genetic tests related to Mitochondrial Complex Iii Deficiency, Nuclear Type 6:

# Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 29 CYC1

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency, Nuclear Type 6:

40
Liver

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

Articles related to Mitochondrial Complex Iii Deficiency, Nuclear Type 6:

# Title Authors PMID Year
1
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. 6 57
23910460 2013

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

ClinVar genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYC1 NM_001916.5(CYC1):c.288G>T (p.Trp96Cys) SNV Pathogenic 66019 rs587777041 GRCh37: 8:145150894-145150894
GRCh38: 8:144095991-144095991
2 CYC1 NM_001916.5(CYC1):c.643C>T (p.Leu215Phe) SNV Pathogenic 66020 rs587777042 GRCh37: 8:145151518-145151518
GRCh38: 8:144096615-144096615
3 CYC1 NM_001916.5(CYC1):c.949C>T (p.Arg317Trp) SNV Uncertain significance 870566 GRCh37: 8:145152210-145152210
GRCh38: 8:144097307-144097307

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 6:

72
# Symbol AA change Variation ID SNP ID
1 CYC1 p.Trp96Cys VAR_070847 rs587777041
2 CYC1 p.Leu215Phe VAR_070848 rs587777042

Expression for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

Search GEO for disease gene expression data for Mitochondrial Complex Iii Deficiency, Nuclear Type 6.

Pathways for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

GO Terms for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

Sources for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

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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