MC3DN6
MCID: MTC090
MIFTS: 19

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 58 30 6 41 74
Mc3dn6 58 76
Mitochondrial Complex Iii Deficiency Nuclear Type 6 12
Mitochondrial Complex Iii Deficiency, Nuclear 6 76

Characteristics:

OMIM:

58
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:

33
mitochondrial complex iii deficiency, nuclear type 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

OMIM : 58 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)

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 : 76 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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 elevated hepatic transaminase 33 HP:0002910
2 increased serum lactate 33 HP:0002151
3 lactic acidosis 33 HP:0003128
4 acute hepatic failure 33 HP:0006554
5 hyperammonemia 33 HP:0001987
6 encephalopathy 33 HP:0001298
7 episodic ketoacidosis 33 HP:0005974

Symptoms via clinical synopsis from OMIM:

58
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

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 30 CYC1

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

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

42
Liver

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

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

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

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

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

76
# Symbol AA change Variation ID SNP ID
1 CYC1 p.Trp96Cys VAR_070847 rs587777041
2 CYC1 p.Leu215Phe VAR_070848 rs587777042

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYC1 NM_001916.4(CYC1): c.288G> T (p.Trp96Cys) single nucleotide variant Pathogenic rs587777041 GRCh37 Chromosome 8, 145150894: 145150894
2 CYC1 NM_001916.4(CYC1): c.288G> T (p.Trp96Cys) single nucleotide variant Pathogenic rs587777041 GRCh38 Chromosome 8, 144095991: 144095991
3 CYC1 NM_001916.4(CYC1): c.643C> T (p.Leu215Phe) single nucleotide variant Pathogenic rs587777042 GRCh37 Chromosome 8, 145151518: 145151518
4 CYC1 NM_001916.4(CYC1): c.643C> T (p.Leu215Phe) single nucleotide variant Pathogenic rs587777042 GRCh38 Chromosome 8, 144096615: 144096615

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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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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