MCID: MTC090
MIFTS: 18

Mitochondrial Complex Iii Deficiency, Nuclear Type 6

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 40 73
Mc3dn6 57 75
Mitochondrial Complex Iii Deficiency Nuclear Type 6 12
Mitochondrial Complex Iii Deficiency, Nuclear 6 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mitochondrial complex iii deficiency, nuclear type 6:
Inheritance autosomal recessive inheritance


Classifications:



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)

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 hyperammonemia 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
acute liver failure, episodic

Metabolic Features:
ketoacidosis, episodic
lactic acidosis, episodic

Laboratory Abnormalities:
increased serum lactate
hyperammonemia, episodic
abnormal liver enzymes, episodic
decreased mitochondrial complex iii activity (in liver, muscle, and fibroblasts)

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

Endocrine Features:
hyperglycemia, insulin-responsive, episodic


Clinical features from OMIM:

615453

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hyperammonemia 32 HP:0001987
2 increased serum lactate 32 HP:0002151
3 elevated hepatic transaminases 32 HP:0002910
4 lactic acidosis 32 HP:0003128
5 episodic ketoacidosis 32 HP:0005974
6 acute hepatic failure 32 HP:0006554

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:

41
Liver

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 6

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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