MC4DN13
MCID: MTC211
MIFTS: 20

Mitochondrial Complex Iv Deficiency, Nuclear Type 13 (MC4DN13)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 13:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 13 57
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 57 72 29 6
Cemcox4 57 72
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4; Cemcox4 57
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency, Type 4 39
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 4 12
Mc4dn13 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero or at birth
two unrelated patients have been reported (last curated july 2015)
lethal in first weeks of life


HPO:

31
mitochondrial complex iv deficiency, nuclear type 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080360
OMIM® 57 616501
OMIM Phenotypic Series 57 PS220110

Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

UniProtKB/Swiss-Prot : 72 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4: An infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non- compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency.

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 13, is also known as cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 13 is COA6 (Cytochrome C Oxidase Assembly Factor 6). Related phenotypes are hypertrophic cardiomyopathy and lactic acidosis

Disease Ontology : 12 A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has material basis in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.

More information from OMIM: 616501 PS220110

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 13:

31
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 HP:0001639
2 lactic acidosis 31 HP:0003128
3 short chin 31 HP:0000331
4 hypotonia 31 HP:0001252
5 left ventricular noncompaction 31 HP:0030682

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
hypertrophic cardiomyopathy
left ventricular noncompaction

Muscle Soft Tissue:
hypotonia metabolic : lactic acidosis

Head And Neck Face:
small chin
abnormal facies
flat orbital ridges

Laboratory Abnormalities:
mitochondrial complex iv deficiency in cardiac tissue

Clinical features from OMIM®:

616501 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

Genetic tests related to Mitochondrial Complex Iv Deficiency, Nuclear Type 13:

# Genetic test Affiliating Genes
1 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 29 COA6

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 13:

# Title Authors PMID Year
1
COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2. 57 6
26160915 2015
2
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy. 6 57
25339201 2015
3
Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency. 6 57
24549041 2014
4
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 6 57
22277967 2012
5
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. 6
25959673 2015

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 13:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COA6 NM_001206641.3(COA6):c.267G>C (p.Trp89Cys) SNV Pathogenic 144036 rs1558123786 GRCh37: 1:234510030-234510030
GRCh38: 1:234374284-234374284
2 COA6 NM_001206641.3(COA6):c.349G>T (p.Glu117Ter) SNV Pathogenic 144037 rs146440690 GRCh37: 1:234510112-234510112
GRCh38: 1:234374366-234374366
3 COA6 NM_001206641.3(COA6):c.286T>C (p.Trp96Arg) SNV Pathogenic 204622 rs875989827 GRCh37: 1:234510049-234510049
GRCh38: 1:234374303-234374303

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 13:

72
# Symbol AA change Variation ID SNP ID
1 COA6 p.Trp59Cys VAR_075046 rs155812378
2 COA6 p.Trp66Arg VAR_075047 rs875989827

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 13.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 13

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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