MC4DN9
MCID: MTC210
MIFTS: 17

Mitochondrial Complex Iv Deficiency, Nuclear Type 9 (MC4DN9)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 9:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 9 57
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 57 72 29 6
Cemcox3 57 72
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3; Cemcox3 57
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency, Type 3 39
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 3 12
Mitochondrial Complex Iv, Deficiency, Nuclear Type 9 57
Mc4dn9 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in utero
lethal in first weeks of life
one consanguineous turkish family has been reported (last curated july 2015)


HPO:

31
mitochondrial complex iv deficiency, nuclear type 9:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080359
OMIM® 57 616500
OMIM Phenotypic Series 57 PS220110
SNOMED-CT via HPO 68 233873004 258211005 45227007

Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 9 (MC4DN9) is an autosomal recessive multisystem metabolic disorder characterized by neonatal hypertrophic cardiomyopathy resulting in death in early infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by Huigsloot et al., 2011). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (616500) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 9, is also known as cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 9 is COA5 (Cytochrome C Oxidase Assembly Factor 5). Affiliated tissues include heart, and related phenotype is hypertrophic cardiomyopathy.

Disease Ontology : 12 A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has material basis in homozygous mutation in the COA5 gene on chromosome 2q11.

UniProtKB/Swiss-Prot : 72 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3: An infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation.

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 9:

31
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 HP:0001639

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
hypertrophic cardiomyopathy
cardiomyocytes show an accumulation of lipid droplets and mitochondrial proliferation

Laboratory Abnormalities:
mitochondrial complex iv deficiency in fibroblasts and heart muscle

Clinical features from OMIM®:

616500 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

Genetic tests related to Mitochondrial Complex Iv Deficiency, Nuclear Type 9:

# Genetic test Affiliating Genes
1 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 29 COA5

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 9:

40
Heart

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 9:

# Title Authors PMID Year
1
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. 6 57
21457908 2011

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COA5 NM_001008215.3(COA5):c.157G>C (p.Ala53Pro) SNV Pathogenic 31087 rs387907099 GRCh37: 2:99220597-99220597
GRCh38: 2:98604134-98604134

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 9:

72
# Symbol AA change Variation ID SNP ID
1 COA5 p.Ala53Pro VAR_065499 rs387907099

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 9.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 9

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
Content
Loading form....