MCID: CMB019
MIFTS: 21

Combined Oxidative Phosphorylation Deficiency 8

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 8

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 8:

Name: Combined Oxidative Phosphorylation Deficiency 8 57 75 29 13 6 73
Coxpd8 57 59 75
Cardiomyopathy, Hypertrophic Mitochondrial, Fatal Infantile 57
Cardiomyopathy Hypertrophic Mitochondrial Fatal Infantile 75
Combined Oxidative Phosphorylation Deficiency, Type 8 40
Combined Oxidative Phosphorylation Defect Type 8 59

Characteristics:

Orphanet epidemiological data:

59
combined oxidative phosphorylation defect type 8
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

57
Miscellaneous:
death in infancy

Inheritance:
autosomal recessive


HPO:

32
combined oxidative phosphorylation deficiency 8:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 614096
Orphanet 59 ORPHA319504
ICD10 via Orphanet 34 I42.2
MedGen 42 C3279793
UMLS 73 C3279793

Summaries for Combined Oxidative Phosphorylation Deficiency 8

OMIM : 57 COXPD8 is an autosomal recessive disorder due to dysfunction of the mitochondrial respiratory chain. The main clinical manifestation is a lethal infantile hypertrophic cardiomyopathy, but there may also be subtle skeletal muscle and brain involvement. Biochemical studies show combined respiratory chain complex deficiencies in complexes I, III, and IV in cardiac muscle, skeletal muscle, and brain. The liver is not affected (summary by Gotz et al., 2011). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (614096)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 8, is also known as coxpd8, and has symptoms including generalized muscle weakness and staring spells. An important gene associated with Combined Oxidative Phosphorylation Deficiency 8 is AARS2 (Alanyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include liver, skeletal muscle and brain, and related phenotypes are failure to thrive and hypertrophic cardiomyopathy

UniProtKB/Swiss-Prot : 75 Combined oxidative phosphorylation deficiency 8: A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 8

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 8

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Muscle Soft Tissue:
generalized muscle weakness

Metabolic Features:
lactic acidosis

Respiratory Lung:
pulmonary hypoplasia, mild

Cardiovascular Heart:
hypertrophic cardiomyopathy
histiocytoid changes

Laboratory Abnormalities:
increased serum lactate
decreased mitochondrial respiratory complexes i, iii, and iv in brain, heart, and skeletal muscle

Neurologic Central Nervous System:
eeg abnormalities
periodic stiffness
staring spells


Clinical features from OMIM:

614096

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 8:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 hypertrophic cardiomyopathy 32 HP:0001639
3 pulmonary hypoplasia 32 HP:0002089
4 increased serum lactate 32 HP:0002151
5 eeg abnormality 32 HP:0002353
6 lactic acidosis 32 HP:0003128
7 generalized muscle weakness 32 HP:0003324

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 8:


generalized muscle weakness, staring spells

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 8

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 8

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 8

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 8:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 8 29 AARS2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 8

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 8:

41
Liver, Skeletal Muscle, Brain, Heart

Publications for Combined Oxidative Phosphorylation Deficiency 8

Variations for Combined Oxidative Phosphorylation Deficiency 8

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 8:

75
# Symbol AA change Variation ID SNP ID
1 AARS2 p.Leu155Arg VAR_065956 rs387907061
2 AARS2 p.Arg592Trp VAR_065957 rs138119149

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 8:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 AARS2 NM_020745.3(AARS2): c.1774C> T (p.Arg592Trp) single nucleotide variant Pathogenic/Likely pathogenic rs138119149 GRCh37 Chromosome 6, 44272249: 44272249
2 AARS2 NM_020745.3(AARS2): c.1774C> T (p.Arg592Trp) single nucleotide variant Pathogenic/Likely pathogenic rs138119149 GRCh38 Chromosome 6, 44304512: 44304512
3 AARS2 NM_020745.3(AARS2): c.464T> G (p.Leu155Arg) single nucleotide variant Pathogenic rs387907061 GRCh37 Chromosome 6, 44279244: 44279244
4 AARS2 NM_020745.3(AARS2): c.464T> G (p.Leu155Arg) single nucleotide variant Pathogenic rs387907061 GRCh38 Chromosome 6, 44311507: 44311507
5 AARS2 NM_020745.3(AARS2): c.647dupG (p.Cys218Leufs) duplication Pathogenic rs587777589 GRCh37 Chromosome 6, 44278833: 44278833
6 AARS2 NM_020745.3(AARS2): c.647dupG (p.Cys218Leufs) duplication Pathogenic rs587777589 GRCh38 Chromosome 6, 44311096: 44311096
7 AARS2 NM_020745.3(AARS2): c.1561C> T (p.Arg521Ter) single nucleotide variant Pathogenic rs587777591 GRCh37 Chromosome 6, 44272809: 44272809
8 AARS2 NM_020745.3(AARS2): c.1561C> T (p.Arg521Ter) single nucleotide variant Pathogenic rs587777591 GRCh38 Chromosome 6, 44305072: 44305072
9 AARS2 NM_020745.3(AARS2): c.1660C> T (p.Arg554Cys) single nucleotide variant Uncertain significance rs146924860 GRCh37 Chromosome 6, 44272474: 44272474
10 AARS2 NM_020745.3(AARS2): c.1660C> T (p.Arg554Cys) single nucleotide variant Uncertain significance rs146924860 GRCh38 Chromosome 6, 44304737: 44304737
11 AARS2 NM_020745.3(AARS2): c.1534G> C (p.Asp512His) single nucleotide variant Conflicting interpretations of pathogenicity rs146512155 GRCh37 Chromosome 6, 44272836: 44272836
12 AARS2 NM_020745.3(AARS2): c.1534G> C (p.Asp512His) single nucleotide variant Conflicting interpretations of pathogenicity rs146512155 GRCh38 Chromosome 6, 44305099: 44305099
13 AARS2 NM_020745.3(AARS2): c.985C> T (p.Arg329Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200187887 GRCh37 Chromosome 6, 44275041: 44275041
14 AARS2 NM_020745.3(AARS2): c.985C> T (p.Arg329Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200187887 GRCh38 Chromosome 6, 44307304: 44307304
15 AARS2 NM_020745.3(AARS2): c.2356G> A (p.Ala786Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 44270547: 44270547
16 AARS2 NM_020745.3(AARS2): c.2356G> A (p.Ala786Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 44302810: 44302810

Expression for Combined Oxidative Phosphorylation Deficiency 8

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 8.

Pathways for Combined Oxidative Phosphorylation Deficiency 8

GO Terms for Combined Oxidative Phosphorylation Deficiency 8

Sources for Combined Oxidative Phosphorylation Deficiency 8

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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