COXPD21
MCID: CMB051
MIFTS: 20

Combined Oxidative Phosphorylation Deficiency 21 (COXPD21)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 21

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 21:

Name: Combined Oxidative Phosphorylation Deficiency 21 58 76 30 6 74
Coxpd21 58 60 76
Combined Oxidative Phosphorylation Defect Type 21 60 17
Combined Oxidative Phosphorylation Deficiency, Type 21 41

Characteristics:

Orphanet epidemiological data:

60
combined oxidative phosphorylation defect type 21
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two affected sibs have been reported (last curated july 2014)
death in first months of life


HPO:

33
combined oxidative phosphorylation deficiency 21:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 615918
MeSH 45 D028361
ICD10 via Orphanet 35 G31.8
Orphanet 60 ORPHA420733
UMLS 74 C4014668

Summaries for Combined Oxidative Phosphorylation Deficiency 21

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 21: A mitochondrial disorder characterized by a lethal encephalomyopathy. Shortly after birth, affected individuals manifest axial hypotonia, limb hypertonia, psychomotor delay, and increased serum lactate. Additional features include subsarcolemmal lipofuscin-positive deposits in muscle, cerebral spongiosis, and hepatic steatosis.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 21, is also known as coxpd21. An important gene associated with Combined Oxidative Phosphorylation Deficiency 21 is TARS2 (Threonyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Gene Expression and tRNA Aminoacylation. Related phenotypes are global developmental delay and hepatic steatosis

Description from OMIM: 615918

Related Diseases for Combined Oxidative Phosphorylation Deficiency 21

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 21

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 21:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 HP:0001263
2 hepatic steatosis 33 HP:0001397
3 increased serum lactate 33 HP:0002151
4 generalized hypotonia 33 HP:0001290
5 hypoplasia of the corpus callosum 33 HP:0002079
6 muscular hypotonia of the trunk 33 HP:0008936
7 limb hypertonia 33 HP:0002509

Symptoms via clinical synopsis from OMIM:

58
Abdomen Liver:
hepatic steatosis

Neurologic Central Nervous System:
limb hypertonia
delayed psychomotor development
thin corpus callosum
axial hypotonia
hyperintense lesions of the globi pallidi
more
Laboratory Abnormalities:
increased serum lactate

Muscle Soft Tissue:
hypotonia
multiple mitochondrial respiratory enzymes deficiencies seen on biopsy
subsarcolemmal lipofuscin-positive deposits

Clinical features from OMIM:

615918

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 21

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 21

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 21

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 21:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 21 30 TARS2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 21

Publications for Combined Oxidative Phosphorylation Deficiency 21

Articles related to Combined Oxidative Phosphorylation Deficiency 21:

# Title Authors Year
1
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. ( 24827421 )
2014

Variations for Combined Oxidative Phosphorylation Deficiency 21

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 21:

76
# Symbol AA change Variation ID SNP ID
1 TARS2 p.Pro282Leu VAR_071853 rs587777593

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 21:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TARS2 NM_025150.4(TARS2): c.845C> T (p.Pro282Leu) single nucleotide variant Pathogenic rs587777593 GRCh37 Chromosome 1, 150469028: 150469028
2 TARS2 NM_025150.4(TARS2): c.845C> T (p.Pro282Leu) single nucleotide variant Pathogenic rs587777593 GRCh38 Chromosome 1, 150496552: 150496552
3 TARS2 NM_025150.4(TARS2): c.695+3A> G single nucleotide variant Pathogenic rs587777594 GRCh37 Chromosome 1, 150464141: 150464141
4 TARS2 NM_025150.4(TARS2): c.695+3A> G single nucleotide variant Pathogenic rs587777594 GRCh38 Chromosome 1, 150491665: 150491665
5 TARS2 NM_025150.5(TARS2): c.326G> A (p.Arg109Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 150489026: 150489026
6 TARS2 NM_025150.5(TARS2): c.326G> A (p.Arg109Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 150461502: 150461502

Expression for Combined Oxidative Phosphorylation Deficiency 21

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 21.

Pathways for Combined Oxidative Phosphorylation Deficiency 21

Pathways related to Combined Oxidative Phosphorylation Deficiency 21 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 MIR6878 TARS2
2
Show member pathways
10.87 MIR6878 TARS2

GO Terms for Combined Oxidative Phosphorylation Deficiency 21

Sources for Combined Oxidative Phosphorylation Deficiency 21

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
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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