COXPD21
MCID: CMB051
MIFTS: 22

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 57 12 72 29 6 15 70
Coxpd21 57 12 58 72
Combined Oxidative Phosphorylation Defect Type 21 58 17
Combined Oxidative Phosphorylation Deficiency, Type 21 39

Characteristics:

Orphanet epidemiological data:

58
combined oxidative phosphorylation defect type 21
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
combined oxidative phosphorylation deficiency 21:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111465
OMIM® 57 615918
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA420733
UMLS 70 C4014668

Summaries for Combined Oxidative Phosphorylation Deficiency 21

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are global developmental delay and hepatic steatosis

Disease Ontology : 12 A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has material basis in homozygous or compound heterozygous mutation in TARS2 on chromosome 1q21.2.

More information from OMIM: 615918 PS609060

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 hepatic steatosis 31 HP:0001397
3 increased serum lactate 31 HP:0002151
4 hypoplasia of the corpus callosum 31 HP:0002079
5 generalized hypotonia 31 HP:0001290
6 muscular hypotonia of the trunk 31 HP:0008936
7 limb hypertonia 31 HP:0002509

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 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 PMID Year
1
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 57 6
24827421 2014
2
Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report. 61
33153448 2020

Variations for Combined Oxidative Phosphorylation Deficiency 21

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 21:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TARS2 NM_025150.5(TARS2):c.695+3A>G SNV Pathogenic 143050 rs587777594 GRCh37: 1:150464141-150464141
GRCh38: 1:150491665-150491665
2 TARS2 NM_025150.5(TARS2):c.845C>T (p.Pro282Leu) SNV Pathogenic 143049 rs587777593 GRCh37: 1:150469028-150469028
GRCh38: 1:150496552-150496552
3 TARS2 NM_025150.5(TARS2):c.326G>A (p.Arg109Gln) SNV Uncertain significance 623374 rs760526545 GRCh37: 1:150461502-150461502
GRCh38: 1:150489026-150489026
4 TARS2 NM_025150.5(TARS2):c.736C>T (p.Arg246Trp) SNV Uncertain significance 1030906 GRCh37: 1:150464927-150464927
GRCh38: 1:150492451-150492451
5 TARS2 NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) SNV Uncertain significance 1030907 GRCh37: 1:150464964-150464964
GRCh38: 1:150492488-150492488
6 TARS2 NM_025150.5(TARS2):c.887A>G (p.Glu296Gly) SNV Uncertain significance 1030908 GRCh37: 1:150469070-150469070
GRCh38: 1:150496594-150496594
7 TARS2 NM_025150.5(TARS2):c.1207G>A (p.Ala403Thr) SNV Uncertain significance 1034091 GRCh37: 1:150470192-150470192
GRCh38: 1:150497716-150497716
8 TARS2 NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp) SNV Uncertain significance 870782 GRCh37: 1:150471093-150471093
GRCh38: 1:150498617-150498617

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

72
# Symbol AA change Variation ID SNP ID
1 TARS2 p.Pro282Leu VAR_071853 rs587777593

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

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