MCID: CMB051
MIFTS: 19

Combined Oxidative Phosphorylation Deficiency 21

Categories: Genetic diseases, Neuronal diseases, Metabolic 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 75 29 6 73
Coxpd21 57 59 75
Combined Oxidative Phosphorylation Deficiency, Type 21 40
Combined Oxidative Phosphorylation Defect Type 21 59

Characteristics:

Orphanet epidemiological data:

59
combined oxidative phosphorylation defect type 21
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
combined oxidative phosphorylation deficiency 21:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 615918
Orphanet 59 ORPHA420733
ICD10 via Orphanet 34 E88.8
MeSH 44 D028361
UMLS 73 C4014668

Summaries for Combined Oxidative Phosphorylation Deficiency 21

UniProtKB/Swiss-Prot : 75 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 generalized hypotonia

Description from OMIM: 615918

Related Diseases for Combined Oxidative Phosphorylation Deficiency 21

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 21

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatic steatosis

Neurologic Central Nervous System:
delayed psychomotor development
axial hypotonia
limb hypertonia
thin corpus callosum
hyperintense lesions of the globi pallidi
more
Muscle Soft Tissue:
hypotonia
multiple mitochondrial respiratory enzymes deficiencies seen on biopsy
subsarcolemmal lipofuscin-positive deposits

Laboratory Abnormalities:
increased serum lactate


Clinical features from OMIM:

615918

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 21:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 generalized hypotonia 32 HP:0001290
3 hepatic steatosis 32 HP:0001397
4 hypoplasia of the corpus callosum 32 HP:0002079
5 increased serum lactate 32 HP:0002151
6 limb hypertonia 32 HP:0002509
7 muscular hypotonia of the trunk 32 HP:0008936

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

Variations for Combined Oxidative Phosphorylation Deficiency 21

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

75
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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