COXPD20
MCID: CMB052
MIFTS: 19

Combined Oxidative Phosphorylation Deficiency 20 (COXPD20)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 20

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 20:

Name: Combined Oxidative Phosphorylation Deficiency 20 58 76 30 6 74
Coxpd20 58 60 76
Oxidative Phosphorylation Deficiency, Combined, Type 20 41
Combined Oxidative Phosphorylation Defect Type 20 60

Characteristics:

Orphanet epidemiological data:

60
combined oxidative phosphorylation defect type 20
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable features
two unrelated patients have been reported (last curated july 2014)


HPO:

33
combined oxidative phosphorylation deficiency 20:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 20

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 20: A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 20, is also known as coxpd20. An important gene associated with Combined Oxidative Phosphorylation Deficiency 20 is VARS2 (Valyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include liver, and related phenotypes are ptosis and seizures

Description from OMIM: 615917

Related Diseases for Combined Oxidative Phosphorylation Deficiency 20

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 20

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 20:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 occasional (7.5%) HP:0000508
2 seizures 33 occasional (7.5%) HP:0001250
3 ataxia 33 occasional (7.5%) HP:0001251
4 global developmental delay 33 occasional (7.5%) HP:0001263
5 abnormal facial shape 33 occasional (7.5%) HP:0001999
6 progressive external ophthalmoplegia 33 occasional (7.5%) HP:0000590
7 microcephaly 33 HP:0000252
8 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
hypotonia
mitochondrial complex i deficiency
muscle biopsy may show deficiency of multiple mitochondrial respiratory complexes

Head And Neck Head:
microcephaly (1 patient)

Head And Neck Eyes:
ptosis (1 patient)
progressive external ophthalmoplegia (1 patient)

Neurologic Central Nervous System:
seizures (1 patient)
delayed psychomotor development (1 patient)
ataxia (1 patient)
white matter abnormalities in the periventricular regions (1 patient)

Head And Neck Face:
facial dysmorphism (1 patient)

Clinical features from OMIM:

615917

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 20

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 20

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 20

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 20:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 20 30 VARS2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 20

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 20:

42
Liver

Publications for Combined Oxidative Phosphorylation Deficiency 20

Variations for Combined Oxidative Phosphorylation Deficiency 20

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 20:

76
# Symbol AA change Variation ID SNP ID
1 VARS2 p.Thr337Ile VAR_071850 rs587777585
2 VARS2 p.Ala349Thr VAR_071851 rs587777583
3 VARS2 p.Ala596Asp VAR_071852 rs587777584

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 20:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 VARS2 NM_001167734.1(VARS2): c.1135G> A (p.Ala379Thr) single nucleotide variant Pathogenic rs587777583 GRCh37 Chromosome 6, 30886663: 30886663
2 VARS2 NM_001167734.1(VARS2): c.1135G> A (p.Ala379Thr) single nucleotide variant Pathogenic rs587777583 GRCh38 Chromosome 6, 30918886: 30918886
3 VARS2 NM_001167734.1(VARS2): c.1877C> A (p.Ala626Asp) single nucleotide variant Pathogenic rs587777584 GRCh37 Chromosome 6, 30889753: 30889753
4 VARS2 NM_001167734.1(VARS2): c.1877C> A (p.Ala626Asp) single nucleotide variant Pathogenic rs587777584 GRCh38 Chromosome 6, 30921976: 30921976
5 VARS2 NM_001167734.1(VARS2): c.1100C> T (p.Thr367Ile) single nucleotide variant Pathogenic rs587777585 GRCh37 Chromosome 6, 30886628: 30886628
6 VARS2 NM_001167734.1(VARS2): c.1100C> T (p.Thr367Ile) single nucleotide variant Pathogenic rs587777585 GRCh38 Chromosome 6, 30918851: 30918851
7 VARS2 NM_001167734.1(VARS2): c.1940C> T (p.Thr647Met) single nucleotide variant Uncertain significance rs367837827 GRCh37 Chromosome 6, 30889936: 30889936
8 VARS2 NM_001167734.1(VARS2): c.1940C> T (p.Thr647Met) single nucleotide variant Uncertain significance rs367837827 GRCh38 Chromosome 6, 30922159: 30922159
9 VARS2 NM_001167734.1(VARS2): c.601C> T (p.Arg201Trp) single nucleotide variant Likely pathogenic rs139515727 GRCh37 Chromosome 6, 30883762: 30883762
10 VARS2 NM_001167734.1(VARS2): c.601C> T (p.Arg201Trp) single nucleotide variant Likely pathogenic rs139515727 GRCh38 Chromosome 6, 30915985: 30915985
11 VARS2 NM_020442.5(VARS2): c.1400G> C (p.Arg467Pro) single nucleotide variant Likely pathogenic rs775439829 GRCh37 Chromosome 6, 30888447: 30888447
12 VARS2 NM_020442.5(VARS2): c.1400G> C (p.Arg467Pro) single nucleotide variant Likely pathogenic rs775439829 GRCh38 Chromosome 6, 30920670: 30920670
13 VARS2 NM_020442.5(VARS2): c.1461_1463delGGG (p.Gly488del) deletion Likely pathogenic rs1554268077 GRCh37 Chromosome 6, 30888508: 30888510
14 VARS2 NM_020442.5(VARS2): c.1461_1463delGGG (p.Gly488del) deletion Likely pathogenic rs1554268077 GRCh38 Chromosome 6, 30920731: 30920733
15 VARS2 NM_001167734.1(VARS2): c.1076-14A> G single nucleotide variant Uncertain significance rs1297230026 GRCh37 Chromosome 6, 30886590: 30886590
16 VARS2 NM_001167734.1(VARS2): c.1076-14A> G single nucleotide variant Uncertain significance rs1297230026 GRCh38 Chromosome 6, 30918813: 30918813
17 VARS2 NM_001167734.1(VARS2): c.1258G> A (p.Ala420Thr) single nucleotide variant Uncertain significance rs202201763 GRCh37 Chromosome 6, 30887868: 30887868
18 VARS2 NM_001167734.1(VARS2): c.1258G> A (p.Ala420Thr) single nucleotide variant Uncertain significance rs202201763 GRCh38 Chromosome 6, 30920091: 30920091

Expression for Combined Oxidative Phosphorylation Deficiency 20

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 20.

Pathways for Combined Oxidative Phosphorylation Deficiency 20

GO Terms for Combined Oxidative Phosphorylation Deficiency 20

Sources for Combined Oxidative Phosphorylation Deficiency 20

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