COXPD14
MCID: CMB044
MIFTS: 22

Combined Oxidative Phosphorylation Deficiency 14 (COXPD14)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 14

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 14:

Name: Combined Oxidative Phosphorylation Deficiency 14 58 76 30 13 6 74
Coxpd14 58 60 76
Oxidative Phosphorylation Deficiency, Combined, Type 14 41
Combined Oxidative Phosphorylation Defect Type 14 60

Characteristics:

Orphanet epidemiological data:

60
combined oxidative phosphorylation defect type 14
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in early infancy
death in infancy (in some patients)


HPO:

33
combined oxidative phosphorylation deficiency 14:
Mortality/Aging death in infancy
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 14

OMIM : 58 COXPD14 is a severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes. Neuropathologic studies in 1 patient showed laminar cortical necrosis, characteristic of Alpers syndrome (203700) (summary by Elo et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (614946)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 14, also known as coxpd14, is related to fars2 deficiency and mitochondrial dna depletion syndrome 4a, and has symptoms including myoclonus An important gene associated with Combined Oxidative Phosphorylation Deficiency 14 is FARS2 (Phenylalanyl-TRNA Synthetase 2, Mitochondrial). Related phenotypes are hearing impairment and visual impairment

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 14: A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 14

Diseases related to Combined Oxidative Phosphorylation Deficiency 14 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fars2 deficiency 11.4
2 mitochondrial dna depletion syndrome 4a 11.1

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 14

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 14:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 occasional (7.5%) HP:0000365
2 visual impairment 33 occasional (7.5%) HP:0000505
3 aminoaciduria 33 occasional (7.5%) HP:0003355
4 anemia 33 occasional (7.5%) HP:0001903
5 thrombocytopenia 33 occasional (7.5%) HP:0001873
6 seizures 33 HP:0001250
7 eeg abnormality 33 HP:0002353
8 global developmental delay 33 HP:0001263
9 microcephaly 33 HP:0000252
10 feeding difficulties 33 HP:0011968
11 myoclonus 33 HP:0001336
12 growth delay 33 HP:0001510
13 ventriculomegaly 33 HP:0002119
14 increased serum lactate 33 HP:0002151
15 lactic acidosis 33 HP:0003128
16 cerebellar atrophy 33 HP:0001272
17 generalized hypotonia 33 HP:0001290
18 atrophy/degeneration affecting the brainstem 33 HP:0007366
19 cerebral atrophy 33 HP:0002059
20 gliosis 33 HP:0002171
21 diffuse cerebral atrophy 33 HP:0002506

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly

Laboratory Abnormalities:
increased serum lactate
aminoaciduria (rare)

Muscle Soft Tissue:
hypotonia
deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

Growth Other:
poor growth

Head And Neck Eyes:
coarse retinal pigmentation (rare)
visual impairment (rare)

Hematology:
anemia (rare)
thrombocytopenia (rare)

Neurologic Central Nervous System:
myoclonus
cerebellar atrophy
cerebral atrophy
enlarged ventricles
seizures, refractory
more
Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
poor feeding

Head And Neck Ears:
hearing impairment (rare)

Abdomen Liver:
enlarged hepatocytes (rare)
increased glycogen content (rare)

Clinical features from OMIM:

614946

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 14:


myoclonus

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 14

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 14

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 14

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 14:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 14 30 FARS2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 14

Publications for Combined Oxidative Phosphorylation Deficiency 14

Variations for Combined Oxidative Phosphorylation Deficiency 14

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 14:

76
# Symbol AA change Variation ID SNP ID
1 FARS2 p.Tyr144Cys VAR_069487 rs397514610
2 FARS2 p.Ile329Thr VAR_069488 rs397514611
3 FARS2 p.Asp391Val VAR_069489 rs397514612

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 14:

6 (show top 50) (show all 170)
# Gene Variation Type Significance SNP ID Assembly Location
1 FARS2 NM_006567.4(FARS2): c.101C> T (p.Ser34Leu) single nucleotide variant Uncertain significance rs148568494 GRCh37 Chromosome 6, 5368904: 5368904
2 FARS2 NM_006567.4(FARS2): c.101C> T (p.Ser34Leu) single nucleotide variant Uncertain significance rs148568494 GRCh38 Chromosome 6, 5368671: 5368671
3 FARS2 NM_006567.4(FARS2): c.170C> G (p.Ser57Cys) single nucleotide variant Benign/Likely benign rs34382405 GRCh38 Chromosome 6, 5368740: 5368740
4 FARS2 NM_006567.4(FARS2): c.170C> G (p.Ser57Cys) single nucleotide variant Benign/Likely benign rs34382405 GRCh37 Chromosome 6, 5368973: 5368973
5 FARS2 NM_006567.4(FARS2): c.403C> G (p.His135Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 5369206: 5369206
6 FARS2 NM_006567.4(FARS2): c.403C> G (p.His135Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 5368973: 5368973
7 FARS2 NM_006567.4(FARS2): c.506A> T (p.Asp169Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146356199 GRCh37 Chromosome 6, 5369309: 5369309
8 FARS2 NM_006567.4(FARS2): c.506A> T (p.Asp169Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146356199 GRCh38 Chromosome 6, 5369076: 5369076
9 FARS2 NM_006567.4(FARS2): c.550G> A (p.Asp184Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs554931092 GRCh37 Chromosome 6, 5369353: 5369353
10 FARS2 NM_006567.4(FARS2): c.550G> A (p.Asp184Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs554931092 GRCh38 Chromosome 6, 5369120: 5369120
11 FARS2 NM_006567.4(FARS2): c.667C> T (p.Arg223Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202060864 GRCh37 Chromosome 6, 5404829: 5404829
12 FARS2 NM_006567.4(FARS2): c.667C> T (p.Arg223Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202060864 GRCh38 Chromosome 6, 5404596: 5404596
13 FARS2 NM_006567.4(FARS2): c.971A> G (p.Tyr324Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142073519 GRCh37 Chromosome 6, 5545479: 5545479
14 FARS2 NM_006567.4(FARS2): c.971A> G (p.Tyr324Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142073519 GRCh38 Chromosome 6, 5545246: 5545246
15 FARS2 NM_006567.4(FARS2): c.1082C> T (p.Pro361Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs751459058 GRCh37 Chromosome 6, 5613418: 5613418
16 FARS2 NM_006567.4(FARS2): c.1082C> T (p.Pro361Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs751459058 GRCh38 Chromosome 6, 5613185: 5613185
17 FARS2 NM_006567.4(FARS2): c.1220C> T (p.Thr407Met) single nucleotide variant Conflicting interpretations of pathogenicity rs372054960 GRCh37 Chromosome 6, 5771526: 5771526
18 FARS2 NM_006567.4(FARS2): c.1220C> T (p.Thr407Met) single nucleotide variant Conflicting interpretations of pathogenicity rs372054960 GRCh38 Chromosome 6, 5771293: 5771293
19 FARS2 NM_006567.4(FARS2): c.1268G> A (p.Arg423Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148921184 GRCh37 Chromosome 6, 5771574: 5771574
20 FARS2 NM_006567.4(FARS2): c.1268G> A (p.Arg423Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148921184 GRCh38 Chromosome 6, 5771341: 5771341
21 FARS2 NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397514610 GRCh37 Chromosome 6, 5369234: 5369234
22 FARS2 NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397514610 GRCh38 Chromosome 6, 5369001: 5369001
23 FARS2 NM_006567.4(FARS2): c.986T> C (p.Ile329Thr) single nucleotide variant Likely pathogenic rs397514611 GRCh37 Chromosome 6, 5545494: 5545494
24 FARS2 NM_006567.4(FARS2): c.986T> C (p.Ile329Thr) single nucleotide variant Likely pathogenic rs397514611 GRCh38 Chromosome 6, 5545261: 5545261
25 FARS2 NM_006567.4(FARS2): c.1172A> T (p.Asp391Val) single nucleotide variant Likely pathogenic rs397514612 GRCh37 Chromosome 6, 5613508: 5613508
26 FARS2 NM_006567.4(FARS2): c.1172A> T (p.Asp391Val) single nucleotide variant Likely pathogenic rs397514612 GRCh38 Chromosome 6, 5613275: 5613275
27 FARS2 NM_006567.4(FARS2): c.102G> A (p.Ser34=) single nucleotide variant Benign rs113155624 GRCh37 Chromosome 6, 5368905: 5368905
28 FARS2 NM_006567.4(FARS2): c.102G> A (p.Ser34=) single nucleotide variant Benign rs113155624 GRCh38 Chromosome 6, 5368672: 5368672
29 FARS2 NM_006567.4(FARS2): c.339C> T (p.Tyr113=) single nucleotide variant Benign rs41302853 GRCh37 Chromosome 6, 5369142: 5369142
30 FARS2 NM_006567.4(FARS2): c.339C> T (p.Tyr113=) single nucleotide variant Benign rs41302853 GRCh38 Chromosome 6, 5368909: 5368909
31 FARS2 NM_006567.4(FARS2): c.606G> A (p.Lys202=) single nucleotide variant Benign/Likely benign rs17851782 GRCh37 Chromosome 6, 5369409: 5369409
32 FARS2 NM_006567.4(FARS2): c.606G> A (p.Lys202=) single nucleotide variant Benign/Likely benign rs17851782 GRCh38 Chromosome 6, 5369176: 5369176
33 FARS2 NM_006567.4(FARS2): c.737C> T (p.Thr246Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116567033 GRCh37 Chromosome 6, 5404899: 5404899
34 FARS2 NM_006567.4(FARS2): c.737C> T (p.Thr246Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116567033 GRCh38 Chromosome 6, 5404666: 5404666
35 FARS2 NM_006567.4(FARS2): c.839A> G (p.Asn280Ser) single nucleotide variant Benign rs11243011 GRCh37 Chromosome 6, 5431340: 5431340
36 FARS2 NM_006567.4(FARS2): c.839A> G (p.Asn280Ser) single nucleotide variant Benign rs11243011 GRCh38 Chromosome 6, 5431107: 5431107
37 FARS2 NM_006567.4(FARS2): c.973G> T (p.Asp325Tyr) single nucleotide variant Likely pathogenic rs764427452 GRCh37 Chromosome 6, 5545481: 5545481
38 FARS2 NM_006567.4(FARS2): c.973G> T (p.Asp325Tyr) single nucleotide variant Likely pathogenic rs764427452 GRCh38 Chromosome 6, 5545248: 5545248
39 FARS2 NM_006567.4(FARS2): c.183C> T (p.Asp61=) single nucleotide variant Benign rs73718082 GRCh38 Chromosome 6, 5368753: 5368753
40 FARS2 NM_006567.4(FARS2): c.183C> T (p.Asp61=) single nucleotide variant Benign rs73718082 GRCh37 Chromosome 6, 5368986: 5368986
41 FARS2 NM_006567.4(FARS2): c.462G> T (p.Ala154=) single nucleotide variant Benign/Likely benign rs150477330 GRCh38 Chromosome 6, 5369032: 5369032
42 FARS2 NM_006567.4(FARS2): c.462G> T (p.Ala154=) single nucleotide variant Benign/Likely benign rs150477330 GRCh37 Chromosome 6, 5369265: 5369265
43 FARS2 NM_006567.4(FARS2): c.468G> A (p.Thr156=) single nucleotide variant Benign rs73718083 GRCh37 Chromosome 6, 5369271: 5369271
44 FARS2 NM_006567.4(FARS2): c.468G> A (p.Thr156=) single nucleotide variant Benign rs73718083 GRCh38 Chromosome 6, 5369038: 5369038
45 FARS2 NM_006567.4(FARS2): c.1344G> A (p.Glu448=) single nucleotide variant Likely benign rs945267016 GRCh37 Chromosome 6, 5771650: 5771650
46 FARS2 NM_006567.4(FARS2): c.1344G> A (p.Glu448=) single nucleotide variant Likely benign rs945267016 GRCh38 Chromosome 6, 5771417: 5771417
47 FARS2 NM_006567.4(FARS2): c.324G> A (p.Pro108=) single nucleotide variant Likely benign rs139618748 GRCh37 Chromosome 6, 5369127: 5369127
48 FARS2 NM_006567.4(FARS2): c.324G> A (p.Pro108=) single nucleotide variant Likely benign rs139618748 GRCh38 Chromosome 6, 5368894: 5368894
49 FARS2 NC_000006.12: g.(?_5368551)_(5369202_?)del deletion Uncertain significance GRCh38 Chromosome 6, 5368551: 5369202
50 FARS2 NM_006567.4(FARS2): c.344A> G (p.Asn115Ser) single nucleotide variant Uncertain significance rs200731335 GRCh38 Chromosome 6, 5368914: 5368914

Expression for Combined Oxidative Phosphorylation Deficiency 14

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 14.

Pathways for Combined Oxidative Phosphorylation Deficiency 14

GO Terms for Combined Oxidative Phosphorylation Deficiency 14

Sources for Combined Oxidative Phosphorylation Deficiency 14

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