COXPD14
MCID: CMB044
MIFTS: 21

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 57 75 29 13 6 73
Coxpd14 57 59 75
Oxidative Phosphorylation Deficiency, Combined, Type 14 40
Combined Oxidative Phosphorylation Defect Type 14 59

Characteristics:

Orphanet epidemiological data:

59
combined oxidative phosphorylation defect type 14
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
combined oxidative phosphorylation deficiency 14:
Mortality/Aging death in infancy
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 14

OMIM : 57 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 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 seizures and eeg abnormality

UniProtKB/Swiss-Prot : 75 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 mitochondrial dna depletion syndrome 4a 11.1

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 14

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 14:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 eeg abnormality 32 HP:0002353
3 hearing impairment 32 occasional (7.5%) HP:0000365
4 global developmental delay 32 HP:0001263
5 microcephaly 32 HP:0000252
6 visual impairment 32 occasional (7.5%) HP:0000505
7 aminoaciduria 32 occasional (7.5%) HP:0003355
8 anemia 32 occasional (7.5%) HP:0001903
9 feeding difficulties 32 HP:0011968
10 myoclonus 32 HP:0001336
11 growth delay 32 HP:0001510
12 thrombocytopenia 32 occasional (7.5%) HP:0001873
13 ventriculomegaly 32 HP:0002119
14 increased serum lactate 32 HP:0002151
15 lactic acidosis 32 HP:0003128
16 cerebellar atrophy 32 HP:0001272
17 generalized hypotonia 32 HP:0001290
18 atrophy/degeneration affecting the brainstem 32 HP:0007366
19 cerebral atrophy 32 HP:0002059
20 gliosis 32 HP:0002171
21 diffuse cerebral atrophy 32 HP:0002506

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 29 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:

75
# 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 97)
# Gene Variation Type Significance SNP ID Assembly Location
1 FARS2 NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys) single nucleotide variant Likely pathogenic rs397514610 GRCh37 Chromosome 6, 5369234: 5369234
2 FARS2 NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys) single nucleotide variant Likely pathogenic rs397514610 GRCh38 Chromosome 6, 5369001: 5369001
3 FARS2 NM_006567.4(FARS2): c.986T> C (p.Ile329Thr) single nucleotide variant Pathogenic rs397514611 GRCh37 Chromosome 6, 5545494: 5545494
4 FARS2 NM_006567.4(FARS2): c.986T> C (p.Ile329Thr) single nucleotide variant Pathogenic rs397514611 GRCh38 Chromosome 6, 5545261: 5545261
5 FARS2 NM_006567.4(FARS2): c.1172A> T (p.Asp391Val) single nucleotide variant Pathogenic rs397514612 GRCh37 Chromosome 6, 5613508: 5613508
6 FARS2 NM_006567.4(FARS2): c.1172A> T (p.Asp391Val) single nucleotide variant Pathogenic rs397514612 GRCh38 Chromosome 6, 5613275: 5613275
7 FARS2 NM_006567.4(FARS2): c.102G> A (p.Ser34=) single nucleotide variant Benign rs113155624 GRCh37 Chromosome 6, 5368905: 5368905
8 FARS2 NM_006567.4(FARS2): c.102G> A (p.Ser34=) single nucleotide variant Benign rs113155624 GRCh38 Chromosome 6, 5368672: 5368672
9 FARS2 NM_006567.4(FARS2): c.339C> T (p.Tyr113=) single nucleotide variant Benign rs41302853 GRCh37 Chromosome 6, 5369142: 5369142
10 FARS2 NM_006567.4(FARS2): c.339C> T (p.Tyr113=) single nucleotide variant Benign rs41302853 GRCh38 Chromosome 6, 5368909: 5368909
11 FARS2 NM_006567.4(FARS2): c.606G> A (p.Lys202=) single nucleotide variant Benign/Likely benign rs17851782 GRCh37 Chromosome 6, 5369409: 5369409
12 FARS2 NM_006567.4(FARS2): c.606G> A (p.Lys202=) single nucleotide variant Benign/Likely benign rs17851782 GRCh38 Chromosome 6, 5369176: 5369176
13 FARS2 NM_006567.4(FARS2): c.737C> T (p.Thr246Met) single nucleotide variant Benign rs116567033 GRCh37 Chromosome 6, 5404899: 5404899
14 FARS2 NM_006567.4(FARS2): c.737C> T (p.Thr246Met) single nucleotide variant Benign rs116567033 GRCh38 Chromosome 6, 5404666: 5404666
15 FARS2 NM_006567.4(FARS2): c.101C> T (p.Ser34Leu) single nucleotide variant Uncertain significance rs148568494 GRCh37 Chromosome 6, 5368904: 5368904
16 FARS2 NM_006567.4(FARS2): c.101C> T (p.Ser34Leu) single nucleotide variant Uncertain significance rs148568494 GRCh38 Chromosome 6, 5368671: 5368671
17 FARS2 NM_006567.4(FARS2): c.170C> G (p.Ser57Cys) single nucleotide variant Benign rs34382405 GRCh38 Chromosome 6, 5368740: 5368740
18 FARS2 NM_006567.4(FARS2): c.170C> G (p.Ser57Cys) single nucleotide variant Benign rs34382405 GRCh37 Chromosome 6, 5368973: 5368973
19 FARS2 NM_006567.4(FARS2): c.506A> T (p.Asp169Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146356199 GRCh37 Chromosome 6, 5369309: 5369309
20 FARS2 NM_006567.4(FARS2): c.506A> T (p.Asp169Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146356199 GRCh38 Chromosome 6, 5369076: 5369076
21 FARS2 NM_006567.4(FARS2): c.550G> A (p.Asp184Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs554931092 GRCh37 Chromosome 6, 5369353: 5369353
22 FARS2 NM_006567.4(FARS2): c.550G> A (p.Asp184Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs554931092 GRCh38 Chromosome 6, 5369120: 5369120
23 FARS2 NM_006567.4(FARS2): c.667C> T (p.Arg223Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202060864 GRCh37 Chromosome 6, 5404829: 5404829
24 FARS2 NM_006567.4(FARS2): c.667C> T (p.Arg223Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202060864 GRCh38 Chromosome 6, 5404596: 5404596
25 FARS2 NM_006567.4(FARS2): c.971A> G (p.Tyr324Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142073519 GRCh37 Chromosome 6, 5545479: 5545479
26 FARS2 NM_006567.4(FARS2): c.971A> G (p.Tyr324Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142073519 GRCh38 Chromosome 6, 5545246: 5545246
27 FARS2 NM_006567.4(FARS2): c.1082C> T (p.Pro361Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs751459058 GRCh37 Chromosome 6, 5613418: 5613418
28 FARS2 NM_006567.4(FARS2): c.1082C> T (p.Pro361Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs751459058 GRCh38 Chromosome 6, 5613185: 5613185
29 FARS2 NM_006567.4(FARS2): c.1220C> T (p.Thr407Met) single nucleotide variant Conflicting interpretations of pathogenicity rs372054960 GRCh37 Chromosome 6, 5771526: 5771526
30 FARS2 NM_006567.4(FARS2): c.1220C> T (p.Thr407Met) single nucleotide variant Conflicting interpretations of pathogenicity rs372054960 GRCh38 Chromosome 6, 5771293: 5771293
31 FARS2 NM_006567.4(FARS2): c.1268G> A (p.Arg423Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148921184 GRCh37 Chromosome 6, 5771574: 5771574
32 FARS2 NM_006567.4(FARS2): c.1268G> A (p.Arg423Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148921184 GRCh38 Chromosome 6, 5771341: 5771341
33 FARS2 NM_006567.4(FARS2): c.973G> T (p.Asp325Tyr) single nucleotide variant Pathogenic rs764427452 GRCh37 Chromosome 6, 5545481: 5545481
34 FARS2 NM_006567.4(FARS2): c.973G> T (p.Asp325Tyr) single nucleotide variant Pathogenic rs764427452 GRCh38 Chromosome 6, 5545248: 5545248
35 FARS2 NM_006567.4(FARS2): c.183C> T (p.Asp61=) single nucleotide variant Benign rs73718082 GRCh38 Chromosome 6, 5368753: 5368753
36 FARS2 NM_006567.4(FARS2): c.183C> T (p.Asp61=) single nucleotide variant Benign rs73718082 GRCh37 Chromosome 6, 5368986: 5368986
37 FARS2 NM_006567.4(FARS2): c.468G> A (p.Thr156=) single nucleotide variant Benign rs73718083 GRCh37 Chromosome 6, 5369271: 5369271
38 FARS2 NM_006567.4(FARS2): c.468G> A (p.Thr156=) single nucleotide variant Benign rs73718083 GRCh38 Chromosome 6, 5369038: 5369038
39 FARS2 NM_006567.4(FARS2): c.324G> A (p.Pro108=) single nucleotide variant Likely benign rs139618748 GRCh37 Chromosome 6, 5369127: 5369127
40 FARS2 NM_006567.4(FARS2): c.324G> A (p.Pro108=) single nucleotide variant Likely benign rs139618748 GRCh38 Chromosome 6, 5368894: 5368894
41 FARS2 NC_000006.12: g.(?_5368551)_(5369202_?)del deletion Uncertain significance GRCh38 Chromosome 6, 5368551: 5369202
42 FARS2 NM_006567.4(FARS2): c.344A> G (p.Asn115Ser) single nucleotide variant Uncertain significance rs200731335 GRCh37 Chromosome 6, 5369147: 5369147
43 FARS2 NM_006567.4(FARS2): c.344A> G (p.Asn115Ser) single nucleotide variant Uncertain significance rs200731335 GRCh38 Chromosome 6, 5368914: 5368914
44 FARS2 NM_006567.4(FARS2): c.613-4A> G single nucleotide variant Likely benign GRCh38 Chromosome 6, 5404538: 5404538
45 FARS2 NM_006567.4(FARS2): c.613-4A> G single nucleotide variant Likely benign GRCh37 Chromosome 6, 5404771: 5404771
46 FARS2 NM_006567.4(FARS2): c.407C> A (p.Pro136His) single nucleotide variant Likely benign rs199863563 GRCh38 Chromosome 6, 5368977: 5368977
47 FARS2 NM_006567.4(FARS2): c.407C> A (p.Pro136His) single nucleotide variant Likely benign rs199863563 GRCh37 Chromosome 6, 5369210: 5369210
48 FARS2 NM_006567.4(FARS2): c.497C> T (p.Ala166Val) single nucleotide variant Uncertain significance rs538791135 GRCh37 Chromosome 6, 5369300: 5369300
49 FARS2 NM_006567.4(FARS2): c.497C> T (p.Ala166Val) single nucleotide variant Uncertain significance rs538791135 GRCh38 Chromosome 6, 5369067: 5369067
50 FARS2 NM_006567.4(FARS2): c.563A> G (p.Tyr188Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 5369133: 5369133

Expression for Combined Oxidative Phosphorylation Deficiency 14

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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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