MCID: CMB044
MIFTS: 21

Combined Oxidative Phosphorylation Deficiency 14

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 microcephaly and hearing impairment

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 10.9

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

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 73)
# 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.101C> T (p.Ser34Leu) single nucleotide variant Uncertain significance rs148568494 GRCh37 Chromosome 6, 5368904: 5368904
8 FARS2 NM_006567.4(FARS2): c.101C> T (p.Ser34Leu) single nucleotide variant Uncertain significance rs148568494 GRCh38 Chromosome 6, 5368671: 5368671
9 FARS2 NM_006567.4(FARS2): c.170C> G (p.Ser57Cys) single nucleotide variant Benign rs34382405 GRCh38 Chromosome 6, 5368740: 5368740
10 FARS2 NM_006567.4(FARS2): c.170C> G (p.Ser57Cys) single nucleotide variant Benign rs34382405 GRCh37 Chromosome 6, 5368973: 5368973
11 FARS2 NM_006567.4(FARS2): c.506A> T (p.Asp169Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146356199 GRCh37 Chromosome 6, 5369309: 5369309
12 FARS2 NM_006567.4(FARS2): c.506A> T (p.Asp169Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146356199 GRCh38 Chromosome 6, 5369076: 5369076
13 FARS2 NM_006567.4(FARS2): c.550G> A (p.Asp184Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs554931092 GRCh37 Chromosome 6, 5369353: 5369353
14 FARS2 NM_006567.4(FARS2): c.550G> A (p.Asp184Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs554931092 GRCh38 Chromosome 6, 5369120: 5369120
15 FARS2 NM_006567.4(FARS2): c.667C> T (p.Arg223Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202060864 GRCh37 Chromosome 6, 5404829: 5404829
16 FARS2 NM_006567.4(FARS2): c.667C> T (p.Arg223Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202060864 GRCh38 Chromosome 6, 5404596: 5404596
17 FARS2 NM_006567.4(FARS2): c.971A> G (p.Tyr324Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142073519 GRCh37 Chromosome 6, 5545479: 5545479
18 FARS2 NM_006567.4(FARS2): c.971A> G (p.Tyr324Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142073519 GRCh38 Chromosome 6, 5545246: 5545246
19 FARS2 NM_006567.4(FARS2): c.1082C> T (p.Pro361Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs751459058 GRCh37 Chromosome 6, 5613418: 5613418
20 FARS2 NM_006567.4(FARS2): c.1082C> T (p.Pro361Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs751459058 GRCh38 Chromosome 6, 5613185: 5613185
21 FARS2 NM_006567.4(FARS2): c.1268G> A (p.Arg423Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148921184 GRCh37 Chromosome 6, 5771574: 5771574
22 FARS2 NM_006567.4(FARS2): c.1268G> A (p.Arg423Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148921184 GRCh38 Chromosome 6, 5771341: 5771341
23 FARS2 NM_006567.4(FARS2): c.973G> T (p.Asp325Tyr) single nucleotide variant Pathogenic rs764427452 GRCh37 Chromosome 6, 5545481: 5545481
24 FARS2 NM_006567.4(FARS2): c.973G> T (p.Asp325Tyr) single nucleotide variant Pathogenic rs764427452 GRCh38 Chromosome 6, 5545248: 5545248
25 FARS2 NM_006567.4(FARS2): c.183C> T (p.Asp61=) single nucleotide variant Benign rs73718082 GRCh38 Chromosome 6, 5368753: 5368753
26 FARS2 NM_006567.4(FARS2): c.183C> T (p.Asp61=) single nucleotide variant Benign rs73718082 GRCh37 Chromosome 6, 5368986: 5368986
27 FARS2 NM_006567.4(FARS2): c.468G> A (p.Thr156=) single nucleotide variant Benign rs73718083 GRCh37 Chromosome 6, 5369271: 5369271
28 FARS2 NM_006567.4(FARS2): c.468G> A (p.Thr156=) single nucleotide variant Benign rs73718083 GRCh38 Chromosome 6, 5369038: 5369038
29 FARS2 NM_006567.4(FARS2): c.324G> A (p.Pro108=) single nucleotide variant Likely benign rs139618748 GRCh37 Chromosome 6, 5369127: 5369127
30 FARS2 NM_006567.4(FARS2): c.324G> A (p.Pro108=) single nucleotide variant Likely benign rs139618748 GRCh38 Chromosome 6, 5368894: 5368894
31 FARS2 NC_000006.12: g.(?_5368551)_(5369202_?)del deletion Uncertain significance GRCh38 Chromosome 6, 5368551: 5369202
32 FARS2 NM_006567.4(FARS2): c.344A> G (p.Asn115Ser) single nucleotide variant Uncertain significance rs200731335 GRCh38 Chromosome 6, 5368914: 5368914
33 FARS2 NM_006567.4(FARS2): c.344A> G (p.Asn115Ser) single nucleotide variant Uncertain significance rs200731335 GRCh37 Chromosome 6, 5369147: 5369147
34 FARS2 NM_006567.4(FARS2): c.613-4A> G single nucleotide variant Likely benign GRCh38 Chromosome 6, 5404538: 5404538
35 FARS2 NM_006567.4(FARS2): c.613-4A> G single nucleotide variant Likely benign GRCh37 Chromosome 6, 5404771: 5404771
36 FARS2 NM_006567.4(FARS2): c.407C> A (p.Pro136His) single nucleotide variant Likely benign rs199863563 GRCh37 Chromosome 6, 5369210: 5369210
37 FARS2 NM_006567.4(FARS2): c.407C> A (p.Pro136His) single nucleotide variant Likely benign rs199863563 GRCh38 Chromosome 6, 5368977: 5368977
38 FARS2 NM_006567.4(FARS2): c.497C> T (p.Ala166Val) single nucleotide variant Uncertain significance rs538791135 GRCh37 Chromosome 6, 5369300: 5369300
39 FARS2 NM_006567.4(FARS2): c.497C> T (p.Ala166Val) single nucleotide variant Uncertain significance rs538791135 GRCh38 Chromosome 6, 5369067: 5369067
40 FARS2 NM_006567.4(FARS2): c.563A> G (p.Tyr188Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 5369133: 5369133
41 FARS2 NM_006567.4(FARS2): c.563A> G (p.Tyr188Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 5369366: 5369366
42 FARS2 NM_006567.4(FARS2): c.750C> A (p.Leu250=) single nucleotide variant Likely benign rs951916099 GRCh37 Chromosome 6, 5404912: 5404912
43 FARS2 NM_006567.4(FARS2): c.750C> A (p.Leu250=) single nucleotide variant Likely benign rs951916099 GRCh38 Chromosome 6, 5404679: 5404679
44 FARS2 NM_006567.4(FARS2): c.1308C> G (p.Ala436=) single nucleotide variant Likely benign rs965780712 GRCh37 Chromosome 6, 5771614: 5771614
45 FARS2 NM_006567.4(FARS2): c.1308C> G (p.Ala436=) single nucleotide variant Likely benign rs965780712 GRCh38 Chromosome 6, 5771381: 5771381
46 FARS2 NM_006567.4(FARS2): c.676C> T (p.His226Tyr) single nucleotide variant Likely benign rs201991648 GRCh38 Chromosome 6, 5404605: 5404605
47 FARS2 NM_006567.4(FARS2): c.676C> T (p.His226Tyr) single nucleotide variant Likely benign rs201991648 GRCh37 Chromosome 6, 5404838: 5404838
48 FARS2 NM_006567.4(FARS2): c.754G> A (p.Ala252Thr) single nucleotide variant Uncertain significance rs371390356 GRCh38 Chromosome 6, 5404683: 5404683
49 FARS2 NM_006567.4(FARS2): c.754G> A (p.Ala252Thr) single nucleotide variant Uncertain significance rs371390356 GRCh37 Chromosome 6, 5404916: 5404916
50 FARS2 NM_006567.4(FARS2): c.919C> T (p.Arg307Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs148620369 GRCh38 Chromosome 6, 5545194: 5545194

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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