COXPD27
MCID: CMB071
MIFTS: 20

Combined Oxidative Phosphorylation Deficiency 27 (COXPD27)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 27

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 27:

Name: Combined Oxidative Phosphorylation Deficiency 27 58 76 30 6
Coxpd27 58 60 76
Combined Oxidative Phosphorylation Defect Type 27 60 17

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated december 2015)
family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood
patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period


HPO:

33
combined oxidative phosphorylation deficiency 27:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 27

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 27: An autosomal recessive mitochondrial disorder characterized by multiple mitochondrial respiratory-chain-complex deficiencies causing neurological regression, progressive cognitive decline, complex movement disorder, epileptic encephalopathy, progressive spastic tetraparesis, and progressive impairment of vision and hearing.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 27, is also known as coxpd27. An important gene associated with Combined Oxidative Phosphorylation Deficiency 27 is CARS2 (Cysteinyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include eye, and related phenotypes are increased serum lactate and failure to thrive

Description from OMIM: 616672

Related Diseases for Combined Oxidative Phosphorylation Deficiency 27

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 27

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 27:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 increased serum lactate 33 occasional (7.5%) HP:0002151
2 failure to thrive 33 HP:0001508
3 chorea 33 HP:0002072
4 global developmental delay 33 HP:0001263
5 visual impairment 33 HP:0000505
6 feeding difficulties 33 HP:0011968
7 myoclonus 33 HP:0001336
8 dystonia 33 HP:0001332
9 cerebellar hypoplasia 33 HP:0001321
10 epileptic encephalopathy 33 HP:0200134
11 status epilepticus 33 HP:0002133
12 areflexia 33 HP:0001284
13 severe muscular hypotonia 33 HP:0006829
14 hypoplasia of the corpus callosum 33 HP:0002079
15 cerebral atrophy 33 HP:0002059
16 postnatal microcephaly 33 HP:0005484
17 tetraparesis 33 HP:0002273
18 opisthotonus 33 HP:0002179
19 microvesicular hepatic steatosis 33 HP:0001414
20 multifocal epileptiform discharges 33 HP:0010841

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
cerebral atrophy
myoclonic epilepsy
white matter abnormalities
delayed psychomotor development (patient b)
cerebellar hypoplasia (patient b)
more
Growth Other:
failure to thrive (patient b)

Head And Neck Ears:
hearing impairment, progressive (family a)

Abdomen Liver:
combined mitochondrial respiratory chain deficiency (patient b)
microvesicular steatosis (patient b)

Muscle Soft Tissue:
hypotonia, severe (patient b)
lack of antigravity movements (patient b)
decreased mitochondrial respiratory chain enzyme activity (patient b)

Laboratory Abnormalities:
increased serum lactate (in some patients)

Head And Neck Head:
microcephaly, postnatal (patient b)

Head And Neck Eyes:
visual impairment, progressive (family a)
oculogyric crises (patient b)
no purposeful eye movements (patient b)

Abdomen Gastrointestinal:
feeding difficulties (patient b)

Neurologic Peripheral Nervous System:
areflexia (patient b)

Clinical features from OMIM:

616672

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 27

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 27

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 27

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 27:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 27 30 CARS2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 27

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 27:

42
Eye

Publications for Combined Oxidative Phosphorylation Deficiency 27

Articles related to Combined Oxidative Phosphorylation Deficiency 27:

# Title Authors Year
1
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. ( 25787132 )
2015
2
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. ( 25361775 )
2014

Variations for Combined Oxidative Phosphorylation Deficiency 27

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 27:

76
# Symbol AA change Variation ID SNP ID
1 CARS2 p.Pro251Leu VAR_075669 rs557671802

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 27:

6 (show top 50) (show all 130)
# Gene Variation Type Significance SNP ID Assembly Location
1 CARS2 NM_024537.3(CARS2): c.649_651delGAG (p.Glu217del) deletion Pathogenic rs753472937 GRCh38 Chromosome 13, 110683055: 110683057
2 CARS2 NM_024537.3(CARS2): c.649_651delGAG (p.Glu217del) deletion Pathogenic rs753472937 GRCh37 Chromosome 13, 111335402: 111335404
3 CARS2 NM_024537.3(CARS2): c.752C> T (p.Pro251Leu) single nucleotide variant Pathogenic rs557671802 GRCh38 Chromosome 13, 110677007: 110677007
4 CARS2 NM_024537.3(CARS2): c.752C> T (p.Pro251Leu) single nucleotide variant Pathogenic rs557671802 GRCh37 Chromosome 13, 111329354: 111329354
5 CARS2 NM_024537.3(CARS2): c.655G> A (p.Ala219Thr) single nucleotide variant Likely pathogenic rs727505361 GRCh38 Chromosome 13, 110683051: 110683051
6 CARS2 NM_024537.3(CARS2): c.655G> A (p.Ala219Thr) single nucleotide variant Likely pathogenic rs727505361 GRCh37 Chromosome 13, 111335398: 111335398
7 CARS2 NM_024537.3(CARS2): c.1531G> A (p.Ala511Thr) single nucleotide variant Benign/Likely benign rs147216443 GRCh37 Chromosome 13, 111294754: 111294754
8 CARS2 NM_024537.3(CARS2): c.1531G> A (p.Ala511Thr) single nucleotide variant Benign/Likely benign rs147216443 GRCh38 Chromosome 13, 110642407: 110642407
9 CARS2 NM_024537.3(CARS2): c.1074C> T (p.Ser358=) single nucleotide variant Likely benign rs143638615 GRCh37 Chromosome 13, 111299567: 111299567
10 CARS2 NM_024537.3(CARS2): c.1074C> T (p.Ser358=) single nucleotide variant Likely benign rs143638615 GRCh38 Chromosome 13, 110647220: 110647220
11 CARS2 NM_024537.3(CARS2): c.647G> A (p.Gly216Glu) single nucleotide variant Benign rs146773721 GRCh37 Chromosome 13, 111335406: 111335406
12 CARS2 NM_024537.3(CARS2): c.647G> A (p.Gly216Glu) single nucleotide variant Benign rs146773721 GRCh38 Chromosome 13, 110683059: 110683059
13 CARS2 NM_024537.3(CARS2): c.586G> A (p.Asp196Asn) single nucleotide variant Benign rs140082252 GRCh37 Chromosome 13, 111335467: 111335467
14 CARS2 NM_024537.3(CARS2): c.586G> A (p.Asp196Asn) single nucleotide variant Benign rs140082252 GRCh38 Chromosome 13, 110683120: 110683120
15 CARS2 NM_024537.3(CARS2): c.1054+8G> A single nucleotide variant Benign/Likely benign rs374859 GRCh38 Chromosome 13, 110651026: 110651026
16 CARS2 NM_024537.3(CARS2): c.1054+8G> A single nucleotide variant Benign/Likely benign rs374859 GRCh37 Chromosome 13, 111303373: 111303373
17 CARS2 NM_024537.3(CARS2): c.1681A> G (p.Lys561Glu) single nucleotide variant Benign/Likely benign rs188068027 GRCh37 Chromosome 13, 111293898: 111293898
18 CARS2 NM_024537.3(CARS2): c.1681A> G (p.Lys561Glu) single nucleotide variant Benign/Likely benign rs188068027 GRCh38 Chromosome 13, 110641551: 110641551
19 CARS2 NM_024537.3(CARS2): c.564G> A (p.Thr188=) single nucleotide variant Benign/Likely benign rs76988055 GRCh37 Chromosome 13, 111340075: 111340075
20 CARS2 NM_024537.3(CARS2): c.564G> A (p.Thr188=) single nucleotide variant Benign/Likely benign rs76988055 GRCh38 Chromosome 13, 110687728: 110687728
21 CARS2 NM_024537.3(CARS2): c.1317+10C> T single nucleotide variant Benign rs141996297 GRCh37 Chromosome 13, 111298304: 111298304
22 CARS2 NM_024537.3(CARS2): c.1317+10C> T single nucleotide variant Benign rs141996297 GRCh38 Chromosome 13, 110645957: 110645957
23 CARS2 NM_024537.3(CARS2): c.1132C> T (p.Arg378Cys) single nucleotide variant Benign rs79081036 GRCh37 Chromosome 13, 111299509: 111299509
24 CARS2 NM_024537.3(CARS2): c.1132C> T (p.Arg378Cys) single nucleotide variant Benign rs79081036 GRCh38 Chromosome 13, 110647162: 110647162
25 CARS2 NM_024537.3(CARS2): c.572-3_572-2delCA deletion Benign rs201758363 GRCh38 Chromosome 13, 110683136: 110683137
26 CARS2 NM_024537.3(CARS2): c.572-3_572-2delCA deletion Benign rs201758363 GRCh37 Chromosome 13, 111335483: 111335484
27 CARS2 NM_024537.3(CARS2): c.1623+10G> A single nucleotide variant Likely benign rs368020365 GRCh38 Chromosome 13, 110642305: 110642305
28 CARS2 NM_024537.3(CARS2): c.1623+10G> A single nucleotide variant Likely benign rs368020365 GRCh37 Chromosome 13, 111294652: 111294652
29 CARS2 NM_024537.3(CARS2): c.1059C> T (p.Ile353=) single nucleotide variant Benign rs200079151 GRCh38 Chromosome 13, 110647235: 110647235
30 CARS2 NM_024537.3(CARS2): c.1059C> T (p.Ile353=) single nucleotide variant Benign rs200079151 GRCh37 Chromosome 13, 111299582: 111299582
31 CARS2 NM_024537.3(CARS2): c.1011C> T (p.Pro337=) single nucleotide variant Likely benign rs142857490 GRCh38 Chromosome 13, 110651077: 110651077
32 CARS2 NM_024537.3(CARS2): c.1011C> T (p.Pro337=) single nucleotide variant Likely benign rs142857490 GRCh37 Chromosome 13, 111303424: 111303424
33 CARS2 NM_024537.3(CARS2): c.870C> T (p.Cys290=) single nucleotide variant Likely benign rs200515246 GRCh38 Chromosome 13, 110667389: 110667389
34 CARS2 NM_024537.3(CARS2): c.870C> T (p.Cys290=) single nucleotide variant Likely benign rs200515246 GRCh37 Chromosome 13, 111319736: 111319736
35 CARS2 NM_024537.3(CARS2): c.574A> G (p.Asn192Asp) single nucleotide variant Uncertain significance rs150286306 GRCh38 Chromosome 13, 110683132: 110683132
36 CARS2 NM_024537.3(CARS2): c.574A> G (p.Asn192Asp) single nucleotide variant Uncertain significance rs150286306 GRCh37 Chromosome 13, 111335479: 111335479
37 CARS2 NM_024537.3(CARS2): c.302G> A (p.Arg101Gln) single nucleotide variant Likely benign rs112070421 GRCh38 Chromosome 13, 110701529: 110701529
38 CARS2 NM_024537.3(CARS2): c.302G> A (p.Arg101Gln) single nucleotide variant Likely benign rs112070421 GRCh37 Chromosome 13, 111353876: 111353876
39 CARS2 NM_024537.3(CARS2): c.224+10G> T single nucleotide variant Likely benign rs569593326 GRCh38 Chromosome 13, 110705860: 110705860
40 CARS2 NM_024537.3(CARS2): c.224+10G> T single nucleotide variant Likely benign rs569593326 GRCh37 Chromosome 13, 111358207: 111358207
41 CARS2 NM_024537.3(CARS2): c.1683dup (p.Ser562Ilefs) duplication Likely benign rs575601185 GRCh38 Chromosome 13, 110641549: 110641549
42 CARS2 NM_024537.3(CARS2): c.1683dup (p.Ser562Ilefs) duplication Likely benign rs575601185 GRCh37 Chromosome 13, 111293896: 111293896
43 CARS2 NM_024537.3(CARS2): c.1489G> A (p.Val497Ile) single nucleotide variant Benign/Likely benign rs146355429 GRCh37 Chromosome 13, 111294796: 111294796
44 CARS2 NM_024537.3(CARS2): c.1489G> A (p.Val497Ile) single nucleotide variant Benign/Likely benign rs146355429 GRCh38 Chromosome 13, 110642449: 110642449
45 CARS2 NM_024537.3(CARS2): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs368410574 GRCh38 Chromosome 13, 110667370: 110667370
46 CARS2 NM_024537.3(CARS2): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs368410574 GRCh37 Chromosome 13, 111319717: 111319717
47 CARS2 NM_024537.3(CARS2): c.85C> T (p.Pro29Ser) single nucleotide variant Uncertain significance rs934745570 GRCh37 Chromosome 13, 111358356: 111358356
48 CARS2 NM_024537.3(CARS2): c.85C> T (p.Pro29Ser) single nucleotide variant Uncertain significance rs934745570 GRCh38 Chromosome 13, 110706009: 110706009
49 CARS2 NM_024537.3(CARS2): c.64G> A (p.Gly22Arg) single nucleotide variant Benign rs534818713 GRCh37 Chromosome 13, 111358377: 111358377
50 CARS2 NM_024537.3(CARS2): c.64G> A (p.Gly22Arg) single nucleotide variant Benign rs534818713 GRCh38 Chromosome 13, 110706030: 110706030

Expression for Combined Oxidative Phosphorylation Deficiency 27

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 27.

Pathways for Combined Oxidative Phosphorylation Deficiency 27

GO Terms for Combined Oxidative Phosphorylation Deficiency 27

Sources for Combined Oxidative Phosphorylation Deficiency 27

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