MCID: CMB071
MIFTS: 19

Combined Oxidative Phosphorylation Deficiency 27

Categories: Genetic diseases, Neuronal diseases, Metabolic 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 57 75 29 6
Coxpd27 57 59 75
Combined Oxidative Phosphorylation Defect Type 27 59

Characteristics:

OMIM:

57
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:

32
combined oxidative phosphorylation deficiency 27:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 27

UniProtKB/Swiss-Prot : 75 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 global developmental delay and areflexia

Description from OMIM: 616672

Related Diseases for Combined Oxidative Phosphorylation Deficiency 27

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 27

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 27:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 areflexia 32 HP:0001284
3 dystonia 32 HP:0001332
4 myoclonus 32 HP:0001336
5 microvesicular hepatic steatosis 32 HP:0001414
6 failure to thrive 32 HP:0001508
7 cerebral atrophy 32 HP:0002059
8 chorea 32 HP:0002072
9 hypoplasia of the corpus callosum 32 HP:0002079
10 status epilepticus 32 HP:0002133
11 increased serum lactate 32 occasional (7.5%) HP:0002151
12 opisthotonus 32 HP:0002179
13 postnatal microcephaly 32 HP:0005484
14 severe muscular hypotonia 32 HP:0006829
15 feeding difficulties 32 HP:0011968
16 epileptic encephalopathy 32 HP:0200134

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 29 CARS2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 27

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

41
Eye

Publications for Combined Oxidative Phosphorylation Deficiency 27

Variations for Combined Oxidative Phosphorylation Deficiency 27

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

75
# 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 102)
# 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 GRCh38 Chromosome 13, 110647220: 110647220
10 CARS2 NM_024537.3(CARS2): c.1074C> T (p.Ser358=) single nucleotide variant Likely benign rs143638615 GRCh37 Chromosome 13, 111299567: 111299567
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 GRCh38 Chromosome 13, 110641551: 110641551
18 CARS2 NM_024537.3(CARS2): c.1681A> G (p.Lys561Glu) single nucleotide variant Benign/Likely benign rs188068027 GRCh37 Chromosome 13, 111293898: 111293898
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 GRCh38 Chromosome 13, 110641549: 110641549
42 CARS2 NM_024537.3(CARS2): c.1683dup (p.Ser562Ilefs) duplication Likely benign 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

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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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