COXPD24
MCID: CMB064
MIFTS: 25

Combined Oxidative Phosphorylation Deficiency 24 (COXPD24)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 24

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 24:

Name: Combined Oxidative Phosphorylation Deficiency 24 58 76 30 6 74
Coxpd24 58 60 76
Combined Oxidative Phosphorylation Defect Type 24 60 17
Oxidative Phosphorylation Deficiency, Combined, Type 24 41

Characteristics:

Orphanet epidemiological data:

60
combined oxidative phosphorylation defect type 24
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: adolescent,adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype and severity
one patient (patient a) and 2 sibs have been reported (last curated february 2015)


HPO:

33
combined oxidative phosphorylation deficiency 24:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 24

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 24: An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 24, also known as coxpd24, is related to mitochondrial dna depletion syndrome 4a, and has symptoms including facial paresis An important gene associated with Combined Oxidative Phosphorylation Deficiency 24 is NARS2 (Asparaginyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include skeletal muscle and bone, and related phenotypes are seizures and dysarthria

OMIM : 58 Combined oxidative phosphorylation deficiency-24 is an autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe infantile-onset neurodegenerative disorder (Vanlander et al., 2015; Sofou et al., 2015). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (616239)

Related Diseases for Combined Oxidative Phosphorylation Deficiency 24

Diseases related to Combined Oxidative Phosphorylation Deficiency 24 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 4a 11.2

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 24

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 24:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 dysarthria 33 occasional (7.5%) HP:0001260
3 intellectual disability, mild 33 occasional (7.5%) HP:0001256
4 agenesis of corpus callosum 33 HP:0001274
5 ptosis 33 HP:0000508
6 nystagmus 33 HP:0000639
7 spasticity 33 HP:0001257
8 facial palsy 33 HP:0010628
9 microcephaly 33 HP:0000252
10 optic atrophy 33 HP:0000648
11 myopathy 33 HP:0003198
12 skeletal muscle atrophy 33 HP:0003202
13 feeding difficulties 33 HP:0011968
14 increased serum lactate 33 HP:0002151
15 neurodegeneration 33 HP:0002180
16 proximal muscle weakness 33 HP:0003701
17 cerebellar atrophy 33 HP:0001272
18 generalized hypotonia 33 HP:0001290
19 neuronal loss in central nervous system 33 HP:0002529
20 gliosis 33 HP:0002171
21 metabolic alkalosis 33 HP:0200114
22 focal segmental glomerulosclerosis 33 HP:0000097
23 cerebral visual impairment 33 HP:0100704
24 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
myopathy
muscle atrophy
muscle weakness, proximal
combined oxidative phosphorylation deficiency, complexes i and iv
hypotonia (patient a)
more
Abdomen Gastrointestinal:
feeding difficulties (patient a)

Head And Neck Eyes:
nystagmus (patient a)
optic atrophy (patient a)
ptosis (patient a)
cortical blindness (patient a)

Abdomen Liver:
fatty changes (patient a)

Metabolic Features:
hypochloremia metabolic alkalosis (patient a)

Head And Neck Face:
facial muscle weakness

Head And Neck Head:
microcephaly (patient a)

Neurologic Central Nervous System:
spasticity (patient a)
dysarthria (1 patient)
intellectual disability, mild (1 patient)
seizures (2 patients)
delayed psychomotor development, profound (patient a)
more
Genitourinary Kidneys:
tubulopathy (patient a)
focal segmental glomerulosclerosis (patient a)

Laboratory Abnormalities:
increased serum creatine kinase (patient a)
increased serum lactate (patient a)

Clinical features from OMIM:

616239

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 24:


facial paresis

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 24

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 24

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 24

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 24:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 24 30 NARS2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 24

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 24:

42
Skeletal Muscle, Bone

Publications for Combined Oxidative Phosphorylation Deficiency 24

Articles related to Combined Oxidative Phosphorylation Deficiency 24:

# Title Authors Year
1
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. ( 25629079 )
2015
2
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). ( 25385316 )
2015
3
Phenotypic and genotypic variability in Alpers syndrome. ( 22237560 )
2012

Variations for Combined Oxidative Phosphorylation Deficiency 24

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 24:

76
# Symbol AA change Variation ID SNP ID
1 NARS2 p.Pro214Leu VAR_073250 rs730882155

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 24:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NARS2 NM_024678.5(NARS2): c.822G> C (p.Gln274His) single nucleotide variant Pathogenic rs730882154 GRCh38 Chromosome 11, 78493063: 78493063
2 NARS2 NM_024678.5(NARS2): c.822G> C (p.Gln274His) single nucleotide variant Pathogenic rs730882154 GRCh37 Chromosome 11, 78204109: 78204109
3 NARS2 NM_024678.5(NARS2): c.641C> T (p.Pro214Leu) single nucleotide variant Pathogenic rs730882155 GRCh38 Chromosome 11, 78528890: 78528890
4 NARS2 NM_024678.5(NARS2): c.641C> T (p.Pro214Leu) single nucleotide variant Pathogenic rs730882155 GRCh37 Chromosome 11, 78239936: 78239936
5 NARS2 NM_024678.5(NARS2): c.595-6T> G single nucleotide variant not provided rs774848576 GRCh37 Chromosome 11, 78239988: 78239988
6 NARS2 NM_024678.5(NARS2): c.595-6T> G single nucleotide variant not provided rs774848576 GRCh38 Chromosome 11, 78528942: 78528942

Expression for Combined Oxidative Phosphorylation Deficiency 24

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 24.

Pathways for Combined Oxidative Phosphorylation Deficiency 24

GO Terms for Combined Oxidative Phosphorylation Deficiency 24

Sources for Combined Oxidative Phosphorylation Deficiency 24

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11 DGIdb
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20 FMA
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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