COXPD24
MCID: CMB064
MIFTS: 24

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 57 75 29 6 73
Coxpd24 57 59 75
Oxidative Phosphorylation Deficiency, Combined, Type 24 40
Combined Oxidative Phosphorylation Defect Type 24 59

Characteristics:

Orphanet epidemiological data:

59
combined oxidative phosphorylation defect type 24
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: adolescent,adult;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
combined oxidative phosphorylation deficiency 24:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 24

UniProtKB/Swiss-Prot : 75 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 agenesis of corpus callosum and ptosis

OMIM : 57 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 11.1

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 24

Symptoms via clinical synopsis from OMIM:

57
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)

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


Clinical features from OMIM:

616239

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 24:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 ptosis 32 HP:0000508
3 nystagmus 32 HP:0000639
4 seizures 32 occasional (7.5%) HP:0001250
5 spasticity 32 HP:0001257
6 dysarthria 32 occasional (7.5%) HP:0001260
7 facial palsy 32 HP:0010628
8 microcephaly 32 HP:0000252
9 optic atrophy 32 HP:0000648
10 intellectual disability, mild 32 occasional (7.5%) HP:0001256
11 myopathy 32 HP:0003198
12 elevated serum creatine phosphokinase 32 HP:0003236
13 skeletal muscle atrophy 32 HP:0003202
14 feeding difficulties 32 HP:0011968
15 increased serum lactate 32 HP:0002151
16 neurodegeneration 32 HP:0002180
17 proximal muscle weakness 32 HP:0003701
18 cerebellar atrophy 32 HP:0001272
19 generalized hypotonia 32 HP:0001290
20 neuronal loss in central nervous system 32 HP:0002529
21 gliosis 32 HP:0002171
22 metabolic alkalosis 32 HP:0200114
23 focal segmental glomerulosclerosis 32 HP:0000097
24 cerebral visual impairment 32 HP:0100704

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 29 NARS2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 24

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

41
Skeletal Muscle, Bone

Publications for Combined Oxidative Phosphorylation Deficiency 24

Variations for Combined Oxidative Phosphorylation Deficiency 24

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

75
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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