COXPD48
MCID: CMB104
MIFTS: 15

Combined Oxidative Phosphorylation Deficiency 48 (COXPD48)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 48

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 48:

Name: Combined Oxidative Phosphorylation Deficiency 48 57 12 72 6
Coxpd48 57 12 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0112112
OMIM® 57 619012
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
MedGen 41 CN283360

Summaries for Combined Oxidative Phosphorylation Deficiency 48

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 48: An autosomal recessive, mitochondrial encephalomyopathy characterized by global developmental delay, microcephaly, failure to thrive, hypotonia, muscle weakness, external ophthalmoplegia, and seizures. Laboratory studies show metabolic acidosis, increased serum lactate, and combined oxidative phosphorylation deficiency in skeletal muscle.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 48, is also known as coxpd48. An important gene associated with Combined Oxidative Phosphorylation Deficiency 48 is NSUN3 (NOP2/Sun RNA Methyltransferase 3). Affiliated tissues include skeletal muscle.

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in NSUN3 on chromosome 3q11.2.

More information from OMIM: 619012 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 48

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 48

Clinical features from OMIM®:

619012 (Updated 05-Apr-2021)

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 48

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 48

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 48

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 48

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 48:

40
Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 48

Articles related to Combined Oxidative Phosphorylation Deficiency 48:

# Title Authors PMID Year
1
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. 57 6
27356879 2016
2
Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures. 6
32671698 2020
3
Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures. 57
32488845 2020

Variations for Combined Oxidative Phosphorylation Deficiency 48

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 48:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NSUN3 NM_022072.5(NSUN3):c.123-615_466+2155del Deletion Pathogenic 978074 GRCh37: 3:93802335-93805448
GRCh38: 3:94083491-94086604
2 NSUN3 NM_022072.5(NSUN3):c.295C>T (p.Arg99Ter) SNV Pathogenic 978075 GRCh37: 3:93803123-93803123
GRCh38: 3:94084279-94084279
3 NSUN3 NM_022072.5(NSUN3):c.454T>A (p.Cys152Ser) SNV Pathogenic 978076 GRCh37: 3:93803282-93803282
GRCh38: 3:94084438-94084438
4 NSUN3 NM_022072.5(NSUN3):c.421G>C (p.Ala141Pro) SNV Pathogenic 978077 GRCh37: 3:93803249-93803249
GRCh38: 3:94084405-94084405

Expression for Combined Oxidative Phosphorylation Deficiency 48

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 48.

Pathways for Combined Oxidative Phosphorylation Deficiency 48

GO Terms for Combined Oxidative Phosphorylation Deficiency 48

Sources for Combined Oxidative Phosphorylation Deficiency 48

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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