COXPD25
MCID: CMB063
MIFTS: 21

Combined Oxidative Phosphorylation Deficiency 25 (COXPD25)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 25

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 25:

Name: Combined Oxidative Phosphorylation Deficiency 25 56 12 73 29 6
Coxpd25 56 12 58 73
Combined Oxidative Phosphorylation Defect Type 25 58 17
Oxidative Phosphorylation Deficiency, Combined, Type 25 39

Characteristics:

Orphanet epidemiological data:

58
combined oxidative phosphorylation defect type 25
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two sibs have been reported (last curated june 2015)


HPO:

31
combined oxidative phosphorylation deficiency 25:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Combined Oxidative Phosphorylation Deficiency 25

UniProtKB/Swiss-Prot : 73 Combined oxidative phosphorylation deficiency 25: A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 25, is also known as coxpd25. An important gene associated with Combined Oxidative Phosphorylation Deficiency 25 is MARS2 (Methionyl-TRNA Synthetase 2, Mitochondrial). Related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MARS2 on chromosome 2q33.1.

More information from OMIM: 616430 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 25

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 25

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 25:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 occasional (7.5%) HP:0000316
2 low-set ears 31 HP:0000369
3 global developmental delay 31 HP:0001263
4 depressed nasal bridge 31 HP:0005280
5 wide nasal bridge 31 HP:0000431
6 pectus carinatum 31 HP:0000768
7 short nose 31 HP:0003196
8 short stature 31 HP:0004322
9 feeding difficulties 31 HP:0011968
10 anteverted nares 31 HP:0000463
11 long philtrum 31 HP:0000343
12 generalized hypotonia 31 HP:0001290
13 growth hormone deficiency 31 HP:0000824
14 cerebellar atrophy 31 HP:0001272
15 cerebral atrophy 31 HP:0002059
16 dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

Head And Neck Nose:
short nose
anteverted nares
broad nasal bridge
flat nasal bridge
thickened ala nasi

Abdomen Gastrointestinal:
feeding difficulties

Endocrine Features:
growth hormone deficiency

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
hypertelorism (1 patient)

Laboratory Abnormalities:
decreased activities of mitochondrial complexes i and iv (in fibroblasts)

Chest External Features:
pectus carinatum

Growth Height:
short stature

Head And Neck Face:
long philtrum

Neurologic Central Nervous System:
cerebellar atrophy
cerebral atrophy
delayed psychomotor development
quadriventricular dilatation seen on mri
thin posterior corpus callosum
more
Growth Other:
poor overall growth

Head And Neck Head:
prominent forehead midline ridge

Clinical features from OMIM:

616430

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 25

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 25

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 25

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 25:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 25 29 MARS2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 25

Publications for Combined Oxidative Phosphorylation Deficiency 25

Articles related to Combined Oxidative Phosphorylation Deficiency 25:

# Title Authors PMID Year
1
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. 56 6
25754315 2015

Variations for Combined Oxidative Phosphorylation Deficiency 25

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 25:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MARS2 NM_138395.4(MARS2):c.550C>T (p.Gln184Ter)SNV Pathogenic 193027 rs794726869 2:198570679-198570679 2:197705955-197705955
2 MARS2 NM_138395.4(MARS2):c.424C>T (p.Arg142Trp)SNV Pathogenic 193028 rs794726870 2:198570553-198570553 2:197705829-197705829

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 25:

73
# Symbol AA change Variation ID SNP ID
1 MARS2 p.Arg142Trp VAR_073858 rs794726870

Expression for Combined Oxidative Phosphorylation Deficiency 25

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 25.

Pathways for Combined Oxidative Phosphorylation Deficiency 25

GO Terms for Combined Oxidative Phosphorylation Deficiency 25

Sources for Combined Oxidative Phosphorylation Deficiency 25

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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