COXPD25
MCID: CMB063
MIFTS: 19

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 58 76 30 6
Coxpd25 58 60 76
Combined Oxidative Phosphorylation Defect Type 25 60 17
Oxidative Phosphorylation Deficiency, Combined, Type 25 41

Characteristics:

Orphanet epidemiological data:

60
combined oxidative phosphorylation defect type 25
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
combined oxidative phosphorylation deficiency 25:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 25

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 616430

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:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 occasional (7.5%) HP:0000316
2 low-set ears 33 HP:0000369
3 global developmental delay 33 HP:0001263
4 depressed nasal bridge 33 HP:0005280
5 wide nasal bridge 33 HP:0000431
6 pectus carinatum 33 HP:0000768
7 short nose 33 HP:0003196
8 anteverted nares 33 HP:0000463
9 short stature 33 HP:0004322
10 long philtrum 33 HP:0000343
11 feeding difficulties 33 HP:0011968
12 cerebellar atrophy 33 HP:0001272
13 generalized hypotonia 33 HP:0001290
14 cerebral atrophy 33 HP:0002059
15 growth hormone deficiency 33 HP:0000824
16 dilatation 33 HP:0002617

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

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

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
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

Abdomen Gastrointestinal:
feeding difficulties

Endocrine Features:
growth hormone deficiency

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 30 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 Year
1
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. ( 25754315 )
2015

Variations for Combined Oxidative Phosphorylation Deficiency 25

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

76
# Symbol AA change Variation ID SNP ID
1 MARS2 p.Arg142Trp VAR_073858 rs794726870

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 25:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MARS2 NM_138395.3(MARS2): c.550C> T (p.Gln184Ter) single nucleotide variant Pathogenic rs794726869 GRCh37 Chromosome 2, 198570679: 198570679
2 MARS2 NM_138395.3(MARS2): c.550C> T (p.Gln184Ter) single nucleotide variant Pathogenic rs794726869 GRCh38 Chromosome 2, 197705955: 197705955
3 MARS2 NM_138395.3(MARS2): c.424C> T (p.Arg142Trp) single nucleotide variant Pathogenic rs794726870 GRCh37 Chromosome 2, 198570553: 198570553
4 MARS2 NM_138395.3(MARS2): c.424C> T (p.Arg142Trp) single nucleotide variant Pathogenic rs794726870 GRCh38 Chromosome 2, 197705829: 197705829

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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