MCID: CMB063
MIFTS: 19

Combined Oxidative Phosphorylation Deficiency 25

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Metabolic diseases, Fetal 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 57 75 29 6
Coxpd25 57 59 75
Oxidative Phosphorylation Deficiency, Combined, Type 25 40
Combined Oxidative Phosphorylation Defect Type 25 59

Characteristics:

Orphanet epidemiological data:

59
combined oxidative phosphorylation defect type 25
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 long philtrum

Description from OMIM: 616430

Related Diseases for Combined Oxidative Phosphorylation Deficiency 25

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 25

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 25:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 occasional (7.5%) HP:0000316
2 long philtrum 32 HP:0000343
3 low-set ears 32 HP:0000369
4 wide nasal bridge 32 HP:0000431
5 anteverted nares 32 HP:0000463
6 pectus carinatum 32 HP:0000768
7 growth hormone deficiency 32 HP:0000824
8 global developmental delay 32 HP:0001263
9 cerebellar atrophy 32 HP:0001272
10 generalized hypotonia 32 HP:0001290
11 cerebral atrophy 32 HP:0002059
12 short nose 32 HP:0003196
13 short stature 32 HP:0004322
14 depressed nasal bridge 32 HP:0005280
15 feeding difficulties 32 HP:0011968

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

Variations for Combined Oxidative Phosphorylation Deficiency 25

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

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# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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