COXPD38
MCID: CMB090
MIFTS: 10

Combined Oxidative Phosphorylation Deficiency 38 (COXPD38)

Categories: Genetic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 38

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 38:

Name: Combined Oxidative Phosphorylation Deficiency 38 58 6
Coxpd38 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
prenatal onset
one patient has been reported (last curated april 2019)


Classifications:



External Ids:

OMIM 58 618378

Summaries for Combined Oxidative Phosphorylation Deficiency 38

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 38, is also known as coxpd38. An important gene associated with Combined Oxidative Phosphorylation Deficiency 38 is MRPS14 (Mitochondrial Ribosomal Protein S14). Affiliated tissues include skeletal muscle.

Description from OMIM: 618378

Related Diseases for Combined Oxidative Phosphorylation Deficiency 38

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 38

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

Growth Other:
failure to thrive
poor overall growth

Neurologic Central Nervous System:
global developmental delay
speech delay
delayed walking
impaired intellectual development

Laboratory Abnormalities:
increased serum lactate
combined oxidative phosphorylation deficiency in various tissues

Muscle Soft Tissue:
abnormal mitochondrial morphology
hypotonia skeletal muscle shows decreased activity of mitochondrial complex iv

Head And Neck Face:
small midface
dysmorphic facial features, mild

Head And Neck Ears:
low-set ears
retroverted ears

Respiratory:
respiratory insufficiency

Cardiovascular Heart:
hypertrophic cardiomyopathy
wolff-parkinson-white syndrome
impaired left ventricular contractility

Metabolic Features:
lactic acidosis

Head And Neck Nose:
flat nasal bridge

Clinical features from OMIM:

618378

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 38

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 38

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 38

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 38

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 38:

42
Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 38

Articles related to Combined Oxidative Phosphorylation Deficiency 38:

# Title Authors Year
1
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. ( 30358850 )
2019

Variations for Combined Oxidative Phosphorylation Deficiency 38

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 38:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRPS14 NM_022100.3(MRPS14): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 174983870: 174983870
2 MRPS14 NM_022100.3(MRPS14): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 175014734: 175014734

Expression for Combined Oxidative Phosphorylation Deficiency 38

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 38.

Pathways for Combined Oxidative Phosphorylation Deficiency 38

GO Terms for Combined Oxidative Phosphorylation Deficiency 38

Sources for Combined Oxidative Phosphorylation Deficiency 38

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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