COXPD38
MCID: CMB090
MIFTS: 15

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 57 74 29 6
Coxpd38 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
combined oxidative phosphorylation deficiency 38:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

MeSH 44 D028361
MedGen 42 CN258275

Summaries for Combined Oxidative Phosphorylation Deficiency 38

UniProtKB/Swiss-Prot : 74 Combined oxidative phosphorylation deficiency 38: An autosomal recessive disorder due to mitochondrial dysfunction and characterized by perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and mental retardation.

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, and related phenotypes are hypertelorism and low-set ears

More information from OMIM: 618378 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 38

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 38

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 38:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 failure to thrive 32 HP:0001508
4 respiratory insufficiency 32 HP:0002093
5 global developmental delay 32 HP:0001263
6 depressed nasal bridge 32 HP:0005280
7 delayed speech and language development 32 HP:0000750
8 abnormal facial shape 32 HP:0001999
9 hypertrophic cardiomyopathy 32 HP:0001639
10 wolff-parkinson-white syndrome 32 HP:0001716
11 increased serum lactate 32 HP:0002151
12 lactic acidosis 32 HP:0003128
13 midface retrusion 32 HP:0011800
14 abnormal mitochondrial morphology 32 HP:0008322
15 delayed ability to walk 32 HP:0031936

Symptoms via clinical synopsis from OMIM:

57
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

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 38:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 38 29 MRPS14

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 38

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

41
Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 38

Articles related to Combined Oxidative Phosphorylation Deficiency 38:

# Title Authors PMID Year
1
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. 8 71
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 GRCh37 Pos GRCh38 Pos
1 MRPS14 NM_022100.3(MRPS14): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic 1:174983870-174983870 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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