COXPD38
MCID: CMB090
MIFTS: 19

Combined Oxidative Phosphorylation Deficiency 38 (COXPD38)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 38

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 38:

Name: Combined Oxidative Phosphorylation Deficiency 38 56 12 73 29 6
Coxpd38 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
combined oxidative phosphorylation deficiency 38:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 38

UniProtKB/Swiss-Prot : 73 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

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MRPS14 on chromosome 1q25.1.

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 low-set ears 31 HP:0000369
3 failure to thrive 31 HP:0001508
4 respiratory insufficiency 31 HP:0002093
5 global developmental delay 31 HP:0001263
6 depressed nasal bridge 31 HP:0005280
7 delayed speech and language development 31 HP:0000750
8 abnormal facial shape 31 HP:0001999
9 midface retrusion 31 HP:0011800
10 hypertrophic cardiomyopathy 31 HP:0001639
11 wolff-parkinson-white syndrome 31 HP:0001716
12 increased serum lactate 31 HP:0002151
13 lactic acidosis 31 HP:0003128
14 abnormal mitochondrial morphology 31 HP:0008322
15 delayed ability to walk 31 HP:0031936
16 decreased activity of mitochondrial complex iv 31 HP:0008347

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
30358850 2019

Variations for Combined Oxidative Phosphorylation Deficiency 38

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 38:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MRPS14 NM_022100.3(MRPS14):c.322C>T (p.Arg108Cys)SNV Pathogenic 625168 rs990763738 1:174983870-174983870 1:175014734-175014734

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 38:

73
# Symbol AA change Variation ID SNP ID
1 MRPS14 p.Arg108Cys VAR_082116 rs990763738

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 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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