COXPD4
MCID: CMB015
MIFTS: 25

Combined Oxidative Phosphorylation Deficiency 4 (COXPD4)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 4

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 4:

Name: Combined Oxidative Phosphorylation Deficiency 4 58 76 30 13 6 74
Coxpd4 58 60 76
Combined Oxidative Phosphorylation Deficiency, Type 4 41
Combined Oxidative Phosphorylation Defect Type 4 60

Characteristics:

Orphanet epidemiological data:

60
combined oxidative phosphorylation defect type 4
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death in infancy may occur


HPO:

33
combined oxidative phosphorylation deficiency 4:
Clinical modifier death in infancy
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 610678
MeSH 45 D028361
ICD10 via Orphanet 35 G31.8
UMLS via Orphanet 75 C1857682
Orphanet 60 ORPHA254925
MedGen 43 C1857682
UMLS 74 C1857682

Summaries for Combined Oxidative Phosphorylation Deficiency 4

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 4: A mitochondrial disease resulting in neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 4, also known as coxpd4, is related to atrial standstill 1 and combined oxidative phosphorylation deficiency. An important gene associated with Combined Oxidative Phosphorylation Deficiency 4 is TUFM (Tu Translation Elongation Factor, Mitochondrial), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Mitochondrial translation. Affiliated tissues include brain, and related phenotypes are nystagmus and developmental regression

Description from OMIM: 610678

Related Diseases for Combined Oxidative Phosphorylation Deficiency 4

Diseases related to Combined Oxidative Phosphorylation Deficiency 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 10.0
2 combined oxidative phosphorylation deficiency 10.0

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 4

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 4:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 developmental regression 33 HP:0002376
3 hepatomegaly 33 HP:0002240
4 microcephaly 33 HP:0000252
5 neonatal hypotonia 33 HP:0001319
6 intrauterine growth retardation 33 HP:0001511
7 increased serum lactate 33 HP:0002151
8 lactic acidosis 33 HP:0003128
9 respiratory failure 33 HP:0002878
10 hyperammonemia 33 HP:0001987
11 metabolic acidosis 33 HP:0001942
12 polymicrogyria 33 HP:0002126
13 encephalopathy 33 HP:0001298
14 leukodystrophy 33 HP:0002415
15 opisthotonus 33 HP:0002179

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
developmental regression
encephalopathy (patient a)
hypertonia (patient a)
spasticity (patient a)
cystic leukodystrophy (patient a)
more
Laboratory Abnormalities:
increased serum lactate
hyperammonemia

Respiratory:
respiratory failure

Head And Neck Head:
microcephaly (patient a)

Growth Other:
intrauterine growth retardation

Metabolic Features:
lactic acidosis

Muscle Soft Tissue:
hypotonia, neonatal

Head And Neck Eyes:
nystagmus (patient a)

Clinical features from OMIM:

610678

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 4

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 4

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 4

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 4:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 4 30 TUFM

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 4

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 4:

42
Brain

Publications for Combined Oxidative Phosphorylation Deficiency 4

Articles related to Combined Oxidative Phosphorylation Deficiency 4:

# Title Authors Year
1
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4. ( 30903008 )
2019
2
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. ( 26741492 )
2016
3
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. ( 17160893 )
2007

Variations for Combined Oxidative Phosphorylation Deficiency 4

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 4:

76
# Symbol AA change Variation ID SNP ID
1 TUFM p.Arg336Gln VAR_031902

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUFM NM_003321.4(TUFM): c.1016G> A (p.Arg339Gln) single nucleotide variant Pathogenic rs121434452 GRCh37 Chromosome 16, 28855329: 28855329
2 TUFM NM_003321.4(TUFM): c.1016G> A (p.Arg339Gln) single nucleotide variant Pathogenic rs121434452 GRCh38 Chromosome 16, 28844008: 28844008
3 TUFM NM_003321.4(TUFM): c.440T> A (p.Leu147His) single nucleotide variant Pathogenic rs1057518742 GRCh37 Chromosome 16, 28856351: 28856351
4 TUFM NM_003321.4(TUFM): c.440T> A (p.Leu147His) single nucleotide variant Pathogenic rs1057518742 GRCh38 Chromosome 16, 28845030: 28845030
5 TUFM NM_003321.4(TUFM): c.162delC (p.Tyr54Terfs) deletion Pathogenic rs1057518743 GRCh37 Chromosome 16, 28857318: 28857318
6 TUFM NM_003321.4(TUFM): c.162delC (p.Tyr54Terfs) deletion Pathogenic rs1057518743 GRCh38 Chromosome 16, 28845997: 28845997
7 TUFM NM_003321.4(TUFM): c.989G> C (p.Arg330Pro) single nucleotide variant Likely pathogenic rs924099073 GRCh37 Chromosome 16, 28855356: 28855356
8 TUFM NM_003321.4(TUFM): c.989G> C (p.Arg330Pro) single nucleotide variant Likely pathogenic rs924099073 GRCh38 Chromosome 16, 28844035: 28844035

Expression for Combined Oxidative Phosphorylation Deficiency 4

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 4.

Pathways for Combined Oxidative Phosphorylation Deficiency 4

Pathways related to Combined Oxidative Phosphorylation Deficiency 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.68 MIR4721 TUFM
2
Show member pathways
11.18 MIR4721 TUFM

GO Terms for Combined Oxidative Phosphorylation Deficiency 4

Sources for Combined Oxidative Phosphorylation Deficiency 4

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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