MCID: CMB015
MIFTS: 22

Combined Oxidative Phosphorylation Deficiency 4

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 57 75 29 13 6 73
Coxpd4 57 59 75
Combined Oxidative Phosphorylation Deficiency, Type 4 40
Combined Oxidative Phosphorylation Defect Type 4 59

Characteristics:

Orphanet epidemiological data:

59
combined oxidative phosphorylation defect type 4
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death in infancy may occur


HPO:

32
combined oxidative phosphorylation deficiency 4:
Mortality/Aging death in infancy
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 610678
Orphanet 59 ORPHA254925
UMLS via Orphanet 74 C1857682
ICD10 via Orphanet 34 E88.8
MedGen 42 C1857682
MeSH 44 D028361
UMLS 73 C1857682

Summaries for Combined Oxidative Phosphorylation Deficiency 4

UniProtKB/Swiss-Prot : 75 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, is also known as coxpd4. 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

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 4

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
developmental regression
leigh syndrome
encephalopathy (patient a)
hypertonia (patient a)
spasticity (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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 4:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 developmental regression 32 HP:0002376
3 hepatomegaly 32 HP:0002240
4 microcephaly 32 HP:0000252
5 neonatal hypotonia 32 HP:0001319
6 intrauterine growth retardation 32 HP:0001511
7 increased serum lactate 32 HP:0002151
8 lactic acidosis 32 HP:0003128
9 respiratory failure 32 HP:0002878
10 hyperammonemia 32 HP:0001987
11 metabolic acidosis 32 HP:0001942
12 polymicrogyria 32 HP:0002126
13 encephalopathy 32 HP:0001298
14 opisthotonus 32 HP:0002179

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 29 TUFM

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 4

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

41
Brain

Publications for Combined Oxidative Phosphorylation Deficiency 4

Variations for Combined Oxidative Phosphorylation Deficiency 4

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

75
# 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 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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