COXPD2
MCID: CMB013
MIFTS: 29

Combined Oxidative Phosphorylation Deficiency 2 (COXPD2)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 2

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 2:

Name: Combined Oxidative Phosphorylation Deficiency 2 57 12 72 29 13 6 15 70
Coxpd2 57 12 58 72
Agenesis of Corpus Callosum with Dysmorphism and Fatal Lactic Acidosis 12 72
Corpus Callosum, Agenesis of, with Dysmorphism and Fatal Lactic Acidosis 57
Combined Oxidative Phosphorylation Deficiency, Type 2 39
Combined Oxidative Phosphorylation Defect Type 2 58

Characteristics:

Orphanet epidemiological data:

58
combined oxidative phosphorylation defect type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
genetic heterogeneity (see coxpd1, )


HPO:

31
combined oxidative phosphorylation deficiency 2:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111483
OMIM® 57 610498
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
ICD10 via Orphanet 33 E88.8
UMLS via Orphanet 71 C1864843
Orphanet 58 ORPHA254920
MedGen 41 C1864843
UMLS 70 C1864843

Summaries for Combined Oxidative Phosphorylation Deficiency 2

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 2: A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 2, also known as coxpd2, is related to combined oxidative phosphorylation deficiency and neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy. An important gene associated with Combined Oxidative Phosphorylation Deficiency 2 is MRPS16 (Mitochondrial Ribosomal Protein S16), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include liver, and related phenotypes are agenesis of corpus callosum and abnormal facial shape

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2.

More information from OMIM: 610498 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 2

Diseases related to Combined Oxidative Phosphorylation Deficiency 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 9.7 VARS2 MRPS16
2 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 9.6 VARS2 VARS1
3 combined oxidative phosphorylation deficiency 20 9.6 VARS2 VARS1
4 combined oxidative phosphorylation deficiency 12 9.5 VARS2 VARS1
5 perrault syndrome 9.4 VARS2 VARS1 MRPS16

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 2:



Diseases related to Combined Oxidative Phosphorylation Deficiency 2

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 2

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 2:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 abnormal facial shape 31 HP:0001999
3 neonatal hypotonia 31 HP:0001319
4 feeding difficulties in infancy 31 HP:0008872
5 low-set ears 31 HP:0000369
6 elevated hepatic transaminase 31 HP:0002910
7 brachydactyly 31 HP:0001156
8 patent ductus arteriosus 31 HP:0001643
9 ventriculomegaly 31 HP:0002119
10 increased serum lactate 31 HP:0002151
11 lethargy 31 HP:0001254
12 lactic acidosis 31 HP:0003128
13 small for gestational age 31 HP:0001518
14 edema 31 HP:0000969
15 hypokinesia 31 HP:0002375
16 redundant neck skin 31 HP:0005989

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
low-set ears

Cardiovascular Vascular:
patent ductus arteriosus

Metabolic Features:
lactic acidosis

Neurologic Central Nervous System:
agenesis of the corpus callosum
dilated ventricles
hypotonia, neonatal
decreased spontaneous movements
lethargy, neonatal

Head And Neck Face:
dysmorphic facies

Muscle Soft Tissue:
edema, nonpitting

Skeletal Hands:
brachydactyly

Laboratory Abnormalities:
increased serum lactate
abnormal liver function tests
decreased activity of mitochondrial respiratory complexes i, ii+iii, iv, and v
normal complex ii activity

Growth Other:
small for gestational age

Abdomen Gastrointestinal:
poor feeding

Head And Neck Neck:
redundant skin over the neck

Clinical features from OMIM®:

610498 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Combined Oxidative Phosphorylation Deficiency 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 9.17 MRPS16
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.17 MRPS16
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 9.17 MRPS16
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.17 VARS1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.17 MRPS16
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.17 MRPS16
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 9.17 MRPS16

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 2

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 2

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 2

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 2:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 2 29 MRPS16

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 2

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 2:

40
Liver

Publications for Combined Oxidative Phosphorylation Deficiency 2

Articles related to Combined Oxidative Phosphorylation Deficiency 2:

# Title Authors PMID Year
1
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. 57 6
15505824 2004
2
Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant. 61
29478218 2018

Variations for Combined Oxidative Phosphorylation Deficiency 2

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAJC9-AS1 , MRPS16 NM_016065.4(MRPS16):c.331C>T (p.Arg111Ter) SNV Pathogenic 1835 rs104894168 GRCh37: 10:75010693-75010693
GRCh38: 10:73250935-73250935

Expression for Combined Oxidative Phosphorylation Deficiency 2

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 2.

Pathways for Combined Oxidative Phosphorylation Deficiency 2

Pathways related to Combined Oxidative Phosphorylation Deficiency 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.87 VARS2 VARS1

GO Terms for Combined Oxidative Phosphorylation Deficiency 2

Biological processes related to Combined Oxidative Phosphorylation Deficiency 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.33 VARS2 VARS1 MRPS16
2 tRNA aminoacylation for protein translation GO:0006418 9.26 VARS2 VARS1
3 aminoacyl-tRNA metabolism involved in translational fidelity GO:0106074 8.96 VARS2 VARS1
4 valyl-tRNA aminoacylation GO:0006438 8.62 VARS2 VARS1

Molecular functions related to Combined Oxidative Phosphorylation Deficiency 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.26 VARS2 VARS1
2 aminoacyl-tRNA ligase activity GO:0004812 9.16 VARS2 VARS1
3 aminoacyl-tRNA editing activity GO:0002161 8.96 VARS2 VARS1
4 valine-tRNA ligase activity GO:0004832 8.62 VARS2 VARS1

Sources for Combined Oxidative Phosphorylation Deficiency 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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