COXPD2
MCID: CMB013
MIFTS: 22

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 58 76 30 13 6 74
Coxpd2 58 60 76
Corpus Callosum, Agenesis of, with Dysmorphism and Fatal Lactic Acidosis 58
Agenesis of Corpus Callosum with Dysmorphism and Fatal Lactic Acidosis 76
Combined Oxidative Phosphorylation Deficiency, Type 2 41
Combined Oxidative Phosphorylation Defect Type 2 60

Characteristics:

Orphanet epidemiological data:

60
combined oxidative phosphorylation defect type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
combined oxidative phosphorylation deficiency 2:
Onset and clinical course congenital onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 2

UniProtKB/Swiss-Prot : 76 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, is also known as coxpd2. An important gene associated with Combined Oxidative Phosphorylation Deficiency 2 is MRPS16 (Mitochondrial Ribosomal Protein S16). Affiliated tissues include skin, liver and testes, and related phenotypes are low-set ears and agenesis of corpus callosum

Description from OMIM: 610498

Related Diseases for Combined Oxidative Phosphorylation Deficiency 2

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 2

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 2:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 agenesis of corpus callosum 33 HP:0001274
3 abnormal facial shape 33 HP:0001999
4 neonatal hypotonia 33 HP:0001319
5 feeding difficulties in infancy 33 HP:0008872
6 edema 33 HP:0000969
7 patent ductus arteriosus 33 HP:0001643
8 ventriculomegaly 33 HP:0002119
9 increased serum lactate 33 HP:0002151
10 lactic acidosis 33 HP:0003128
11 brachydactyly 33 HP:0001156
12 lethargy 33 HP:0001254
13 hypokinesia 33 HP:0002375
14 small for gestational age 33 HP:0001518
15 redundant neck skin 33 HP:0005989
16 elevated hepatic transaminase 33 HP:0002910

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

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

Skeletal Hands:
brachydactyly

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

Head And Neck Face:
dysmorphic facies

Muscle Soft Tissue:
edema, nonpitting

Cardiovascular Vascular:
patent ductus arteriosus

Metabolic Features:
lactic acidosis

Growth Other:
small for gestational age

Abdomen Gastrointestinal:
poor feeding

Head And Neck Neck:
redundant skin over the neck

Clinical features from OMIM:

610498

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 30 MRPS16

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 2

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

42
Skin, Liver, Testes

Publications for Combined Oxidative Phosphorylation Deficiency 2

Variations for Combined Oxidative Phosphorylation Deficiency 2

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRPS16 NM_016065.3(MRPS16): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs104894168 GRCh37 Chromosome 10, 75010693: 75010693
2 MRPS16 NM_016065.3(MRPS16): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs104894168 GRCh38 Chromosome 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

GO Terms for Combined Oxidative Phosphorylation Deficiency 2

Sources for Combined Oxidative Phosphorylation Deficiency 2

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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