MCID: CMB013
MIFTS: 22

Combined Oxidative Phosphorylation Deficiency 2

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 75 29 13 6 73
Coxpd2 57 59 75
Corpus Callosum, Agenesis of, with Dysmorphism and Fatal Lactic Acidosis 57
Agenesis of Corpus Callosum with Dysmorphism and Fatal Lactic Acidosis 75
Combined Oxidative Phosphorylation Deficiency, Type 2 40
Combined Oxidative Phosphorylation Defect Type 2 59

Characteristics:

Orphanet epidemiological data:

59
combined oxidative phosphorylation defect type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
combined oxidative phosphorylation deficiency 2:
Onset and clinical course congenital onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 2

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 2:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 agenesis of corpus callosum 32 HP:0001274
3 abnormal facial shape 32 HP:0001999
4 neonatal hypotonia 32 HP:0001319
5 feeding difficulties in infancy 32 HP:0008872
6 edema 32 HP:0000969
7 patent ductus arteriosus 32 HP:0001643
8 elevated hepatic transaminases 32 HP:0002910
9 ventriculomegaly 32 HP:0002119
10 increased serum lactate 32 HP:0002151
11 lactic acidosis 32 HP:0003128
12 brachydactyly 32 HP:0001156
13 lethargy 32 HP:0001254
14 hypokinesia 32 HP:0002375
15 small for gestational age 32 HP:0001518
16 redundant neck skin 32 HP:0005989

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:

41
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 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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