Combined oxidative phosphorylation defect type 2

General Information (adopted from Orphanet):

Synonyms, Signs: COXPD2
Corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis
Number of Symptoms 26
OrphanetNr: 254920
OMIM Id: 610498
ICD-10: E88.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Neonatal
Infancy
15505824 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial disorder due to a defect in mitochondrial protein synthesis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Comment:

The mitochondrial respiratory chain (MRC) comprises 85 subunits that are assembled into five enzymatic complexes. Thirteen of the subunits are mitochondrial encoded, and the rest are encoded by the nuclear genome. Most of the factors involved in the synthesis of the 13 proteins, including those participating in the synthesis and maintenance of the mitochondrial DNA (mtDNA) and in the mitochondrial transcription and translation processes, are encoded by the nuclear genome; only the 22 tRNAs and the 2 rRNAs are encoded by the mtDNA. A defective mitochondrial translation, caused by a ribosomal protein (MRPS16 / COXPD2) nonsense mutation and associated with marked reduction of the 12S rRNA transcript level, is reported (PMID: 15505824).

Symptom Information: Sort by abundance 

1
 (HPO:0011968) Feeding difficulties 15505824 IBIS 240 / 7739
2
 (HPO:0008872) Feeding difficulties in infancy 15505824 IBIS 153 / 7739
3
 (HPO:0002151) Increased serum lactate 15505824 IBIS 92 / 7739
4
 (HPO:0003128) Lactic acidosis 15505824 IBIS 116 / 7739
5
 (HPO:0001518) Small for gestational age 15505824 IBIS 107 / 7739
6
 (HPO:0002119) Ventriculomegaly 15505824 IBIS 253 / 7739
7
 (HPO:0001643) Patent ductus arteriosus 15505824 IBIS 228 / 7739
8
 (HPO:0011925) Decreased activity of mitochondrial ATP synthase complex 15505824 IBIS 10 / 7739
9
 (HPO:0011923) Decreased activity of mitochondrial complex I 15505824 IBIS 35 / 7739
10
 (HPO:0008347) Decreased activity of mitochondrial complex IV 15505824 IBIS 31 / 7739
11
 (HPO:0000969) Edema 15505824 IBIS 117 / 7739
12
 (HPO:0001252) Muscular hypotonia 15505824 IBIS 990 / 7739
13
 (HPO:0001319) Neonatal hypotonia 15505824 IBIS 101 / 7739
14
 (HPO:0001254) Lethargy 15505824 IBIS 104 / 7739
15
 (HPO:0002375) Hypokinesia 15505824 IBIS 25 / 7739
16
 (HPO:0001156) Brachydactyly syndrome 15505824 IBIS 180 / 7739
17
 (HPO:0001274) Agenesis of corpus callosum 15505824 IBIS 142 / 7739
18
 (HPO:0002910) Elevated hepatic transaminases 15505824 IBIS 158 / 7739
19
 (HPO:0001999) Abnormal facial shape 15505824 IBIS 169 / 7739
20
 (HPO:0005989) Redundant neck skin 15505824 IBIS 40 / 7739
21
 (HPO:0000369) Low-set ears 15505824 IBIS 372 / 7739
22
 (MedDRA:10072883) Brachydactyly 15505824 IBIS 153 / 7739
23
 (OMIM) Decreased activity of mitochondrial respiratory complexes I, II+III, IV, and V 15505824 IBIS 1 / 7739
24
 (OMIM) Edema, nonpitting 15505824 IBIS 3 / 7739
25
 (OMIM) Lethargy, neonatal 15505824 IBIS 1 / 7739
26
 (OMIM) Normal complex II activity 15505824 IBIS 1 / 7739

Associated genes:

MRPS16;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Miller et al. (2004) reported an infant, born of consanguineous parents, with agenesis of the corpus callosum, dysmorphism, and fatal neonatal lactic acidosis. The patient was small at birth, with dysmorphic facies, low-set ears, nonpitting edema of the ...
Molecular genetics OMIM In a patient with combined oxidative phosphorylation deficiency, Miller et al. (2004) identified a homozygous mutation in the MRPS16 gene (609204.0001). The abundance of the 12S rRNA transcript was markedly decreased to 12% of control values, which may ...