CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 2

General Information (adopted from Orphanet):

Synonyms, Signs: CEMCOX2
Number of Symptoms 15
OrphanetNr:
OMIM Id: 615119
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0001298) Encephalopathy 72 / 7739
3
(HPO:0001558) Decreased fetal movement 74 / 7739
4
(HPO:0001397) Hepatic steatosis 75 / 7739
5
(HPO:0004898) Persistent lactic acidosis 3 / 7739
6
(HPO:0010547) Muscle flaccidity 466 / 7739
7
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
8
(HPO:0001252) Muscular hypotonia 990 / 7739
9
(HPO:0001324) Muscle weakness 859 / 7739
10
(OMIM) Glycogen deposition 1 / 7739
11
(OMIM) Mildly decreased cytochrome c oxidase activity 1 / 7739
12
(HPO:0002171) Gliosis 48 / 7739
13
(OMIM) Increased intermyofibrillar and subsarcolemmal glycogen 1 / 7739
14
(OMIM) Hypertrophic cardiomyopathy, biventricular 1 / 7739
15
(OMIM) Markedly decreased cytochrome c oxidase activity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kennaway et al. (1990) reported a female infant, born of healthy nonconsanguineous Caucasian parents, who presented shortly after birth with hypotonia, lactic acidosis, and seizures. Echocardiogram on day 6 showed no ventricular enlargement, but she died on day ...
Molecular genetics OMIM In a female infant who died at day 24 of life with hypotonia, lactic acidosis, and massive biventricular cardiac hypertrophy, who was originally reported by Kennaway et al. (1990), Antonicka et al. (2003) identified compound heterozygosity for a ...