CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 1

General Information (adopted from Orphanet):

Synonyms, Signs: CEMCOX1
CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY
Number of Symptoms 15
OrphanetNr:
OMIM Id: 604377
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007941) Limited extraocular movements 7 / 7739
2
(HPO:0002490) Increased CSF lactate 28 / 7739
3
(HPO:0001263) Global developmental delay 853 / 7739
4
(HPO:0011968) Feeding difficulties 240 / 7739
5
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
6
(HPO:0003128) Lactic acidosis 116 / 7739
7
(HPO:0002151) Increased serum lactate 92 / 7739
8
(HPO:0002880) Respiratory difficulties 15 / 7739
9
(HPO:0001252) Muscular hypotonia 990 / 7739
10
(HPO:0010547) Muscle flaccidity 466 / 7739
11
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
12
(HPO:0001324) Muscle weakness 859 / 7739
13
(OMIM) Gliosis, necrosis, neuronal loss in basal ganglia, brainstem, and spinal cord 1 / 7739
14
(OMIM) Muscle biopsy shows decreased cytochrome c oxidase activity 1 / 7739
15
(OMIM) MRI may show lesions in basal ganglia, thalamus, and white matter 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Papadopoulou et al. (1999) reported 3 unrelated infants with COX deficiency caused by mutation in the SCO2 gene who presented with a fatal infantile cardioencephalomyopathy characterized by hypertrophic cardiomyopathy, lactic acidosis, and gliosis. Heart and skeletal muscle showed ...
Molecular genetics OMIM In 3 unrelated infants with COX deficiency with fatal infantile cardioencephalomyopathy, Papadopoulou et al. (1999) identified compound heterozygous mutations in the SCO2 gene (see, e.g., 604272.0001). In 3 affected patients from 2 families with the disorder, Jaksch et ...