Isolated cytochrome C oxidase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: COX DEFICIENCY
Isolated mitochondrial respiratory chain complex IV deficiency
Isolated COX deficiency
CYTOCHROME c OXIDASE DEFICIENCY
Number of Symptoms 41
OrphanetNr: 254905
OMIM Id: 220110
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated oxidative phosphorylation complex disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000124) Renal tubular dysfunction 46 / 7739
2
(HPO:0001994) Renal Fanconi syndrome 12 / 7739
3
(HPO:0000093) Proteinuria 169 / 7739
4
(HPO:0003355) Aminoaciduria 65 / 7739
5
(HPO:0003076) Glycosuria 32 / 7739
6
(HPO:0003109) Hyperphosphaturia 18 / 7739
7
(HPO:0000508) Ptosis 459 / 7739
8
(HPO:0000648) Optic atrophy 238 / 7739
9
(HPO:0000580) Pigmentary retinopathy 49 / 7739
10
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
11
(HPO:0001251) Ataxia 413 / 7739
12
(HPO:0001250) Seizures 1245 / 7739
13
(HPO:0001270) Motor delay 322 / 7739
14
(HPO:0007256) Abnormal pyramidal signs 116 / 7739
15
(HPO:0002490) Increased CSF lactate 28 / 7739
16
(HPO:0001263) Global developmental delay 853 / 7739
17
(HPO:0001249) Intellectual disability 1089 / 7739
18
(HPO:0002240) Hepatomegaly 467 / 7739
19
(HPO:0006565) Increased hepatocellular lipid droplets 2 / 7739
20
(HPO:0001410) Decreased liver function 59 / 7739
21
(HPO:0001508) Failure to thrive 454 / 7739
22
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
23
(HPO:0001903) Anemia 289 / 7739
24
(HPO:0002151) Increased serum lactate 92 / 7739
25
(HPO:0003128) Lactic acidosis 116 / 7739
26
(HPO:0002880) Respiratory difficulties 15 / 7739
27
(HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
28
(HPO:0002875) Exertional dyspnea 29 / 7739
29
(HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue 20 / 7739
30
(HPO:0012240) Increased intramyocellular lipid droplets 7 / 7739
31
(HPO:0010547) Muscle flaccidity 466 / 7739
32
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
33
(HPO:0001252) Muscular hypotonia 990 / 7739
34
(HPO:0003546) Exercise intolerance 62 / 7739
35
(HPO:0001324) Muscle weakness 859 / 7739
36
(OMIM) Muscle biopsy shows decrease or absence of cytochrome c oxidase 1 / 7739
37
(OMIM) Decreased activity of cytochrome c oxidase in muscle and fibroblasts 1 / 7739
38
(OMIM) Liver biopsy shows increased lipid droplets and abnormal mitochondria 1 / 7739
39
(OMIM) Increased lipid droplets and abnormal mitochondria 1 / 7739
40
(OMIM) Symmetric lesions in the basal ganglia consistent with Leigh syndrome (256000), in a subset of patients 1 / 7739
41
(OMIM) Biopsy shows decreased cytochrome c oxidase 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Complex IV (cytochrome c oxidase; EC 1.9.3.1) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase ...
Clinical Description OMIM Cytochrome c oxidase deficiency is clinically heterogeneous, ranging from isolated myopathy to severe multisystem disease, with onset from infancy to adulthood (Shoubridge, 2001).

Van Biervliet et al. (1977) described a Dutch family in which 3 sibs, ...

Genotype-Phenotype Correlations OMIM The nuclear genes COX10, SURF1, and SCO2, all linked to isolated COX deficiency, are involved in the maturation and assembly of COX, emphasizing the major role of such genes in COX pathology. Valnot et al. (2000) noted the ...
Molecular genetics OMIM - Mutations in Mitochondrial-encoded Genes

In a 15-year-old girl with COX deficiency manifesting as exercise-induced muscle cramps and myoglobinuria, Keightley et al. (1996) identified a 15-bp deletion in the MTCO3 gene (516050.0003). In a 36-year-old woman ...

Population genetics OMIM In the French Canadian population of the Saguenay-Lac-Saint-Jean region of Quebec Province, De Braekeleer (1991) estimated the prevalence at birth of cytochrome c oxidase deficiency to be 1 in 2,473, giving a carrier frequency of 1 in 28. ...