Isolated CoQ-cytochrome C reductase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Isolated mitochondrial respiratory chain complex III deficiency
Isolated ubiquinone-cytochrome C reductase deficiency
Isolated coenzyme Q-cytochrome C reductase deficiency
Number of Symptoms 39
OrphanetNr: 1460
OMIM Id: 124000
615157
615158
615159
615160
615453
ICD-10: G71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Mitochondrial
[Orphanet]
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:0001970) Tubulointerstitial nephritis 27 / 7739
2
 (HPO:0003355) Aminoaciduria 65 / 7739
3
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
4
 (HPO:0000518) Cataract 454 / 7739
5
 (HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
6
 (HPO:0000738) Hallucinations 60 / 7739
7
 (HPO:0000712) Emotional lability 44 / 7739
8
 (HPO:0006789) Mitochondrial encephalopathy 5 / 7739
9
 (HPO:0001347) Hyperreflexia 363 / 7739
10
 (HPO:0001257) Spasticity 251 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0002353) EEG abnormality 188 / 7739
13
 (HPO:0001250) Seizures 1245 / 7739
14
 (HPO:0001251) Ataxia 413 / 7739
15
 (HPO:0000716) Depression 99 / 7739
16
 (HPO:0001249) Intellectual disability 1089 / 7739
17
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
18
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
19
 (HPO:0004298) Abnormality of the abdominal wall 20 / 7739
20
 (HPO:0006558) Decreased mitochondrial complex III activity in liver tissue 3 / 7739
21
 (HPO:0001414) Microvesicular hepatic steatosis 9 / 7739
22
 (HPO:0001396) Cholestasis 136 / 7739
23
 (HPO:0001410) Decreased liver function 59 / 7739
24
 (HPO:0001508) Failure to thrive 454 / 7739
25
 (HPO:0002299) Brittle hair 52 / 7739
26
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
27
 (HPO:0003256) Abnormality of the coagulation cascade 19 / 7739
28
 (HPO:0003128) Lactic acidosis 116 / 7739
29
 (HPO:0001942) Metabolic acidosis 81 / 7739
30
 (HPO:0002151) Increased serum lactate 92 / 7739
31
 (HPO:0001943) Hypoglycemia 131 / 7739
32
 (HPO:0003546) Exercise intolerance 62 / 7739
33
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
34
 (HPO:0003201) Rhabdomyolysis 27 / 7739
35
 (HPO:0001252) Muscular hypotonia 990 / 7739
36
 (HPO:0001324) Muscle weakness 859 / 7739
37
 (HPO:0002059) Cerebral atrophy 171 / 7739
38
 (HPO:0030151) Cholangitis 10 / 7739
39
 (HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: