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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
11 signs/symptoms
Isolated CoQ-cytochrome C reductase deficiency
Pyruvate dehydrogenase E3 deficiency

BCS1L DLD
CYC1
LYRM7
MT-CYB
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
UQCRC2
(0.49)
DLD



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Pyruvate dehydrogenase E3 deficiency
DLD



Isolated CoQ-cytochrome C reductase deficiency
Pyruvate dehydrogenase E3 deficiency

Synonym(s):
- Isolated coenzyme Q-cytochrome C reductase deficiency
- Isolated mitochondrial respiratory chain complex III deficiency
- Isolated ubiquinone-cytochrome C reductase deficiency

Synonym(s):
- DLD deficiency
- Dihydrolipoamide dehydrogenase deficiency
- E3-deficient maple syrup urine disease

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: child / adolescent
Type of inheritance: autosomal recessive

External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Pyruvate dehydrogenase E3 deficiency

Very frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Autosomal recessive inheritance
- Organic acid metabolism anomalies

Frequent
- Abnormal gait
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Movement disorder

Occasional
- Hepatocellular liver disease / hepatic failure
- Hypoglycemia


Isolated CoQ-cytochrome C reductase deficiency

(no data available)