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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
5 signs/symptoms
Isolated CoQ-cytochrome C reductase deficiency
ALG3-CDG

BCS1L ALG3
CYC1
LYRM7
MT-CYB
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CYC1
(0.63)
ALG3



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
ALG3-CDG
ALG3



Isolated CoQ-cytochrome C reductase deficiency
ALG3-CDG

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

Synonym(s):
- CDG syndrome type Id
- CDG-Id
- CDG1D
- Carbohydrate deficient glycoprotein syndrome type Id
- Congenital disorder of glycosylation type 1d
- Congenital disorder of glycosylation type Id
- Mannosyltransferase 6 deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- 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: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive

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

ALG3-CDG

Very frequent
- Anomalies of eyes and vision
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Seizures / epilepsy / absences / spasms / status epilepticus



Isolated CoQ-cytochrome C reductase deficiency

(no data available)