Cytoscape Web
Click node...

Isolated CoQ-cytochrome C reductase deficiency
6 OMIM references -
9 associated genes
No signs/symptoms info
COMMON GENES: 1
GRACILE syndrome
1 OMIM reference -
1 associated gene
11 signs/symptoms
Isolated CoQ-cytochrome C reductase deficiency
GRACILE syndrome

BCS1L
(UniProt - OMIM)
 BCS1L
(UniProt - OMIM)
CYC1
(UniProt - OMIM)
LYRM7
(UniProt)
MT-CYB
(UniProt - OMIM)
TTC19
(UniProt - OMIM)
UQCC2
(UniProt - OMIM)
UQCRB
(UniProt - OMIM)
UQCRC2
(UniProt - OMIM)
UQCRQ
(UniProt - OMIM)

COMMON
GENES 		BCS1L


Citations in the biomedical literature:


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



Isolated CoQ-cytochrome C reductase deficiency
GRACILE syndrome

Synonym(s):
- Isolated coenzyme Q-cytochrome C reductase deficiency
- Isolated mitochondrial respiratory chain complex III deficiency
- Isolated ubiquinone-cytochrome C reductase deficiency
Synonym(s):
- Fellman disease
- Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death
- Growth restriction - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
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: before age 5
Type of inheritance: autosomal recessive
External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537934
GRACILE syndrome

Very frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Autosomal recessive inheritance
- Cirrhosis
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Hepatitis / icterus / cholestasis
- Hyperferritinemia / iron overload
- Liver / hepatic steatosis
- Renal tubular defect / tubulopathy

Frequent
- Brittle hair / distrix / trichorrhexis
- Early death / lethality



Isolated CoQ-cytochrome C reductase deficiency

(no data available)