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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
3 associated genes
4 signs/symptoms
Isolated CoQ-cytochrome C reductase deficiency
Well-differentiated liposarcoma

BCS1L CDK4
CYC1 HMGA2
LYRM7 MDM2
MT-CYB
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
UQCRB
UQCRC2
(0.63)
(0.63)
MDM2
MDM2



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Well-differentiated liposarcoma
CDK4 HMGA2 MDM2



Isolated CoQ-cytochrome C reductase deficiency
Well-differentiated liposarcoma

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

Synonym(s):
- ALT
- Atypical lipoma
- Atypical lipomatous tumor
- WDLS

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

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

Well-differentiated liposarcoma

Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Functional anomalies of the kidney and the urinary tract
- Intestinal transit disorder


Isolated CoQ-cytochrome C reductase deficiency

(no data available)