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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
10 associated genes
67 signs/symptoms
Isolated CoQ-cytochrome C reductase deficiency
Behçet disease

BCS1L C4A
CYC1 HLA-B
LYRM7 IL10
MT-CYB IL12RB2
TTC19 IL23R
UQCC2 MEFV
UQCRB NOD2
UQCRC2 STAT4
UQCRQ TLR4
UBAC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CYC1
(0.63)
C4A



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Behçet disease
C4A HLA-B IL10 IL12RB2 IL23R MEFV
NOD2 STAT4 TLR4 UBAC2



Isolated CoQ-cytochrome C reductase deficiency
Behçet disease

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare neurologic disease
- Rare renal disease
- Rare skin disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: adult
Type of inheritance: multigenic/multifactorial

External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D001528

Behçet disease

Very frequent
- Arthritis / synovitis / synovial proliferation
- Asthenia / fatigue / weakness
- Enanthema / aphtosa / aphta / leukoplakia
- Facial pain / cephalalgia / migraine
- Fever / chilling
- Follicular / erythematous / edematous papules / milium
- Meningitis / meningeal syndrome
- Myalgia / muscular pain
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Photophobia
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Testes inflammation / orchitis
- Vascularitis / vasculitides / arteritis

Frequent
- Abnormal gait
- Acne / acnea
- Acute abdominal pain / colic
- Articular / joint pain / arthralgia
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Obnubilation / coma / lethargia / desorientation
- Severe allergic reaction / atopy
- Venous thrombosis / phlebitis / thrombophlebitis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Angor pectoris / myocardial infarction
- Anorexia
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Arterial embolism / thrombosis
- Ataxia / incoordination / trouble of the equilibrium
- Cataract / lens opacification
- Cranial hypertension
- Cranial nerves palsy
- Dizziness
- Early death / lethality
- Encephalitis
- Endocardium anomalies / fibroelastosis / endocarditis
- Gangrena / necrosis
- Hemoptysis
- Hypereflexia
- Intestinal perforation
- Lung / pulmonary infiltrates
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Myocardium anomalies / myocarditis
- Myositis
- Neuritis / polyneuritis / multineuritis
- Osteonecrosis / bone infarction
- Pancreatitis
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Pulmonary thromboembolism
- Pyramidal syndrome
- Renal failure
- Renal glomerular defect / glomerulopathy
- Retinopathy
- Retrobulbar optic neuritis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia
- Visual loss / blindness / amblyopia
- Weight loss / loss of appetite / break in weight curve / general health alteration
- Xerophthalmia / dry eyes


Isolated CoQ-cytochrome C reductase deficiency

(no data available)