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Mitochondrial trifunctional protein deficiency

1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
37 signs/symptoms

Mitochondrial trifunctional protein deficiency

TRAPS syndrome

HADHA	(UniProt - OMIM)		TNFRSF1A	(UniProt - OMIM)
HADHB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HADHA	(0.72)	TNFRSF1A

Citations in the biomedical literature:

Mitochondrial trifunctional protein deficiency		TRAPS syndrome
	Synonym(s): - TFP deficiency - TFPD		Synonym(s): - Autosomal dominant periodic fever - Familial hibernian fever - TNF receptor 1 associated periodic syndrome - Tumor necrosis factor receptor 1 associated periodic syndrome

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

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

	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		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D024741		External references: 1 OMIM reference - No MeSH references

TRAPS syndrome
	Very frequent - Acute abdominal pain / colic - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Cutaneous rash - Erysipela - Fever / chilling - Macules - Malabsorption / chronic diarrhea / steatorrhea - Myalgia / muscular pain - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion Frequent - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Arthritis / synovitis / synovial proliferation - Constipation - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperleukocytosis / leukocytosis - Intestinal obstruction / ileus - Lymphadenopathy / polyadenopathies - Nausea / vomiting / regurgitation / merycism / hyperemesis - Splenomegaly - Testes inflammation / orchitis Occasional - Articular / joint pain / arthralgia - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Cranial nerves palsy - Dizziness - Ecchymoses - Facial pain / cephalalgia / migraine - Fasciitis - Follicular / erythematous / edematous papules / milium - Myocardium anomalies / myocarditis - Myositis - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Peritonitis / peritoneal abscess - Pharyngitis - Psychic / behavioural troubles - Sacroiliac joints anomalies - Thoracic / chest pain - Vascularitis / vasculitides / arteritis
Mitochondrial trifunctional protein deficiency
(no data available)