Cytoscape Web
Click node...

DDOST-CDG
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
TRAPS syndrome
1 OMIM reference -
1 associated gene
37 signs/symptoms
DDOST-CDG
TRAPS syndrome

DDOST
(UniProt - OMIM)
 TNFRSF1A
(UniProt - OMIM)

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


Citations in the biomedical literature:


DDOST-CDG
DDOST
TRAPS syndrome
TNFRSF1A



DDOST-CDG
TRAPS syndrome

Synonym(s):
- CDG syndrome type Ir
- CDG-Ir
- CDG1R
- Carbohydrate deficient glycoprotein syndrome type Ir
- Congenital disorder of glycosylation type 1r
- Congenital disorder of glycosylation type Ir
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 genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: no data available
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
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


DDOST-CDG

(no data available)