Autoinflammatory syndrome, familial, behcet-like 1

Preferred Label : Autoinflammatory syndrome, familial, behcet-like 1;

Symbol : AIFBL1;

CISMeF acronym : AISBL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : AIFBL;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tumor necrosis factor-alpha-induced protein 3 gene (TNFAIP3, 191163.0001);

Laboratory abnormalities : Increased circulating proinflammatory cytokines;

Prefixed ID : #616744;

Details

Origin ID

616744;

UMLS CUI

C4225218;

Automatic exact mappings (from CISMeF team)
- Hereditary pediatric Behçet-like disease [ORDO Disease]
- TNFAIP3 wt Allele [NCIt concept]
Genes related to phenotype
- Tumor necrosis factor-alpha-induced protein 3 [OMIM gene]
HPO term(s)
- Anterior uveitis [HPO term]
- Antinuclear antibody positivity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Chorea [HPO term]
- Colitis [HPO term]
- Genital ulcers [HPO term]
- Hemolytic anemia [HPO term]
- Ileal ulcer [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Lupus anticoagulant [HPO term]
- Lymphopenia [HPO term]
- Oral ulcer [HPO term]
- Polyarticular arthritis [HPO term]
- Recurrent fever [HPO term]
- Skin rash [HPO term]
- Thrombocytopenia [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Hereditary pediatric Behçet-like disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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