Autoinflammation with episodic fever and lymphadenopathy

Preferred Label : Autoinflammation with episodic fever and lymphadenopathy;

Symbol : AIEFL;

CISMeF acronym : AIEFL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cria syndrome; Cleavage-resistant ripk1-induced autoinflammatory syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the receptor-interacting serine/threonine kinase 1 gene (RIPK1, 603453.0004);

Laboratory abnormalities : Increased serum levels of IL6, IL8, TNF, and gamma-interferon;

Prefixed ID : #618852;

Details

Origin ID

618852;

UMLS CUI

C5394286;

Genes related to phenotype
- Receptor-interacting serine/threonine kinase 1 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Antinuclear antibody positivity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hepatomegaly [HPO term]
- Lymphadenopathy [HPO term]
- Microcytic anemia [HPO term]
- Oral ulcer [HPO term]
- Recurrent fever [HPO term]
- Recurrent tonsillitis [HPO term]
- Rheumatoid factor positive [HPO term]
- Splenomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CRIA syndrome [MedDRA Preferred Term]
- Cleavage-resistant RIPK1-induced autoinflammatory syndrome [MedDRA LLT]

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