Autoinflammation with infantile enterocolitis

Preferred Label : Autoinflammation with infantile enterocolitis;

Symbol : AIFEC;

CISMeF acronym : AIFEC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NLR family, caspase recruitment domain-containing 4 gene (NLRC4, 606831.0001);

Laboratory abnormalities : Increased serum ferritin; Increased IL1B Increased soluble IL2R; Increased C-reactive protein; Increased IL18;

Prefixed ID : #616050;

Details

Origin ID

616050;

UMLS CUI

C4015067;

Automatic exact mappings (from CISMeF team)
- NLRC4 wt Allele [NCIt concept]
- Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Autoinflammation with infantile enterocolitis [MedDRA Preferred Term]
- Periodic fever, infantile enterocolitis, autoinflammatory syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Nlr family, caspase recruitment domain-containing 4 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Diffuse alveolar hemorrhage [HPO term]
- Disseminated intravascular coagulation [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Enterocolitis [HPO term]
- Episodic vomiting [HPO term]
- Failure to thrive [HPO term]
- Fatigue [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fever [HPO term]
- Hypoalbuminemia [HPO term]
- Hypofibrinogenemia [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Meningitis [HPO term]
- Myalgia [HPO term]
- Neonatal onset [HPO term]
- Pancytopenia [HPO term]
- Recurrent fever [HPO term]
- Reduced natural killer cell activity [HPO term]
- Reduced natural killer cell count [HPO term]
- Secretory diarrhea [HPO term]
- Short stature [HPO term]
- Skin rash [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Urticaria [HPO term]
- Villous atrophy [HPO term]
ORDO concept(s)
- Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoinflammation with infantile enterocolitis [MedDRA Preferred Term]
- Periodic fever, infantile enterocolitis, autoinflammatory syndrome (disorder) [SNOMED CT concept]

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