Proteasome-associated autoinflammatory syndrome 2

Preferred Label : Proteasome-associated autoinflammatory syndrome 2;

Symbol : PRAAS2;

CISMeF acronym : PRAAS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the proteasome maturation protein (POMP, 613386.0002);

Laboratory abnormalities : Increased acute phase reactants; Increased erythrocyte sedimentation rate; Increased C-reactive protein;

Prefixed ID : #618048;

Details

Origin ID

618048;

UMLS CUI

C4747989;

Genes related to phenotype
- Proteasome maturation protein [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Failure to thrive [HPO term]
- Fever [HPO term]
- Increased circulating antibody level [HPO term]
- Lymphadenopathy [HPO term]
- Periorbital edema [HPO term]
- Recurrent infections [HPO term]
- Skin rash [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Proteasome-associated autoinflammatory syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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