Proteasome-associated autoinflammatory syndrome 3

Preferred Label : Proteasome-associated autoinflammatory syndrome 3;

Symbol : PRAAS3;

CISMeF acronym : PRAAS3;

Type : Phenotype, molecular basis known;

Included titles and symbols : Proteasome-associated autoinflammatory syndrome 3, digenic;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the proteasome subunit, beta-type, 4 gene (PSMB4, 602177.0001);

Laboratory abnormalities : Increased acute phase reactants; Increased erythrocyte sedimentation rate; Increased C-reactive protein; Increased triglycerides; High LDL; Low HDL; Elevated liver enzymes;

Prefixed ID : #617591;

Details

Origin ID

617591;

UMLS CUI

C4747850;

Genes related to phenotype
- Proteasome subunit, beta-type, 4 [OMIM gene]
- Proteasome subunit, beta-type, 9 [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Anemia [HPO term]
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Conjunctivitis [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Finger swelling [HPO term]
- Flexion contracture [HPO term]
- Hepatomegaly [HPO term]
- Hypertriglyceridemia [HPO term]
- Increased circulating antibody level [HPO term]
- Lipodystrophy [HPO term]
- Lymphadenopathy [HPO term]
- Lymphopenia [HPO term]
- Myositis [HPO term]
- Panniculitis [HPO term]
- Periorbital edema [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Sinusitis [HPO term]
- Skin rash [HPO term]
- Splenomegaly [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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