Proteasome-associated autoinflammatory syndrome 1

Preferred Label : Proteasome-associated autoinflammatory syndrome 1;

Symbol : PRAAS1;

CISMeF acronym : ALDD; CANDLE; NKJO; PRAAS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NKJO; Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy; Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome; Jmp syndrome; Nakajo-nishimura syndrome; CANDLE; ALDD; Autoinflammation, lipodystrophy, and dermatosis syndrome;

Included titles and symbols : Proteasome-associated autoinflammatory syndrome 1, digenic;

Description : This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the proteasome subunit, beta-type, 8 gene (PSMB8, 177046.0001);

Laboratory abnormalities : Increased erythrocyte sedimentation rate; Hypergammaglobulinemia; Increased gamma-interferon; Increased IL-6; Increased IgA; Increased IL-8; Increased IgG; Increased C-reactive protein; Abnormal liver enzymes, intermittent; Increased serum triglycerides;

Prefixed ID : #256040;

Details

Origin ID

256040;

UMLS CUI

C4746851;

Automatic exact mappings (from CISMeF team)
- CANDLE syndrome [ORDO Disease]
- JMP syndrome [DO Concept]
- JMP syndrome [ORDO Disease]
- Nakajo-Nishimura syndrome [ICD-11 More detail]
- Nakajo-Nishimura syndrome [ORDO Disease]
- PSMB8 wt Allele [NCIt concept]
CISMeF manual mappings
- Autoinflammation, lipodystrophy and dermatosis syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- CANDLE syndrome [MedDRA Preferred Term]
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome [MedDRA LLT]
- Proteasome-Associated Autoinflammatory Syndrome 1 [NCIt concept]
- Proteasome-associated autoinflammatory syndrome [ORDO Disease]
DO Cross reference
- JMP syndrome [DO Concept]
Genes related to phenotype
- Proteasome subunit, beta-type, 8 [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Adipose tissue loss [HPO term]
- Arrhythmia [HPO term]
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Bone pain [HPO term]
- Camptodactyly of finger [HPO term]
- Cardiomegaly [HPO term]
- Childhood onset [HPO term]
- Chronic constipation [HPO term]
- Clubbing of fingers [HPO term]
- Congestive heart failure [HPO term]
- Conjunctivitis [HPO term]
- Death in adolescence [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Elbow flexion contracture [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated circulating thyroid-stimulating hormone concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Elevated hepatic transaminase [HPO term]
- Epididymitis [HPO term]
- Episcleritis [HPO term]
- Erythema [HPO term]
- Erythema nodosum [HPO term]
- Failure to thrive [HPO term]
- Finger swelling [HPO term]
- Flexion contracture [HPO term]
- Flexion contracture of finger [HPO term]
- Flexion contracture of toe [HPO term]
- Growth abnormality [HPO term]
- Growth delay [HPO term]
- Gynecomastia [HPO term]
- Hallux valgus [HPO term]
- Hepatomegaly [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypertrichosis [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypoplastic scapulae [HPO term]
- Impaired glucose tolerance [HPO term]
- Increased circulating IgA level [HPO term]
- Increased circulating IgG level [HPO term]
- Increased circulating antibody level [HPO term]
- Increased serum interferon-gamma level [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Irregular menstruation [HPO term]
- Large nose [HPO term]
- Lipodystrophy [HPO term]
- Long fingers [HPO term]
- Loss of facial adipose tissue [HPO term]
- Lymphadenopathy [HPO term]
- Macroglossia [HPO term]
- Macrotia [HPO term]
- Microcytic anemia [HPO term]
- Muscle weakness [HPO term]
- Panniculitis [HPO term]
- Parotitis [HPO term]
- Premature graying of hair [HPO term]
- Progeroid facial appearance [HPO term]
- Prominent nose [HPO term]
- Proptosis [HPO term]
- Protuberant abdomen [HPO term]
- Punctate opacification of the cornea [HPO term]
- Recurrent fever [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Reduced tendon reflexes [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Skin plaque [HPO term]
- Sparse axillary hair [HPO term]
- Splenomegaly [HPO term]
- Stiff skin [HPO term]
- Thick lower lip vermilion [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- CANDLE syndrome [ORDO Disease]
- JMP syndrome [ORDO Disease]
- Nakajo-Nishimura syndrome [ORDO Disease]
- Proteasome-associated autoinflammatory syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoinflammation, lipodystrophy and dermatosis syndrome (disorder) [SNOMED CT concept]
- CANDLE syndrome [MedDRA Preferred Term]
- CANDLE syndrome [ORDO Disease]
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome [MedDRA LLT]
- Nakajo syndrome [MeSH concept]
- Proteasome-Associated Autoinflammatory Syndrome 1 [NCIt concept]
- Proteasome-associated autoinflammatory syndrome [ORDO Disease]
- nakajo syndrome [MeSH Supplementary Concept]

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