Information on PRAAS1
Basic details
Name: Proteasome-associated autoinflammatory syndrome 1 | Acronym: PRAAS1
Alt. names: CANDLE | Proteasome-associated autoinflammatory syndrome 1 and digenic forms
Gene: PSMB8 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2010
Last updated on: 2023-05-17 17:13:47 by
Description
It 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)[OMIM]. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene or in PSMB4.
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Hepatomegaly |
19 (79.2%) | 0 (0.0%) | 5 (20.8%) |
| 2 | Finger swelling |
17 (89.5%) | 0 (0.0%) | 2 (10.5%) |
| 3 | elevated ESR |
16 (72.7%) | 0 (0.0%) | 6 (27.3%) |
| 4 | Failure to thrive |
15 (79.0%) | 0 (0.0%) | 4 (21.1%) |
| 5 | Elevated C-reactive protein |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Flexion contracture |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Recurrent fevers |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Skeletal muscle atrophy |
12 (50.0%) | 0 (0.0%) | 12 (50.0%) |
| 9 | short stature |
11 (91.7%) | 0 (0.0%) | 1 (8.3%) |
| 10 | Splenomegaly |
10 (41.7%) | 0 (0.0%) | 14 (58.3%) |
| 11 | Arthralgia |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Lipodystrophy |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Skin plaque |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Elevated hepatic transaminases |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 15 | Basal ganglia calcification |
7 (36.8%) | 0 (0.0%) | 12 (63.2%) |
| 16 | Lymphadenopathy |
7 (77.8%) | 0 (0.0%) | 2 (22.2%) |
| 17 | Protuberant abdomen |
7 (77.8%) | 0 (0.0%) | 2 (22.2%) |
| 18 | Decreased HDL cholesterol concentration |
6 (66.7%) | 0 (0.0%) | 3 (33.3%) |
| 19 | Hypertriglyceridemia |
6 (28.6%) | 0 (0.0%) | 15 (71.4%) |
| 20 | Hypergammaglobulinaemia |
6 (50.0%) | 0 (0.0%) | 6 (50.0%) |
| 21 | Hypertrichosis |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 22 | Macroglossia |
5 (33.3%) | 0 (0.0%) | 10 (66.7%) |
| 23 | Conjunctivitis |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 24 | Episcleritis |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 25 | Recurrent otitis media |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 26 | erythema nodosum |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 27 | Flexion contracture of finger |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 28 | Increased IgA levels |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 29 | Increased IgG level |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 30 | Intellectual disability, mild |
3 (25.0%) | 0 (0.0%) | 9 (75.0%) |
| 31 | Microcytic anemia |
3 (25.0%) | 0 (0.0%) | 9 (75.0%) |
| 32 | Acanthosis nigricans |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 33 | Arrhythmia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 34 | Bone pain |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 35 | Childhood onset |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 36 | Chronic constipation |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 37 | Elevated TSH levels |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 38 | Epididymitis |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 39 | Hallux valgus |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 40 | Increased serum IFN-gamma level |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 41 | Increased circulating IL-6 |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 42 | Increased circulating IL-8 |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 43 | Parotitis |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 44 | Recurrent sinusitis |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 45 | Seizures |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 46 | Sparse axillary hair |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 47 | Death in adolescence |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 48 | Gynecomastia |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 49 | Hypoplastic scapulae |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 50 | Infantile onset |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 51 | Intellectual disability |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 52 | Irregular menstruation |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 53 | Premature graying of hair |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 54 | Progeroid facial appearance |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 55 | Proptosis |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 56 | Punctate opacification of the cornea |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 57 | Recurrent upper respiratory tract infection |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 58 | Reduced tendon reflexes |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 59 | Thrombocytopenia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.