PRAAS3
MCID: PRT134
MIFTS: 28

Proteasome-Associated Autoinflammatory Syndrome 3 (PRAAS3)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Eye diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Proteasome-Associated Autoinflammatory Syndrome 3

MalaCards integrated aliases for Proteasome-Associated Autoinflammatory Syndrome 3:

Name: Proteasome-Associated Autoinflammatory Syndrome 3 58 76 6
Proteasome-Associated Autoinflammatory Syndrome 3, Digenic 58 76
Praas3 58 76
Proteasome-Associated Autoinflammatory Syndrome 3 and Digenic Forms 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
one patient with only psmb4 mutations has been reported (last curated july 2018)
digenic inheritance (mutation in psmb4 and psmb9) has been reported in 1 family (last curated july 2018)


Classifications:



External Ids:

OMIM 58 617591
MeSH 45 D056660
MedGen 43 CN252341

Summaries for Proteasome-Associated Autoinflammatory Syndrome 3

OMIM : 58 Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040). (617591)

MalaCards based summary : Proteasome-Associated Autoinflammatory Syndrome 3, is also known as proteasome-associated autoinflammatory syndrome 3, digenic. An important gene associated with Proteasome-Associated Autoinflammatory Syndrome 3 is PSMB9 (Proteasome Subunit Beta 9), and among its related pathways/superpathways are Signaling by Wnt and Mitotic Metaphase and Anaphase. Affiliated tissues include skin, liver and neutrophil.

UniProtKB/Swiss-Prot : 76 Proteasome-associated autoinflammatory syndrome 3: An autoinflammatory disorder characterized by onset in early infancy and recurrent fever, nodular dermatitis, myositis, panniculitis- induced lipodystrophy, lymphadenopathy, and immune dysregulation. Variable accompanying features may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications. PRAAS3 inheritance is autosomal recessive or digenic.

Related Diseases for Proteasome-Associated Autoinflammatory Syndrome 3

Diseases in the Proteasome-Associated Autoinflammatory Syndrome 1 family:

Proteasome-Associated Autoinflammatory Syndrome 3 Proteasome-Associated Autoinflammatory Syndrome 2

Symptoms & Phenotypes for Proteasome-Associated Autoinflammatory Syndrome 3

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive
poor overall growth

Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia
lymphopenia

Head And Neck Head:
sinusitis

Immunology:
lymphopenia
recurrent infections
lymphadenopathy
hypergammaglobulinemia
autoantibodies
more
Head And Neck Face:
facial edema

Skeletal Hands:
finger swelling

Head And Neck Ears:
otitis

Neurologic Central Nervous System:
aseptic meningitis

Skeletal:
arthritis
arthralgia
joint contractures

Abdomen Liver:
hepatomegaly

Skin Nails Hair Skin:
acanthosis nigricans
skin rash
neutrophilic dermatosis
skin lesions
annular plaques

Muscle Soft Tissue:
lipodystrophy
myositis
panniculitis
intraabdominal fat
peripheral calcinosis

Head And Neck Eyes:
conjunctivitis
periorbital swelling
periorbital erythema
violaceous eyelids

Laboratory Abnormalities:
increased erythrocyte sedimentation rate
elevated liver enzymes
increased c-reactive protein
increased triglycerides
increased acute phase reactants
more
Metabolic Features:
fever, recurrent
metabolic syndrome

Skeletal Feet:
toe swelling

Clinical features from OMIM:

617591

Drugs & Therapeutics for Proteasome-Associated Autoinflammatory Syndrome 3

Search Clinical Trials , NIH Clinical Center for Proteasome-Associated Autoinflammatory Syndrome 3

Genetic Tests for Proteasome-Associated Autoinflammatory Syndrome 3

Anatomical Context for Proteasome-Associated Autoinflammatory Syndrome 3

MalaCards organs/tissues related to Proteasome-Associated Autoinflammatory Syndrome 3:

42
Skin, Liver, Neutrophil

Publications for Proteasome-Associated Autoinflammatory Syndrome 3

Variations for Proteasome-Associated Autoinflammatory Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Proteasome-Associated Autoinflammatory Syndrome 3:

76
# Symbol AA change Variation ID SNP ID
1 PSMB9 p.Gly165Asp VAR_075258 rs369359789

ClinVar genetic disease variations for Proteasome-Associated Autoinflammatory Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PSMB4 NM_002796.2(PSMB4): c.634_642del (p.Asp212_Val214del) deletion Pathogenic rs1553209362 GRCh37 Chromosome 1, 151373772: 151373780
2 PSMB4 NM_002796.2(PSMB4): c.634_642del (p.Asp212_Val214del) deletion Pathogenic rs1553209362 GRCh38 Chromosome 1, 151401296: 151401304
3 PSMB4 NM_002796.2(PSMB4): c.-9G> A single nucleotide variant Pathogenic rs200946642 GRCh37 Chromosome 1, 151372055: 151372055
4 PSMB4 NM_002796.2(PSMB4): c.-9G> A single nucleotide variant Pathogenic rs200946642 GRCh38 Chromosome 1, 151399579: 151399579
5 PSMB4 NM_002796.2(PSMB4): c.44_45insG (p.Pro16Serfs) insertion Pathogenic rs1235715459 GRCh37 Chromosome 1, 151372107: 151372108
6 PSMB4 NM_002796.2(PSMB4): c.44_45insG (p.Pro16Serfs) insertion Pathogenic rs1235715459 GRCh38 Chromosome 1, 151399631: 151399632
7 PSMB9 NM_002800.4(PSMB9): c.494G> A (p.Gly165Asp) single nucleotide variant Pathogenic rs369359789 GRCh38 Chromosome 6, 32858467: 32858467
8 PSMB9 NM_002800.4(PSMB9): c.494G> A (p.Gly165Asp) single nucleotide variant Pathogenic rs369359789 GRCh37 Chromosome 6, 32826244: 32826244

Expression for Proteasome-Associated Autoinflammatory Syndrome 3

Search GEO for disease gene expression data for Proteasome-Associated Autoinflammatory Syndrome 3.

Pathways for Proteasome-Associated Autoinflammatory Syndrome 3

Pathways related to Proteasome-Associated Autoinflammatory Syndrome 3 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 PSMB4 PSMB9
2
Show member pathways
12.29 PSMB4 PSMB9
3
Show member pathways
12.28 PSMB4 PSMB9
4
Show member pathways
12.25 PSMB4 PSMB9
5
Show member pathways
12.16 PSMB4 PSMB9
6
Show member pathways
12.14 PSMB4 PSMB9
7
Show member pathways
12.08 PSMB4 PSMB9
8
Show member pathways
12.03 PSMB4 PSMB9
9
Show member pathways
11.98 PSMB4 PSMB9
10
Show member pathways
11.88 PSMB4 PSMB9
11 11.8 PSMB4 PSMB9
12
Show member pathways
11.78 PSMB4 PSMB9
13
Show member pathways
11.61 PSMB4 PSMB9
14
Show member pathways
11.58 PSMB4 PSMB9
15
Show member pathways
11.41 PSMB4 PSMB9
16 11.24 PSMB4 PSMB9
17 10.78 PSMB4 PSMB9
18 10.69 PSMB4 PSMB9

GO Terms for Proteasome-Associated Autoinflammatory Syndrome 3

Cellular components related to Proteasome-Associated Autoinflammatory Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteasome complex GO:0000502 9.16 PSMB4 PSMB9
2 proteasome core complex GO:0005839 8.96 PSMB4 PSMB9
3 proteasome core complex, beta-subunit complex GO:0019774 8.62 PSMB4 PSMB9

Biological processes related to Proteasome-Associated Autoinflammatory Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.43 PSMB4 PSMB9
2 viral process GO:0016032 9.4 PSMB4 PSMB9
3 post-translational protein modification GO:0043687 9.37 PSMB4 PSMB9
4 protein deubiquitination GO:0016579 9.32 PSMB4 PSMB9
5 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.26 PSMB4 PSMB9
6 proteolysis involved in cellular protein catabolic process GO:0051603 9.16 PSMB4 PSMB9
7 proteasomal protein catabolic process GO:0010498 8.96 PSMB4 PSMB9
8 proteasomal ubiquitin-independent protein catabolic process GO:0010499 8.62 PSMB4 PSMB9

Molecular functions related to Proteasome-Associated Autoinflammatory Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.16 PSMB4 PSMB9
2 endopeptidase activity GO:0004175 8.96 PSMB4 PSMB9
3 threonine-type endopeptidase activity GO:0004298 8.62 PSMB4 PSMB9

Sources for Proteasome-Associated Autoinflammatory Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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