Proteasome-Associated Autoinflammatory Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Skin diseases Bone diseases Endocrine diseases Blood diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 617591

MeSH ⁴⁵ D056660

MedGen ⁴³ CN252341

SNOMED-CT via HPO ⁷⁰ 109245003 112625008 127388009 more

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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, neutrophil and bone, and related phenotypes are failure to thrive and arthritis

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.

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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

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Symptoms & Phenotypes for Proteasome-Associated Autoinflammatory Syndrome 3

Human phenotypes related to Proteasome-Associated Autoinflammatory Syndrome 3:

³³ (show all 21)

#	Description	HPO Source Accession
1	failure to thrive ³³	HP:0001508
2	arthritis ³³	HP:0001369
3	flexion contracture ³³	HP:0001371
4	arthralgia ³³	HP:0002829
5	hypertriglyceridemia ³³	HP:0002155
6	anemia ³³	HP:0001903
7	acanthosis nigricans ³³	HP:0000956
8	elevated hepatic transaminase ³³	HP:0002910
9	thrombocytopenia ³³	HP:0001873
10	lipodystrophy ³³	HP:0009125
11	lymphopenia ³³	HP:0001888
12	recurrent infections ³³	HP:0002719
13	conjunctivitis ³³	HP:0000509
14	skin rash ³³	HP:0000988
15	periorbital edema ³³	HP:0100539
16	lymphadenopathy ³³	HP:0002716
17	increased antibody level in blood ³³	HP:0010702
18	myositis ³³	HP:0100614
19	elevated erythrocyte sedimentation rate ³³	HP:0003565
20	panniculitis ³³	HP:0012490
21	recurrent fever ³³	HP:0001954

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

Laboratory Abnormalities:
increased erythrocyte sedimentation rate
elevated liver enzymes
increased c-reactive protein
increased triglycerides
increased acute phase reactants
more

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

Skeletal Hands:
finger swelling

Metabolic Features:
fever, recurrent
metabolic syndrome

Skeletal Feet:
toe swelling

Clinical features from OMIM:

617591

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Drugs & Therapeutics for Proteasome-Associated Autoinflammatory Syndrome 3

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

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Genetic Tests for Proteasome-Associated Autoinflammatory Syndrome 3

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Anatomical Context for Proteasome-Associated Autoinflammatory Syndrome 3

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

⁴²

Skin, Neutrophil, Bone, Eye

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Publications for Proteasome-Associated Autoinflammatory Syndrome 3

Articles related to Proteasome-Associated Autoinflammatory Syndrome 3:

#	Title	Authors	Year
1	Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. ( 26524591 )	Brehm A...Goldbach-Mansky R	2015
2	Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. ( 21953331 )	Liu Y...Zlotogorski A	2012

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Genes for Proteasome-Associated Autoinflammatory Syndrome 3

Genes related to Proteasome-Associated Autoinflammatory Syndrome 3 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PSMB9	Proteasome Subunit Beta 9	Protein Coding	1278.17	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	26524591
2	PSMB4	Proteasome Subunit Beta 4	Protein Coding	978.37	Molecular basis known ⁵⁸ Pathogenic ⁶ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	21953331 26524591

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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

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Expression for Proteasome-Associated Autoinflammatory Syndrome 3

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

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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	Signaling by Wnt ⁶⁷ Show member pathways TCF dependent signaling in response to WNT ⁶⁷	12.34	PSMB4 PSMB9
2	Mitotic Metaphase and Anaphase ⁶⁷ Show member pathways Mitotic Anaphase ⁶⁷ Separation of Sister Chromatids ⁶⁷	12.29	PSMB4 PSMB9
3	Deubiquitination ⁶⁷ Show member pathways Ub-specific processing proteases ⁶⁷	12.28	PSMB4 PSMB9
4	Beta-Adrenergic Signaling ⁶⁵ Show member pathways CDK5 Pathway ⁶⁵ Erythropoietin Pathway ⁶⁵ Insulin Receptor Pathway ⁶⁵	12.25	PSMB4 PSMB9
5	Downstream signaling events of B Cell Receptor (BCR) ⁶⁷ Show member pathways Activation of RAS in B cells ⁶⁷ Signaling by the B Cell Receptor (BCR) ⁶⁷	12.16	PSMB4 PSMB9
6	Chks in Checkpoint Regulation ⁶⁵ Show member pathways DNA Repair Mechanisms ⁶⁵ Estrogen-mediated S-Phase Entry ⁶⁵ G2-M Phase Transition ⁶⁵ Parkinson's Disease Pathway ⁶⁵ SREBP Proteolysis ⁶⁵	12.14	PSMB4 PSMB9
7	Cell Cycle Checkpoints ⁶⁷ Show member pathways G2/M Checkpoints ⁶⁷	12.08	PSMB4 PSMB9
8	Signaling by Hedgehog ⁶⁷ Show member pathways Activation of SMO ⁶⁷ Hedgehog off' state ⁶⁷ Hedgehog on' state ⁶⁷	12.03	PSMB4 PSMB9
9	Mitotic G1-G1/S phases ⁶⁷ Show member pathways G1 to S cell cycle control ¹ G1/S Transition ⁶⁷	11.98	PSMB4 PSMB9
10	Antigen processing-Cross presentation ⁶⁷ Show member pathways Cross-presentation of particulate exogenous antigens (phagosomes) ⁶⁷ Endosomal/Vacuolar pathway ⁶⁷ ER-Phagosome pathway ⁶⁷ Immune response Antigen presentation by MHC class I ²³	11.88	PSMB4 PSMB9
11	WNT Signaling ⁶⁵	11.8	PSMB4 PSMB9
12	CLEC7A (Dectin-1) signaling ⁶⁷ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁷ C-type lectin receptors (CLRs) ⁶⁷	11.78	PSMB4 PSMB9
13	TCR signaling (REACTOME) ⁶⁷ Show member pathways TCR signaling ⁶⁷	11.61	PSMB4 PSMB9
14	Apoptosis and survival Caspase cascade ²³ Show member pathways Apoptosis and survival FAS signaling cascades ²³ Breakdown of the nuclear lamina ⁶⁷ Caspase cascade in apoptosis ¹ Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation ¹ FasL/ CD95L signaling ⁶⁷ Influenza A virus infection ¹	11.58	PSMB4 PSMB9
15	Cell cycle Cell cycle (generic schema) ²³ Show member pathways Cell cycle Regulation of G1/S transition (part 2) ²³ G0 and Early G1 ⁶⁷ G2 Phase ⁶⁷	11.41	PSMB4 PSMB9
16	SMAD Signaling Network ⁶⁵	11.24	PSMB4 PSMB9
17	Presenilin-Mediated Signaling ⁶⁵	10.78	PSMB4 PSMB9
18	Transcription_P53 signaling pathway ²³	10.69	PSMB4 PSMB9

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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

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Proteasome-Associated Autoinflammatory Syndrome 3 (PRAAS3)

Aliases & Classifications for Proteasome-Associated Autoinflammatory Syndrome 3

MalaCards integrated aliases for Proteasome-Associated Autoinflammatory Syndrome 3:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Proteasome-Associated Autoinflammatory Syndrome 3

Related Diseases for Proteasome-Associated Autoinflammatory Syndrome 3

Diseases in the Proteasome-Associated Autoinflammatory Syndrome 1 family:

Symptoms & Phenotypes for Proteasome-Associated Autoinflammatory Syndrome 3

Human phenotypes related to Proteasome-Associated Autoinflammatory Syndrome 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Proteasome-Associated Autoinflammatory Syndrome 3

Articles related to Proteasome-Associated Autoinflammatory Syndrome 3:

Genes for Proteasome-Associated Autoinflammatory Syndrome 3

Genes related to Proteasome-Associated Autoinflammatory Syndrome 3 (2 elite genes):

Variations for Proteasome-Associated Autoinflammatory Syndrome 3

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

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

Expression 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:

GO Terms for Proteasome-Associated Autoinflammatory Syndrome 3

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

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

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

Sources for Proteasome-Associated Autoinflammatory Syndrome 3