PRAAS1
MCID: PRT133
MIFTS: 77

Proteasome-Associated Autoinflammatory Syndrome 1 (PRAAS1)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Immune diseases, Liver diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Proteasome-Associated Autoinflammatory Syndrome 1

MalaCards integrated aliases for Proteasome-Associated Autoinflammatory Syndrome 1:

Name: Proteasome-Associated Autoinflammatory Syndrome 1 57 73 28 5
Jmp Syndrome 57 11 19 73 14
Proteasome-Associated Autoinflammatory Syndrome 1 and Digenic Forms 57 28 38
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 57 42 73
Nakajo-Nishimura Syndrome 57 42 73
Nakajo Syndrome 42 73 71
Nkjo 57 42 73
Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy 57 11
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 57 73
Praas1 57 73
Candle 57 73
Aldd 57 42
Joint Contractures - Muscle Atrophy - Microcytic Anemia - Panniculitis-Induced Lipodystrophy 19
Joint Contractures Muscular Atrophy Microcytic Anemia and Panniculitis-Induced Lipodystrophy 73
Japanese Autoinflammatory Syndrome with Lipodystrophy 42
Secondary Hypertrophic Osteoperiostosis with Pernio 73
Nodular Erythema with Digital Changes 73
Amyotrophy Fat Tissue Anomaly 19
Nakajo Nishimura Syndrome 19
Inflammation 71
Jasl 42
Nns 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of autoinflammation in infancy or first few years of life
onset of lipodystrophy later in childhood
onset of joint contractures later in life
some features are variable


Classifications:



Summaries for Proteasome-Associated Autoinflammatory Syndrome 1

MedlinePlus Genetics: 42 Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing).Later in childhood, affected individuals develop joint pain and joint deformities called contractures that limit movement, particularly in the hands, wrists, and elbows. They also experience weakness and wasting of muscles, along with a loss of fatty tissue (lipodystrophy), mainly in the upper body. The combination of muscle and fat loss worsens over time, leading to an extremely thin (emaciated) appearance in the face, chest, and arms.Other signs and symptoms of Nakajo-Nishimura syndrome can include an enlarged liver and spleen (hepatosplenomegaly), a shortage of red blood cells (anemia), a reduced amount of blood cells called platelets (thrombocytopenia), and abnormal deposits of calcium (calcification) in an area of the brain called the basal ganglia. Intellectual disability has been reported in some affected individuals.The signs and symptoms of Nakajo-Nishimura syndrome overlap with those of two other conditions: one called joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) syndrome; and the other called chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. All three conditions are characterized by skin abnormalities and lipodystrophy. Although they are often considered separate disorders, they are caused by mutations in the same gene, and some researchers believe they may represent different forms of a single condition.

MalaCards based summary: Proteasome-Associated Autoinflammatory Syndrome 1, also known as jmp syndrome, is related to alopecia and alopecia areata, and has symptoms including muscle weakness, polydipsia and arthralgia. An important gene associated with Proteasome-Associated Autoinflammatory Syndrome 1 is PSMB8 (Proteasome 20S Subunit Beta 8), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Entecavir and Glycyrrhizic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related phenotypes are seizure and failure to thrive

OMIM®: 57 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. (256040) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 An autosomal recessive autoinflammatory disorder characterized by early childhood onset of recurrent fever, joint stiffness and severe contractures of the hands and feet, and erythematous skin lesions with subsequent development of lipodystrophy and laboratory evidence of immune dysregulation. Accompanying features may include muscle weakness and atrophy, hepatosplenomegaly, and microcytic anemia.

Disease Ontology: 11 A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has material basis in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32.

Related Diseases for Proteasome-Associated Autoinflammatory Syndrome 1

Diseases in the Proteasome-Associated Autoinflammatory Syndrome family:

Proteasome-Associated Autoinflammatory Syndrome 1 Proteasome-Associated Autoinflammatory Syndrome 3
Proteasome-Associated Autoinflammatory Syndrome 2 Proteasome-Associated Autoinflammatory Syndrome 5
Proteasome-Associated Autoinflammatory Syndrome 4

Diseases related to Proteasome-Associated Autoinflammatory Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 857)
# Related Disease Score Top Affiliating Genes
1 alopecia 31.3 TNF IL6 IL1B IFNG
2 alopecia areata 31.2 TNF IL6 IL1B IFNG ICAM1 CXCL10
3 familial mediterranean fever 31.2 TNF NLRP3 MEFV IL6 IL1B IL10
4 proteasome-associated autoinflammatory syndrome 31.1 PSMB8 PSMB4
5 autoinflammatory syndrome 31.0 PSMB8 NLRP3 MEFV
6 myositis 30.9 TNF IL6 IL1B IFNG CXCL10
7 nakajo syndrome 30.7 PSMB8 PSMB4
8 aicardi-goutieres syndrome 30.5 TNF PSMB8 PSMB4 NLRP3 MEFV IL6
9 gestational diabetes 30.5 TNF IL6 IL1B CRP ADIPOQ
10 mycobacterium tuberculosis 1 30.5 TNF IL6 IL10 IFNG CXCL10 CRP
11 skin disease 30.4 VCAM1 TNF SELE RNASE3 PTGS2 NLRP3
12 contact dermatitis 30.4 TNF RNASE3 IL6 IL5 IL1B IL10
13 dermatitis 30.4 TNF RNASE3 NLRP3 IL6 IL5 IL1B
14 hypersensitivity vasculitis 30.4 TNF MEFV IL6 CRP
15 adult syndrome 30.4 TNF IL6 CRP ADIPOQ
16 pulmonary tuberculosis 30.4 TNF IL6 IL1B IL10 IFNG CXCL10
17 panniculitis 30.4 PSMB8 PSMB4 IFNG CRP
18 heart disease 30.4 VCAM1 TNF PTGS2 MEFV IL6 IL1B
19 anemia, autoimmune hemolytic 30.3 IL6 IL10 CRP
20 neutrophilic dermatosis, acute febrile 30.3 TNF MEFV IL1B CXCL8 CRP
21 anthracosis 30.3 TNF NLRP3 IL6 IL1B CXCL8 CCL2
22 sarcoidosis 1 30.3 TNF IL6 IL1B IL10 IFNG ICAM1
23 demyelinating disease 30.2 TNF IL6 IL1B IL10 IFNG CCL2
24 toxoplasmosis 30.2 TNF IL6 IL5 IL1B IL10 IFNG
25 chorioretinitis 30.2 TNF IL6 IL1B IL10 IFNG CXCL10
26 sickle cell anemia 30.2 VCAM1 TNF SELE IL6 ICAM1 CRP
27 pneumoconiosis 30.2 TNF IL6 IL1B IL10 ICAM1 CXCL8
28 malaria 30.2 VCAM1 TNF SELE RNASE3 PTGS2 NLRP3
29 pericarditis 30.2 TNF MEFV IL6 IL1B IFNG CXCL8
30 aseptic meningitis 30.2 TNF NLRP3 MEFV IL6 IL1B IL10
31 nutritional deficiency disease 30.2 IL6 CRP ADIPOQ
32 diarrhea 30.2 TNF IL6 IL5 IL1B IL10 IFNG
33 exanthem 30.2 TNF NLRP3 IL6 IL1B IL10 IFNG
34 vasculitis 30.1 VCAM1 TNF SELE MEFV IL6 IL1B
35 exudative vitreoretinopathy 1 30.1 TNF IL6 IL1B IL10 ICAM1 CXCL8
36 body mass index quantitative trait locus 11 30.1 VCAM1 TNF SELE PTGS2 NLRP3 IL6
37 relapsing-remitting multiple sclerosis 30.1 TNF IL6 IL1B IL10 IFNG ICAM1
38 covid-19 30.1 TNF NLRP3 IL6 IL1B IL10 CXCL8
39 glomerulonephritis 30.1 VCAM1 TNF IL6 IL1B IL10 ICAM1
40 uveitis 30.1 TNF IL6 IL1B IL10 IFNG ICAM1
41 viral infectious disease 30.1 TNF IL6 IL1B IL10 IFNG ICAM1
42 crohn's disease 30.1 TNF NLRP3 IL6 IL5 IL1B IL10
43 respiratory failure 30.0 TNF RNASE3 NLRP3 IL6 IL5 IL1B
44 periodontitis 30.0 TNF PTGS2 IL6 IL1B IL10 IFNG
45 pre-eclampsia 30.0 VCAM1 TNF SELE IL6 IL1B IL10
46 multiple sclerosis 29.9 VCAM1 TNF IL6 IL5 IL1B IL10
47 autoimmune disease 29.9 VCAM1 TNF IL6 IL5 IL1B IL10
48 hypertension, essential 29.9 VCAM1 TNF SELE PTGS2 NLRP3 IL6
49 allergic contact dermatitis 29.8 VCAM1 TNF SELE RNASE3 IL6 IL5
50 type 2 diabetes mellitus 29.7 VCAM1 TNF SELE PTGS2 NLRP3 IL6

Graphical network of the top 20 diseases related to Proteasome-Associated Autoinflammatory Syndrome 1:



Diseases related to Proteasome-Associated Autoinflammatory Syndrome 1

Symptoms & Phenotypes for Proteasome-Associated Autoinflammatory Syndrome 1

Human phenotypes related to Proteasome-Associated Autoinflammatory Syndrome 1:

30 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 Very rare (1%) HP:0001250
2 failure to thrive 30 Very rare (1%) HP:0001508
3 macroglossia 30 Very rare (1%) HP:0000158
4 splenomegaly 30 Very rare (1%) HP:0001744
5 hepatomegaly 30 Very rare (1%) HP:0002240
6 short stature 30 Very rare (1%) HP:0004322
7 intellectual disability, mild 30 Very rare (1%) HP:0001256
8 hypertriglyceridemia 30 Very rare (1%) HP:0002155
9 skeletal muscle atrophy 30 Very rare (1%) HP:0003202
10 recurrent otitis media 30 Very rare (1%) HP:0000403
11 elevated hepatic transaminase 30 Very rare (1%) HP:0002910
12 microcytic anemia 30 Very rare (1%) HP:0001935
13 thrombocytopenia 30 Very rare (1%) HP:0001873
14 reduced tendon reflexes 30 Very rare (1%) HP:0001315
15 lipodystrophy 30 Very rare (1%) HP:0009125
16 arthralgia 30 Very rare (1%) HP:0002829
17 arrhythmia 30 Very rare (1%) HP:0011675
18 premature graying of hair 30 Very rare (1%) HP:0002216
19 proptosis 30 Very rare (1%) HP:0000520
20 hallux valgus 30 Very rare (1%) HP:0001822
21 conjunctivitis 30 Very rare (1%) HP:0000509
22 gynecomastia 30 Very rare (1%) HP:0000771
23 acanthosis nigricans 30 Very rare (1%) HP:0000956
24 bone pain 30 Very rare (1%) HP:0002653
25 decreased hdl cholesterol concentration 30 Very rare (1%) HP:0003233
26 hypoplastic scapulae 30 Very rare (1%) HP:0000882
27 flexion contracture of finger 30 Very rare (1%) HP:0012785
28 lymphadenopathy 30 Very rare (1%) HP:0002716
29 protuberant abdomen 30 Very rare (1%) HP:0001538
30 elevated erythrocyte sedimentation rate 30 Very rare (1%) HP:0003565
31 episcleritis 30 Very rare (1%) HP:0100534
32 sparse axillary hair 30 Very rare (1%) HP:0002215
33 recurrent fever 30 Very rare (1%) HP:0001954
34 increased serum interferon-gamma level 30 Very rare (1%) HP:0030356
35 irregular menstruation 30 Very rare (1%) HP:0000858
36 hypertrichosis 30 Very rare (1%) HP:0000998
37 skin plaque 30 Very rare (1%) HP:0200035
38 increased circulating iga level 30 Very rare (1%) HP:0003261
39 progeroid facial appearance 30 Very rare (1%) HP:0005328
40 recurrent sinusitis 30 Very rare (1%) HP:0011108
41 erythema nodosum 30 Very rare (1%) HP:0012219
42 increased circulating igg level 30 Very rare (1%) HP:0003237
43 chronic constipation 30 Very rare (1%) HP:0012450
44 punctate opacification of the cornea 30 Very rare (1%) HP:0007856
45 parotitis 30 Very rare (1%) HP:0011850
46 basal ganglia calcification 30 Very rare (1%) HP:0002135
47 finger swelling 30 Very rare (1%) HP:0025131
48 epididymitis 30 Very rare (1%) HP:0000031
49 elevated circulating thyroid-stimulating hormone concentration 30 Very rare (1%) HP:0002925
50 elevated circulating c-reactive protein concentration 30 Very rare (1%) HP:0011227

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive
poor growth

Head And Neck Mouth:
macroglossia
thick lips

Hematology:
microcytic anemia
thrombocytopenia

Skeletal:
bone pain
joint pain
joint contractures
narrowing of the joint spaces
periarticular osteopenia

Skin Nails Hair Skin:
panniculitis
erythematous nodular skin lesions
annular erythematous edematous plaques
lesions become purpuric
residual hyperpigmentation
more
Neurologic Central Nervous System:
basal ganglia calcification
seizures (uncommon)
mental retardation, mild (2 families)

Laboratory Abnormalities:
increased erythrocyte sedimentation rate
increased serum triglycerides
hypergammaglobulinemia
increased gamma-interferon
increased igg
more
Growth Height:
short stature (less common)

Cardiovascular Heart:
cardiac insufficiency (in some)
arrhythmias (in some)

Skeletal Feet:
toe contractures, severe
foot contractures, severe

Metabolic Features:
fever, intermittent, recurrent (in some)

Muscle Soft Tissue:
muscle weakness
lipodystrophy, partial
lipodystrophy, generalized, panniculitis-induced (in some)
marked loss of subcutaneous fat in the limbs, face, and sometimes chest
muscle atrophy (variable)

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
conjunctivitis
episcleritis

Immunology:
lymphadenopathy
antinuclear autoantibodies (in some)

Skeletal Hands:
long fingers
finger swelling
finger contractures, severe
hand contractures, severe
clubbed fingers
more
Abdomen:
prominent abdomen

Skeletal Limbs:
elbow contractures

Head And Neck Face:
loss of facial subcutaneous fat
periorbital swelling due to violaceous plaques on the eyelids

Abdomen Spleen:
splenomegaly (variable)

Skin Nails Hair Skin Histology:
mononuclear cell infiltrates
atypical mononuclear cells with many mitoses

Clinical features from OMIM®:

256040 (Updated 08-Dec-2022)

UMLS symptoms related to Proteasome-Associated Autoinflammatory Syndrome 1:


muscle weakness; polydipsia; arthralgia; bone pain; dyspepsia; meningism

GenomeRNAi Phenotypes related to Proteasome-Associated Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 ADIPOQ CCL2 CRP CXCL10 CXCL8 ICAM1
2 no effect GR00402-S-2 10.18 ADIPOQ CCL2 CRP CXCL10 ICAM1 IFNG
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10 CXCL8 IL10 IL1B NLRP3 PSMB8 TNF
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10 CXCL8 ICAM1 IL10 IL1B NLRP3 PSMB8
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10 ICAM1
6 Reduced mammosphere formation GR00396-S 9.5 CCL2 CXCL8 IL5 PSMB4 PTGS2 SELE

MGI Mouse Phenotypes related to Proteasome-Associated Autoinflammatory Syndrome 1:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.4 ADIPOQ CCL2 CRP CXCL10 ICAM1 IFNG
2 growth/size/body region MP:0005378 10.32 ADIPOQ CCL2 ICAM1 IFNG IL10 IL1B
3 immune system MP:0005387 10.3 ADIPOQ CCL2 CRP CXCL10 ICAM1 IFNG
4 neoplasm MP:0002006 10.28 ADIPOQ CCL2 ICAM1 IFNG IL10 IL1B
5 liver/biliary system MP:0005370 10.25 ADIPOQ CCL2 IFNG IL10 IL5 IL6
6 cellular MP:0005384 10.25 ADIPOQ CCL2 CXCL10 ICAM1 IFNG IL10
7 cardiovascular system MP:0005385 10.22 ADIPOQ CCL2 CRP CXCL10 ICAM1 IFNG
8 muscle MP:0005369 10.13 ADIPOQ CCL2 ICAM1 IFNG IL10 IL6
9 digestive/alimentary MP:0005381 10.11 CCL2 ICAM1 IFNG IL10 IL5 IL6
10 hematopoietic system MP:0005397 10.06 ADIPOQ CCL2 CXCL10 ICAM1 IFNG IL10
11 skeleton MP:0005390 9.96 ADIPOQ CCL2 IFNG IL10 IL1B IL6
12 respiratory system MP:0005388 9.92 ADIPOQ IFNG IL10 IL5 IL6 PTGS2
13 mortality/aging MP:0010768 9.8 ADIPOQ CCL2 CXCL10 ICAM1 IFNG IL10
14 integument MP:0010771 9.4 ADIPOQ CCL2 ICAM1 IFNG IL10 IL1B

Drugs & Therapeutics for Proteasome-Associated Autoinflammatory Syndrome 1

Drugs for Proteasome-Associated Autoinflammatory Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 983)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
2
Glycyrrhizic acid Approved, Experimental Phase 4 1405-86-3 3495 14982
3
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
4
Fusidic acid Approved, Investigational Phase 4 6990-06-3 3000226
5
Permethrin Approved, Investigational Phase 4 52645-53-1 40326
6
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
7
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
8
Cetirizine Approved Phase 4 83881-51-0 2678
9
Sulfasalazine Approved Phase 4 599-79-1 5353980 5339 5359476
10
Lopinavir Approved Phase 4 192725-17-0 92727
11
Taurolidine Approved, Investigational Phase 4 19388-87-5
12
Brodalumab Approved, Investigational Phase 4 1174395-19-7
13
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
14
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
15
Glimepiride Approved Phase 4 93479-97-1 3476
16
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
17
Ramipril Approved Phase 4 87333-19-5 5362129
18
Remifentanil Approved Phase 4 132875-61-7 60815
19
Montelukast Approved Phase 4 158966-92-8 5281040
20
Losartan Approved Phase 4 114798-26-4 3961
21
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
22
Acetylcysteine Approved, Investigational Phase 4 616-91-1 581 12035
23
Sodium fluoride Approved Phase 4 7681-49-4
24
Difluprednate Approved Phase 4 23674-86-4 443936
25
Tocopherol Approved, Investigational Phase 4 1406-66-2
26
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
27
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 4 55-56-1 2713 9552079
28
Propranolol Approved, Investigational Phase 4 318-98-9, 525-66-6 62882 4946
29
Ustekinumab Approved, Investigational Phase 4 815610-63-0
30
Mecobalamin Approved, Investigational Phase 4 13422-55-4
31
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 44475014
32
Mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7 4240 441336
33
Liraglutide Approved Phase 4 204656-20-2 44147092 16134956
34
Mineral oil Approved, Vet_approved Phase 4 8042-47-5
35
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
36
Iodine Approved, Investigational Phase 4 7553-56-2 807
37
Chloramphenicol Approved, Vet_approved, Withdrawn Phase 4 56-75-7 298 5959
38
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294
39
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
40
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
41
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
42
Pitavastatin Approved Phase 4 147511-69-1 5282452
43
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
44
Dipivefrin Approved Phase 4 52365-63-6 3105
45
Minocycline Approved, Investigational Phase 4 10118-90-8, 13614-98-7 54675783 5281021
46
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
47 Strawberry Approved Phase 4
48
Linagliptin Approved Phase 4 668270-12-0 57389748 10096344
49
Methyltestosterone Approved Phase 4 58-18-4 6010
50
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0 21873174 65157

Interventional clinical trials:

(show top 50) (show all 3299)
# Name Status NCT ID Phase Drugs
1 Doxycycline and Airway Inflammation in COPD: A Randomised Placebo Controlled Trial Studying the Effects of Doxycycline on Airway Inflammation in Patients With Moderate and Severe Stable COPD. Unknown status NCT00857038 Phase 4 Doxycycline;Placebo
2 The Efficacy and Safety Study of Magnesium Isoglycyrrhizinate Injection Followed by Diammonium Glycyrrhizinate Enteric-coated Capsules and Combined With Entecavir on the Treatment of Chronic Hepatitis B Unknown status NCT03349008 Phase 4 Entecavir;Magnesium Isoglycyrrhizinate;Diammonium Glycyrrhizinate;Magnesium Isoglycyrrhizinate Placebo;Diammonium Glycyrrhizinate Placebo
3 Ocular Micro-vascular Research Base on Functional Slip Lamp Biomicroscopy Unknown status NCT03747614 Phase 4 Fluorometholone
4 The Role of Ketamine in Preventing Cognitive Dysfunctions in Postoperative Period of Cardiac Surgery Unknown status NCT02782429 Phase 4 Ketamine
5 The Efficacy Of Lyclear (Permethrin 5%) Vs Fusidic Acid1% and Synthomycine 5% for Demodex -Blepharitis Treatment, Prospective-Randomized Trial. Unknown status NCT03105505 Phase 4 Permethrin 5%;Synthomycine 5%;Fusidic Acid 1% M/R Eye Drops
6 The Effect of Ferric Citrate on Inflammation and Lipid Levels in Patients on Hemodialysis Unknown status NCT02661295 Phase 4 Ferric Citrate
7 Mechanisms of Endotoxin-Tolerance of Human Monocytes After CABG-Sugery - Effects of Hemofiltration and Mannitol Treatment Unknown status NCT00426192 Phase 4 i.v. mannitol
8 Volume Kinetics for 20% Albumin in Conscious and Anesthetized Humans With and Without Inflammation Unknown status NCT02556580 Phase 4 Albumin 20%
9 Examination of the Prevention and Treatment Modalities of Alveolitis in Relation With Impacted Teeth Surgery Unknown status NCT03741894 Phase 4 Iodoform;Chlorhexidine
10 A Randomized Controlled Clinical Trial aSsessing the Efficacy of DEXTENZA, Sustained Release Dexamethasone 0.4 mg Insert When Placed Within the Upper Eye Lid Canaliculus in Comparison to the Lower Lid Canaliculus Following Bilateral Cataract Extraction Surgery With Posterior Chamber Intraocular Lens Implant (CE/PCIOL). Unknown status NCT04592081 Phase 4 Dextenza 0.4Mg Ophthalmic Insert
11 Treatment of Coronary Atherosclerosis and Calcification by Insulin Sensitizers in Insulin-Resistant Patients: Evaluated by EBCT, 16-Slice MDCT Coronary Angiography/Scanning, and Intravascular Ultrasound Unknown status NCT00155350 Phase 4 pioglitazone
12 Effect of Atorvastatin on Inflammatory Atherosclerotic Plaques Assessed by FDG-PET Imaging Unknown status NCT00920101 Phase 4 Atorvastatin
13 Mitigating Cardiac Inflammation and Oxidative Stress in Atrial Myocardium Via Short-term Lovaza Treatment Prior to Surgery Unknown status NCT01046604 Phase 4 Lovaza group
14 The Effects of Acetylcysteine on Alleviating Damage of Oxidative Stress in Hemodialysis Patients Unknown status NCT00247507 Phase 4 acetylcysteine
15 Comparison of the Effects of Ticagrelor Versus Clopidogrel on Endothelial Dysfunction and Vascular Inflammation in Patients With Prior Non-ST-segment Acute Coronary Syndrome Unknown status NCT02379676 Phase 4 Ticagrelor;Clopidogrel
16 Efficacy Evaluation of the Dose Regimen of Serratiopeptidase (Serodase 5 mg Tablet) in the Treatment of Inflammation After Third Molar Surgery Unknown status NCT02493179 Phase 4 Serodase 5 mg;Placebo
17 A Randomized, Controlled, PRospective Study of the Effectiveness and Safety of the Ocular Therapeutix Dextenza (Dexamethasone Ophthalmic Insert) 0.4 mg for the treatMEnt of Post-operative Inflammation in Patients Who Plan to Undergo Refractive Lens Exchange (RLE) Unknown status NCT04549935 Phase 4 Dextenza;Topical Prednisolone
18 A Randomized, Double-blind, Placebo-controlled Trial of Dan-shen Extract in Patients With Stable Angina Pectoris Unknown status NCT02870764 Phase 4 Dan-shen extract;Placebo
19 Clinical Impact of Bacteriuria on Chronic Inflammation in Asymptomatic Hemodialysis Patients Unknown status NCT01570556 Phase 4
20 Quantitative Comparison of the Efficacy of Subtenon 20-mg Triamcinolone Injection With 0.1% Dexamethasone Eye Drop in Controlling Intraocular Inflammation After Phacoemulsification Unknown status NCT01801774 Phase 4 Subtenon 20-mg triamcinolone injection;Placebo
21 Effect of a Treatment Switch From Protease Inhibitor to Raltegravir-based ART on Myeloid Cell Inflammation in HIV-infected Patients. Unknown status NCT02691065 Phase 4 Integrase Inhibitor
22 Role of Inflammation Factors and Insulin Resistance in the Pathophysiology and Treatment Response of Major Depressive Disorder Unknown status NCT01699490 Phase 4 Fluoxetine + Valsartan;Fluoxetine + Placebo
23 Comparison of the Effect of Montelukast and Cetirizine on Allergic Inflammation Measured by Exhaled Nitric Oxide Concentration in Children With Seasonal Allergic Rhinitis Unknown status NCT00488176 Phase 4 montelukast;cetirizine;montelukast and cetirizine;placebo
24 Evaluation of Efficacy in the Resolution of Post-Operative Inflammation and Pain in Patients Receiving Omidria and Dexycu, or Omidria and Dextenza Compared to Topical Prednisolone Acetate 1% Following Cataract Surgery Unknown status NCT04316936 Phase 4 Omidria;Dextenza (dexamethasone ophthalmic insert) 0.4mg;Dexycu, 9% Intraocular Suspension;Prednisolone Acetate 1%
25 Metformin Administration Effect Over Systemic Inflammation Serum Markers in HIV Positive Prediabetic Patients Unknown status NCT03774108 Phase 4 Metformin Hydrochloride 850 MG
26 A Phase IV, Multicenter, Open and Randomized Study to Assess the Impact of the Change From Antiretroviral Treatment From Dual Therapy to Triple Therapy on Inflammation in Patients With Type 1 HIV Infection. InSTINCT Study Unknown status NCT04076423 Phase 4 Dual Therapy;Triple therapy
27 Efficacy of Olmesartan on Cerebral Glucose Metabolism, Vascular Inflammation and Adipose Tissue Unknown status NCT02996916 Phase 4 Olmesartan;Amlodipine
28 A Prospective Trial Evaluating a Intracanalicular Insert Delivery System Compared to Traditional Topical Drops in Controlling Post-operative Pain and inFlammation in Subjects Undergoing Sequential Bilateral Cataract Surgery Unknown status NCT04205916 Phase 4 Dexamethasone
29 Phase IV Study to Evaluate and Compare the Efficacy of PeriActive Mouthwash to Chlorhexidine 0.12% Rinse With Regards to Managing Post-surgical Inflammation Associated With Dental Implant Surgery Unknown status NCT02987634 Phase 4
30 Telmisartan vs Ramipril for Reduction of Inflammation and Recruitment of Endothelial Progenitor Cells After Acute Coronary Syndrome Unknown status NCT00702936 Phase 4 TELMISARTAN;RAMIPRIL
31 Imaging of Inflammation in the Postischemic Myocardium: Effect of Anti-inflammatory Treatment With Colchicine Unknown status NCT02281305 Phase 4 Colchicine
32 The Efficacy of Adalimumab and Conventional Antirheumatic Drugs in Alleviating Axial and Aortic Inflammation Detected in PET/CT in Patients With Axial Spondyloarthritis Unknown status NCT02634541 Phase 4 Adalimumab
33 Effects of SGLT2 Inhibitor on Markers of Inflammation, Atherosclerosis and Left Ventricular Strain in Diabetic Patients With Coronary Artery Disease Unknown status NCT03398577 Phase 4 Dapagliflozin 10 MG [Farxiga];Placebo Oral Tablet
34 Pentoxifylline Effect on Renal Function, Oxidative Stress, Inflammation, and Fibrosis Markers, and Quality of Life in Patients With Diabetic Nephropathy Unknown status NCT03664414 Phase 4 pentoxifylline
35 Synergistic Influence of Rivaroxaban on Inflammation and Coagulation Biomarkers in Patients With CAD and PAD on Aspirin Therapy Unknown status NCT04059679 Phase 4 Rivaroxaban 2.5 Mg Oral Tablet;Aspirin 81 mg
36 A Randomized, Controlled, Masked (Reading Center) Prospective Study of the Effectiveness and Safety of the Ocular Therapeutix Dextenza (Dexamethasone Ophthalmic Insert) 0.4 mg for the Treatment of Post-operative Inflammation and Pain in Patients Who Have Undergone PhotoREfractive Keratectomy (PRK) Unknown status NCT04396990 Phase 4 Dextenza 0.4Mg Ophthalmic Insert;Topical Prednisolone
37 The Effects of Omega-3 Fatty Acids on Chemotherapy-induced Neuropathy and Inflammation in Patients With Breast Cancer Unknown status NCT01049295 Phase 4
38 Taurolidine Citrate and Unfractionated Heparin Combination Versus Unfractionated Heparin Alone in Prevention of Inflammation in Hemodialysis Catheters. Unknown status NCT03539718 Phase 4 Taurolidine heparin;Heparin Sodium
39 Evaluation of DEXTENZA on the Management of Pain and Inflammation in Patients With Anterior Uveitis Compared to Standard of Care Topical Corticosteroids Unknown status NCT04426734 Phase 4 Topical Prednisolone Acetate 1%
40 Open-label, Single -Center, Prospective Study on the Efficacy and Safety of Intracanalicular Dexamethasone Insert 0.4mg (Dextenza) in the Treatment of Postoperative Pain and Inflammation Following Vitreo-retinal Surgery - The ADHERE Study Unknown status NCT04462523 Phase 4 Dextenza 0.4Mg Ophthalmic Insert;Topical Prednisolone
41 Assessing the Efficacy and Safety fo DEXTENZA, Sustained Release Dexamethasone 0.4 mg Insert(s) When Placed Within the Lower Eye Lid Canaliculus or Both the Upper and Lower Canaliculi for the Treatment of Pain, Inflammation, and Cystoid Macular Edema Following 27 Gauge Vitrectomy With Internal Limiting Membrane Peel for the Treatment of Retinal Edema Associated With Macular Pucker. Unknown status NCT04501367 Phase 4 Dexamethasone Intracanalicular Insert, 0.4 mg;Prednisone acetate 1%
42 Type 2 Diabetes Mellitus: Role of Inflammation and Innate Immunity in The Pathogenesis of Endothelial Dysfunction and Atherosclerosis Unknown status NCT01250340 Phase 4 Aspirin;Placebo
43 A Prospective, Randomized, Two Period, With an Intermediate Wash Out Period, Cross-over Study to Compare the Effects of Either Combined Therapy With Ramipril and Clopidogrel or Ramipril Monotherapy on Oxidative Stress, Vascular Inflammation and Endothelial Dysfunction in Patients With Type 2 Diabetes and Diabetic Nephropathy Unknown status NCT01743014 Phase 4 Ramipril;Clopidogrel
44 Effects of Exercise Training on Systemic Inflammation an Muscle Repair According to the Chronic Obstructive Pulmonary Disease Phenotype Unknown status NCT01431625 Phase 4
45 Phase IV, Randomized, Open Label, Crossover, Intervention Trial to Investigate the Effect of the Switch of Lopinavir/Ritonavir to Raltegravir on Endothelial Function, Chronic Inflammation, Immune Activation and HIV Replication <50 Copies/ml Unknown status NCT01453933 Phase 4 raltegravir
46 Effect of Brodalumab Compared to Placebo on Vascular Inflammation in Moderate-to-severe Psoriasis Unknown status NCT03478280 Phase 4 Brodalumab;Placebos
47 The Effect of Probiotics on the Rate of Recovery of Inflammatory Bowel Disease Exacerbation (Crohn's Disease) and Markers of Inflammation Unknown status NCT01765998 Phase 4 Probiotic;Placebo
48 Probiotic for the Restoration of Intestinal Permeability and Reduction of Intestinal Inflammation in Active Ulcerative Colitis: A Double Blind Randomized Placebo Controlled Trial Unknown status NCT01479660 Phase 4 Probiotic
49 Efficacy and Safety of PRO-155 (Zebesten Ofteno®) on Inflammation of the Conjunctival Surface in Subjects With Grade I-III Pterygium vs Placebo. Completed NCT03521791 Phase 4 PRO-155
50 "Inflammation-related Alterations in Neurocircuitry: Reversal With Levodopa"; "Inflammation Effects on Corticostriatal Connectivity and Reward: Role of Dopamine" Completed NCT02513485 Phase 4 Levodopa+carbidopa;Placebo

Search NIH Clinical Center for Proteasome-Associated Autoinflammatory Syndrome 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


ACETYLSALICYLATE SODIUM
Alclometasone
alclometasone dipropionate
amcinonide
Aspirin
ASPIRIN PWDR
Betamethasone
Betamethasone acetate
Betamethasone benzoate
betamethasone dipropionate
betamethasone sodium phosphate
Betamethasone valerate
BETAMETHASONE VALERATE PWDR
chlorophyllin copper complex
Clobetasol
Clobetasol Propionate
clocortolone
clocortolone pivalate
Desonide
Desoximetasone
Diclofenac
Diclofenac Potassium
Diclofenac Sodium
Diflorasone
diflorasone diacetate
fluocinolone
Fluocinolone Acetonide
Fluocinonide
Fluorometholone
FLUOROMETHOLONE ACETATE
Flurandrenolide
Flurbiprofen
Flurbiprofen sodium
Halcinonide
halobetasol
halobetasol propionate
homatropine
Homatropine hydrobromide
homatropine methylbromide
Hydrocortisone
hydrocortisone acetate
HYDROCORTISONE ACETATE PWDR
HYDROCORTISONE ACETONIDE
Hydrocortisone butyrate
hydrocortisone cypionate
hydrocortisone probutate
HYDROCORTISONE PWDR
Hydrocortisone sodium phosphate
Hydrocortisone sodium succinate
hydrocortisone valerate
HYDROCORTISONE,NONSTERILE PWDR
Ibuprofen
Indomethacin
INDOMETHACIN PWDR
INDOMETHACIN SODIUM
Ketorolac Tromethamine
Loteprednol
loteprednol etabonate
Meclofenamate
Meclofenamate Sodium
methyl salicylate
methyl salicylate oil
METHYL SALICYLATE,SYNTHETIC
Methylprednisolone
methylprednisolone acetate
Methylprednisolone Sodium Succinate
Mometasone
mometasone furoate
Mometasone furoate monohydrate
nabumetone
Naproxen
Naproxen sodium
Piroxicam
prednicarbate
prednisolone
prednisolone acetate
PREDNISOLONE ACETATE PWDR
PREDNISOLONE PWDR
Prednisolone sodium phosphate
prednisolone tebutate
Prednisone
PREDNISONE PWDR
rimexolone
solufenum
Sulindac
Triamcinolone
Triamcinolone Acetonide
TRIAMCINOLONE ACETONIDE PWDR
triamcinolone diacetate
triamcinolone hexacetonide
Wintergreen preparation

Genetic Tests for Proteasome-Associated Autoinflammatory Syndrome 1

Genetic tests related to Proteasome-Associated Autoinflammatory Syndrome 1:

# Genetic test Affiliating Genes
1 Proteasome-Associated Autoinflammatory Syndrome 1 28 PSMB8
2 Proteasome-Associated Autoinflammatory Syndrome 1 and Digenic Forms 28

Anatomical Context for Proteasome-Associated Autoinflammatory Syndrome 1

Organs/tissues related to Proteasome-Associated Autoinflammatory Syndrome 1:

MalaCards : Skin, Liver, Brain, Endothelial, Eye, Lung, Skeletal Muscle
ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System

Publications for Proteasome-Associated Autoinflammatory Syndrome 1

Articles related to Proteasome-Associated Autoinflammatory Syndrome 1:

(show top 50) (show all 13059)
# Title Authors PMID Year
1
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. 62 57 5
26524591 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. 62 57 5
21953331 2012
3
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. 62 57 5
21129723 2010
4
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. 62 57 5
20159315 2010
5
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. 57 5
21881205 2011
6
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. 57 5
20534754 2010
7
Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome. 57 5
8495043 1993
8
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. 62 57
21852578 2011
9
Contribution of the Unfolded Protein Response (UPR) to the Pathogenesis of Proteasome-Associated Autoinflammatory Syndromes (PRAAS). 57
31827472 2019
10
An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper gamma-globulinemia: peculiar vascular changes and muscle fiber degeneration. 57
3618123 1987
11
A syndrome with nodular erythema, elongated and thickened fingers, and emaciation. 57
4026345 1985
12
[Sibling cases with lipodystrophic skin change, muscular atrophy, recurrent skin eruptions, and deformities and contractures of the joints. A possible new clinical entity]. 57
6499339 1984
13
Nitrogen-doped nanocarbon derived from candle soot for persulfate activation on sulfamethoxazole removal: Performance and mechanism. 62
36095900 2023
14
"I want the doctors to know that I am as bright as a candle": : Experiences with and Hopes for Doctor Interactions Among Malaysian Key Populations and People Living with HIV. 62
36472685 2022
15
Effect of canagliflozin on white blood cell counts in patients with type 2 diabetes and heart failure: A subanalysis of the randomized CANDLE trial. 62
36114704 2022
16
Maternal exposure to urinary polycyclic aromatic hydrocarbons (PAH) in pregnancy and childhood asthma in a pooled multi-cohort study. 62
36279735 2022
17
Effect of Jyoti-Trataka on intraocular pressure, autonomic control, and blood glucose in diabetic patients with high-tension primary open-angle glaucoma: a randomized-controlled trial. 62
34303323 2022
18
[Clinical analysis of 49 cases of non-inflammasome related conditions]. 62
36444428 2022
19
Back-to-back: The co-occurrence of DISH and ankylosing spondylitis from early modern Poland. 62
36375277 2022
20
Trans-tympanic insertion of an angiocatheter with a stopper for treatment of patulous Eustachian tube. 62
36113313 2022
21
Optically-generated focused ultrasound for noninvasive brain stimulation with ultrahigh precision. 62
36323662 2022
22
Coronavirus-mimicking nanoparticles (CorNPs) in artificial saliva droplets and nanoaerosols: Influence of shape and environmental factors on particokinetics/particle aerodynamics. 62
36442637 2022
23
Touch Hand 4.5: low-cost additive manufacturing prosthetic hand participated in Cybathlon 2020 ARM discipline. 62
36451211 2022
24
Degradable and stretchable bio-based strain sensor for human motion detection. 62
35809444 2022
25
Melorheostosis or "Dripping Candle Wax" Bone Disease. 62
35705240 2022
26
Canagliflozin independently reduced plasma volume from conventional diuretics in patients with type 2 diabetes and chronic heart failure: a subanalysis of the CANDLE trial. 62
36380202 2022
27
Canagliflozin reduces proteinuria by targeting hyperinsulinaemia in diabetes patients with heart failure: A post hoc analysis of the CANDLE trial. 62
36193841 2022
28
Bacteriophages pass through candle-shaped porous ceramic filters: Application for the collection of viruses in soil water. 62
36314760 2022
29
Current status of National Institutes of Health funding for thoracic surgeons in the United States: Beacon of hope or candle in the wind? 62
36456359 2022
30
Commentary: National Institutes of Health funding by thoracic surgeons: It is good to have a strong beacon rather than just a candle. 62
36344314 2022
31
Cohort profile: the ECHO prenatal and early childhood pathways to health consortium (ECHO-PATHWAYS). 62
36270755 2022
32
The Current State of Visualization Techniques in Endoscopic Skull Base Surgery. 62
36291271 2022
33
[Multivisceral pancratic cytosteatonecrosis found at autopsy]. 62
34920904 2022
34
Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case. 62
36004822 2022
35
A study on the association of placental and maternal urinary phthalate metabolites. 62
36114292 2022
36
Association of prenatal exposure to ambient air pollution with adverse birth outcomes and effect modification by socioeconomic factors. 62
35640705 2022
37
Durable Hydrate-phobic Coating with In Situ Self-Replenishing Hydrocarbon Barrier Films for Low Clathrate Hydrate Adhesion. 62
36107634 2022
38
A multicenter, double-blind, randomized, parallel-group, placebo-controlled study to evaluate the efficacy and safety of camostat mesilate in patients with COVID-19 (CANDLE study). 62
36163020 2022
39
Prenatal Metabolomic Profiles Mediate the Effect of Maternal Obesity On Early Childhood Growth Trajectories and Obesity Risk: the CANDLE Study. 62
36055779 2022
40
Modified Candy-plug Device for Dilated False Lumen Occlusion: Is a Candle Better Than a Candy? 62
34953785 2022
41
Association between serum insulin levels and heart failure-related parameters in patients with type 2 diabetes and heart failure treated with canagliflozin: a post-hoc analysis of the randomized CANDLE trial. 62
35941584 2022
42
Candle Soot-Based Electrosprayed Superhydrophobic Coatings for Self-Cleaning, Anti-Corrosion and Oil/Water Separation. 62
35955231 2022
43
Risk Stratification Models for Stroke in Patients Hospitalized with COVID-19 Infection. 62
35689935 2022
44
Use of candles and risk of cardiovascular and respiratory events in a Danish cohort study. 62
36040281 2022
45
Enhanced Photoacoustic Visualisation of Clinical Needles by Combining Interstitial and Extracorporeal Illumination of Elastomeric Nanocomposite Coatings. 62
36080876 2022
46
How do people interpret implausible sentences? 62
35339795 2022
47
The association between duration of breastfeeding and childhood asthma outcomes. 62
35552008 2022
48
Maternal childhood trauma and prenatal stressors are associated with child behavioral health. 62
34666865 2022
49
Effective production of Poly(3-hydroxybutyrate-co-4-hydroxybutyrate) by engineered Halomonas bluephagenesis grown on glucose and 1,4-Butanediol. 62
35526716 2022
50
Horizontally and vertically sensitive schlieren and shadowgraph system. 62
35838739 2022

Variations for Proteasome-Associated Autoinflammatory Syndrome 1

ClinVar genetic disease variations for Proteasome-Associated Autoinflammatory Syndrome 1:

5 (show top 50) (show all 131)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSMB8 NM_148919.4(PSMB8):c.602G>T (p.Gly201Val) SNV Pathogenic
29860 rs387906680 GRCh37: 6:32809448-32809448
GRCh38: 6:32841671-32841671
2 PSMB8 NM_148919.4(PSMB8):c.313A>C (p.Lys105Gln) SNV Pathogenic
548954 rs1554239543 GRCh37: 6:32810543-32810543
GRCh38: 6:32842766-32842766
3 PSMB4 NM_002796.3(PSMB4):c.666C>A (p.Tyr222Ter) SNV Pathogenic
548958 rs1553209373 GRCh37: 1:151373804-151373804
GRCh38: 1:151401328-151401328
4 PSMB8 NM_148919.4(PSMB8):c.608_611dup (p.Asn204fs) DUP Pathogenic
933294 rs1769913209 GRCh37: 6:32809438-32809439
GRCh38: 6:32841661-32841662
5 PSMB8 NM_148919.4(PSMB8):c.421C>T (p.Arg141Ter) SNV Pathogenic
952176 rs374929612 GRCh37: 6:32810027-32810027
GRCh38: 6:32842250-32842250
6 PSMB8 NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter) SNV Pathogenic
29862 rs146254972 GRCh37: 6:32810451-32810451
GRCh38: 6:32842674-32842674
7 PSMB8 NM_148919.4(PSMB8):c.481C>T (p.Gln161Ter) SNV Pathogenic
1385379 GRCh37: 6:32809967-32809967
GRCh38: 6:32842190-32842190
8 PSMB8 NM_148919.4(PSMB8):c.224C>T (p.Thr75Met) SNV Pathogenic
659832 rs748082671 GRCh37: 6:32810790-32810790
GRCh38: 6:32843013-32843013
9 PSMB8 NC_000006.11:g.(?_32810848)_32811339del DEL Likely Pathogenic
1068011 GRCh37:
GRCh38:
10 PSMB8 NM_148919.4(PSMB8):c.686G>A (p.Arg229His) SNV Conflicting Interpretations Of Pathogenicity
356363 rs547653681 GRCh37: 6:32809364-32809364
GRCh38: 6:32841587-32841587
11 PSMB8 NM_148919.4(PSMB8):c.804G>A (p.Leu268=) SNV Conflicting Interpretations Of Pathogenicity
356361 rs371969268 GRCh37: 6:32808763-32808763
GRCh38: 6:32840986-32840986
12 PSMB8 NM_148919.4(PSMB8):c.*6G>C SNV Uncertain Significance
356360 rs371747700 GRCh37: 6:32808730-32808730
GRCh38: 6:32840953-32840953
13 PSMB8 NM_148919.4(PSMB8):c.*8G>A SNV Uncertain Significance
356359 rs376750959 GRCh37: 6:32808728-32808728
GRCh38: 6:32840951-32840951
14 PSMB8 NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) SNV Uncertain Significance
356362 rs55853041 GRCh37: 6:32809349-32809349
GRCh38: 6:32841572-32841572
15 PSMB8 NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr) SNV Uncertain Significance
583398 rs774341327 GRCh37: 6:32810785-32810785
GRCh38: 6:32843008-32843008
16 PSMB8 NM_148919.4(PSMB8):c.575G>A (p.Arg192Gln) SNV Uncertain Significance
850521 rs764672057 GRCh37: 6:32809475-32809475
GRCh38: 6:32841698-32841698
17 PSMB8 NM_148919.4(PSMB8):c.385C>T (p.Arg129Cys) SNV Uncertain Significance
870499 rs757343575 GRCh37: 6:32810471-32810471
GRCh38: 6:32842694-32842694
18 PSMB8 NM_148919.4(PSMB8):c.180C>T (p.Asp60=) SNV Uncertain Significance
907465 rs757858465 GRCh37: 6:32810834-32810834
GRCh38: 6:32843057-32843057
19 PSMB8 NM_148919.4(PSMB8):c.181G>A (p.Gly61Arg) SNV Uncertain Significance
940811 rs1007524117 GRCh37: 6:32810833-32810833
GRCh38: 6:32843056-32843056
20 PSMB8 NM_148919.4(PSMB8):c.733G>A (p.Val245Ile) SNV Uncertain Significance
954224 rs746897143 GRCh37: 6:32809317-32809317
GRCh38: 6:32841540-32841540
21 PSMB8 NM_148919.4(PSMB8):c.666A>C (p.Glu222Asp) SNV Uncertain Significance
1021668 rs754578419 GRCh37: 6:32809384-32809384
GRCh38: 6:32841607-32841607
22 PSMB8 NM_148919.4(PSMB8):c.9_10delinsCG (p.Leu4Val) INDEL Uncertain Significance
1360258 GRCh37: 6:32811764-32811765
GRCh38: 6:32843987-32843988
23 PSMB8 NM_148919.4(PSMB8):c.154G>A (p.Glu52Lys) SNV Uncertain Significance
1402300 GRCh37: 6:32810860-32810860
GRCh38: 6:32843083-32843083
24 PSMB8 NM_148919.4(PSMB8):c.151A>C (p.Thr51Pro) SNV Uncertain Significance
1396344 GRCh37: 6:32810863-32810863
GRCh38: 6:32843086-32843086
25 PSMB8 NM_148919.4(PSMB8):c.360T>G (p.Cys120Trp) SNV Uncertain Significance
1491549 GRCh37: 6:32810496-32810496
GRCh38: 6:32842719-32842719
26 PSMB8 NM_148919.4(PSMB8):c.807C>A (p.His269Gln) SNV Uncertain Significance
1714834 GRCh37: 6:32808760-32808760
GRCh38: 6:32840983-32840983
27 PSMB8 NM_148919.4(PSMB8):c.430G>A (p.Glu144Lys) SNV Uncertain Significance
1377170 GRCh37: 6:32810018-32810018
GRCh38: 6:32842241-32842241
28 PSMB8 NM_148919.4(PSMB8):c.188G>A (p.Arg63Lys) SNV Uncertain Significance
1393922 GRCh37: 6:32810826-32810826
GRCh38: 6:32843049-32843049
29 PSMB8 NM_148919.4(PSMB8):c.293T>G (p.Ile98Ser) SNV Uncertain Significance
1416540 GRCh37: 6:32810721-32810721
GRCh38: 6:32842944-32842944
30 PSMB8 NM_148919.4(PSMB8):c.710A>G (p.His237Arg) SNV Uncertain Significance
1441295 GRCh37: 6:32809340-32809340
GRCh38: 6:32841563-32841563
31 PSMB8 NM_148919.4(PSMB8):c.470A>G (p.Asn157Ser) SNV Uncertain Significance
1416466 GRCh37: 6:32809978-32809978
GRCh38: 6:32842201-32842201
32 PSMB8 NM_148919.4(PSMB8):c.727G>A (p.Gly243Arg) SNV Uncertain Significance
1431256 GRCh37: 6:32809323-32809323
GRCh38: 6:32841546-32841546
33 PSMB8 NM_148919.4(PSMB8):c.492C>T (p.Gly164=) SNV Uncertain Significance
1438739 GRCh37: 6:32809956-32809956
GRCh38: 6:32842179-32842179
34 overlap with 2 genes NC_000006.11:g.(?_32802911)_(32808844_?)dup DUP Uncertain Significance
1438989 GRCh37: 6:32802911-32808844
GRCh38:
35 PSMB8 NM_148919.4(PSMB8):c.730G>A (p.Gly244Ser) SNV Uncertain Significance
1443903 GRCh37: 6:32809320-32809320
GRCh38: 6:32841543-32841543
36 PSMB8 NM_148919.4(PSMB8):c.191A>T (p.Asn64Ile) SNV Uncertain Significance
1499765 GRCh37: 6:32810823-32810823
GRCh38: 6:32843046-32843046
37 PSMB8 NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys) INDEL Uncertain Significance
568159 rs1562352512 GRCh37: 6:32810846-32810847
GRCh38: 6:32843069-32843070
38 PSMB8 NM_148919.4(PSMB8):c.350T>C (p.Met117Thr) SNV Uncertain Significance
858244 rs1769996135 GRCh37: 6:32810506-32810506
GRCh38: 6:32842729-32842729
39 PSMB8 NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn) SNV Uncertain Significance
870500 rs1769994178 GRCh37: 6:32810489-32810489
GRCh38: 6:32842712-32842712
40 PSMB8 NM_148919.4(PSMB8):c.*231C>T SNV Uncertain Significance
904861 rs539015992 GRCh37: 6:32808505-32808505
GRCh38: 6:32840728-32840728
41 PSMB8 NM_148919.4(PSMB8):c.167C>A (p.Ser56Tyr) SNV Uncertain Significance
356367 rs886061310 GRCh37: 6:32810847-32810847
GRCh38: 6:32843070-32843070
42 PSMB8 NM_148919.4(PSMB8):c.-35C>T SNV Uncertain Significance
356371 rs886061311 GRCh37: 6:32811808-32811808
GRCh38: 6:32844031-32844031
43 PSMB8 NM_148919.4(PSMB8):c.*178G>A SNV Uncertain Significance
356357 rs886061309 GRCh37: 6:32808558-32808558
GRCh38: 6:32840781-32840781
44 PSMB8 NM_148919.4(PSMB8):c.272G>A (p.Arg91Gln) SNV Uncertain Significance
959397 rs780859553 GRCh37: 6:32810742-32810742
GRCh38: 6:32842965-32842965
45 PSMB8 NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu) SNV Uncertain Significance
961098 rs141273371 GRCh37: 6:32809388-32809388
GRCh38: 6:32841611-32841611
46 PSMB8 NM_148919.4(PSMB8):c.*116C>T SNV Uncertain Significance
904863 rs56138642 GRCh37: 6:32808620-32808620
GRCh38: 6:32840843-32840843
47 PSMB8 NM_148919.4(PSMB8):c.*57C>T SNV Uncertain Significance
904864 rs1371496516 GRCh37: 6:32808679-32808679
GRCh38: 6:32840902-32840902
48 PSMB8 NM_148919.4(PSMB8):c.331C>A (p.Pro111Thr) SNV Uncertain Significance
953261 rs1769997640 GRCh37: 6:32810525-32810525
GRCh38: 6:32842748-32842748
49 PSMB8 NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) SNV Uncertain Significance
465423 rs368551668 GRCh37: 6:32808752-32808752
GRCh38: 6:32840975-32840975
50 PSMB8 NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp) SNV Uncertain Significance
569029 rs200995701 GRCh37: 6:32809319-32809319
GRCh38: 6:32841542-32841542

UniProtKB/Swiss-Prot genetic disease variations for Proteasome-Associated Autoinflammatory Syndrome 1:

73
# Symbol AA change Variation ID SNP ID
1 PSMB8 p.Thr75Met VAR_065291 rs748082671
2 PSMB8 p.Gly201Val VAR_066449 rs387906680
3 PSMB8 p.Lys105Gln VAR_075257 rs1554239543

Expression for Proteasome-Associated Autoinflammatory Syndrome 1

Search GEO for disease gene expression data for Proteasome-Associated Autoinflammatory Syndrome 1.

Pathways for Proteasome-Associated Autoinflammatory Syndrome 1

Pathways related to Proteasome-Associated Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 CCL2 CRP CXCL10 CXCL8 ICAM1 IFNG
2
Show member pathways
13.88 TNF PTGS2 IL6 IL5 IL1B IL10
3
Show member pathways
13.72 TNF PTGS2 IL6 IL5 IL1B IL10
4
Show member pathways
13.64 CCL2 CXCL8 ICAM1 IFNG IL10 IL1B
5
Show member pathways
13.49 TNF IL6 IL5 IL1B IL10 CXCL8
6
Show member pathways
13.4 TNF IL6 IL5 IL1B IL10 CXCL8
7
Show member pathways
13.29 VCAM1 TNF PTGS2 PSMB8 PSMB4 IL6
8
Show member pathways
12.89 TNF IL6 IL1B CXCL8 CXCL10
9
Show member pathways
12.88 TNF PTGS2 PSMB4 IL6 IL1B
10 12.83 SELE NLRP3 IL6 IL1B IL10 CXCL10
11
Show member pathways
12.81 CCL2 IFNG IL1B PTGS2 TNF
12
Show member pathways
12.76 TNF PSMB8 IL6 IL5 IL1B IL10
13
Show member pathways
12.72 CCL2 IFNG IL10 IL1B IL6 TNF
14
Show member pathways
12.7 SELE IFNG ICAM1 CRP ADIPOQ
15
Show member pathways
12.7 TNF PTGS2 IL6 IL1B CXCL8
16 12.64 CCL2 CXCL10 IFNG IL10 IL1B PSMB8
17
Show member pathways
12.63 TNF NLRP3 IL6 IL1B CXCL8
18
Show member pathways
12.56 TNF IL6 IL1B IFNG CXCL8 CXCL10
19
Show member pathways
12.52 VCAM1 SELE PTGS2 ICAM1 CCL2
20
Show member pathways
12.46 TNF PTGS2 IL6 IL1B IFNG CXCL8
21
Show member pathways
12.42 TNF PTGS2 IL6 CXCL8 CXCL10 CCL2
22 12.31 TNF IL6 IL1B IL10 CXCL8
23 12.27 TNF PTGS2 IL6 IFNG
24 12.25 TNF IL6 IL1B IL10 IFNG
25
Show member pathways
12.23 TNF IL5 IL10 IFNG
26 12.15 TNF IL6 IL5 IL10 IFNG
27
Show member pathways
12.07 TNF IL6 IL1B IL10 IFNG
28 12.06 CXCL8 IFNG IL1B IL6
29 12.05 VCAM1 IL6 IL10 CXCL8 CCL2
30 12.05 TNF IL5 IL1B IL10 IFNG CXCL8
31 11.95 TNF IL5 IL1B IL10 IFNG
32 11.95 CXCL8 ICAM1 IFNG IL5 IL6 SELE
33
Show member pathways
11.93 TNF NLRP3 IL1B IFNG
34 11.93 TNF IL6 IL1B ICAM1 CXCL8 CCL2
35
Show member pathways
11.91 IL6 CXCL8 CRP CCL2
36 11.91 TNF IL6 IL1B IL10 IFNG
37 11.89 TNF IL6 IL10 IFNG CRP
38 11.88 IL6 IL5 IL10 IFNG CXCL8 CCL2
39
Show member pathways
11.86 TNF PTGS2 IL5 IFNG CXCL8
40 11.84 CCL2 CXCL8 ICAM1 IL10 IL1B IL6
41 11.82 TNF IL6 IL5 IL1B CXCL8 CCL2
42 11.81 IL6 IL10 IFNG
43 11.81 TNF IL6 IL1B IL10
44 11.81 CXCL8 ICAM1 IL10 IL6 TNF VCAM1
45
Show member pathways
11.8 TNF IL6 IL5 IL10 IFNG
46 11.77 IL6 IL1B IFNG
47 11.76 SELE IL6 IFNG CXCL8
48 11.73 CCL2 CXCL8 IFNG IL6 TNF
49 11.71 TNF IL10 CXCL8 CCL2
50 11.7 VCAM1 TNF SELE IL10 ICAM1 CCL2

GO Terms for Proteasome-Associated Autoinflammatory Syndrome 1

Cellular components related to Proteasome-Associated Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.05 TNF RNASE3 NLRP3 IL6 IL5 IL1B
2 extracellular space GO:0005615 9.8 ADIPOQ CCL2 CRP CXCL10 CXCL8 ICAM1

Biological processes related to Proteasome-Associated Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.57 TNF NLRP3 IL6 IL5 IL1B IL10
2 negative regulation of cell population proliferation GO:0008285 10.44 CXCL8 IL10 IL1B IL6 PTGS2 TNF
3 positive regulation of interleukin-6 production GO:0032755 10.29 IFNG IL1B IL6 TNF
4 positive regulation of DNA-binding transcription factor activity GO:0051091 10.29 TNF IL6 IL5 IL1B IL10
5 neutrophil chemotaxis GO:0030593 10.26 CCL2 CXCL10 CXCL8 IL1B
6 negative regulation of inflammatory response GO:0050728 10.24 NLRP3 MEFV IL10 ADIPOQ
7 regulation of inflammatory response GO:0050727 10.23 TNF SELE PTGS2 NLRP3
8 positive regulation of interleukin-8 production GO:0032757 10.22 TNF IL6 IL1B ADIPOQ
9 humoral immune response GO:0006959 10.21 CCL2 IFNG IL6 TNF
10 cellular response to virus GO:0098586 10.2 NLRP3 IL6 IFNG CXCL10
11 cellular response to amyloid-beta GO:1904646 10.19 VCAM1 TNF ICAM1
12 response to bacterium GO:0009617 10.19 TNF CXCL10 CCL2 ADIPOQ
13 response to activity GO:0014823 10.19 ADIPOQ IL10 IL6 TNF
14 lipopolysaccharide-mediated signaling pathway GO:0031663 10.18 CCL2 IL1B TNF
15 positive regulation of cytokine production GO:0001819 10.18 IFNG IL10 IL1B TNF
16 regulation of insulin secretion GO:0050796 10.18 IFNG IL1B IL6 TNF
17 leukocyte cell-cell adhesion GO:0007159 10.16 VCAM1 SELE ICAM1
18 response to tumor necrosis factor GO:0034612 10.16 SELE PTGS2 ADIPOQ
19 liver regeneration GO:0097421 10.16 TNF IL6 IL10
20 positive regulation of vascular endothelial growth factor production GO:0010575 10.15 IL1B IL6 PTGS2
21 positive regulation of immunoglobulin production GO:0002639 10.15 IL6 IL5 IL10
22 negative regulation of neurogenesis GO:0050768 10.14 TNF IL6 IL1B
23 positive regulation of nitric oxide biosynthetic process GO:0045429 10.14 TNF PTGS2 IL1B IFNG
24 positive regulation of inflammatory response GO:0050729 10.13 IFNG IL1B MEFV NLRP3 TNF
25 positive regulation of interleukin-1 beta production GO:0032731 10.13 TNF NLRP3 MEFV IL6 IFNG
26 leukocyte tethering or rolling GO:0050901 10.12 VCAM1 TNF SELE
27 positive regulation of chemokine production GO:0032722 10.11 TNF IL6 IL1B IFNG
28 positive regulation of receptor signaling pathway via JAK-STAT GO:0046427 10.11 TNF IL6 IL5 IL10
29 defense response to Gram-positive bacterium GO:0050830 10.11 TNF RNASE3 NLRP3 IL6 IL1B CRP
30 positive regulation of glial cell proliferation GO:0060252 10.1 TNF IL6 IL1B
31 response to glucocorticoid GO:0051384 10.1 ADIPOQ IL10 IL6 PTGS2 TNF
32 positive regulation of membrane protein ectodomain proteolysis GO:0051044 10.09 TNF IL1B IFNG
33 positive regulation of heterotypic cell-cell adhesion GO:0034116 10.08 TNF IL1B IL10
34 astrocyte activation GO:0048143 10.08 TNF IL1B IFNG
35 acute inflammatory response GO:0002526 10.04 NLRP3 TNF VCAM1
36 positive regulation of neuroinflammatory response GO:0150078 10.03 IL1B IL6 TNF
37 negative regulation of lipid storage GO:0010888 10.02 TNF IL6 CRP
38 negative regulation of cytokine production involved in immune response GO:0002719 10.01 TNF IL10
39 membrane to membrane docking GO:0022614 10.01 VCAM1 ICAM1
40 response to fructose GO:0009750 10.01 TNF PTGS2
41 cellular response to interleukin-17 GO:0097398 10 IL1B CXCL10
42 defense response GO:0006952 10 TNF NLRP3 CXCL8 CXCL10
43 immune response GO:0006955 10 CCL2 CXCL10 CXCL8 IFNG IL10 IL1B
44 sequestering of triglyceride GO:0030730 9.99 TNF IL1B
45 positive regulation of nitrogen compound metabolic process GO:0051173 9.97 TNF IFNG
46 vascular endothelial growth factor production GO:0010573 9.97 TNF IL6 IL1B
47 positive regulation of vitamin D biosynthetic process GO:0060557 9.96 TNF IFNG
48 chronic inflammatory response to antigenic stimulus GO:0002439 9.95 TNF IL10
49 positive regulation of fever generation GO:0031622 9.93 IL1B PTGS2 TNF
50 response to lipopolysaccharide GO:0032496 9.9 VCAM1 TNF SELE PTGS2 IL1B IL10

Molecular functions related to Proteasome-Associated Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.55 TNF IL6 IL5 IL1B IL10 IFNG

Sources for Proteasome-Associated Autoinflammatory Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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