PRAAS1
MCID: PRT133
MIFTS: 81

Proteasome-Associated Autoinflammatory Syndrome 1 (PRAAS1)

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

Aliases & Classifications for Proteasome-Associated Autoinflammatory Syndrome 1

MalaCards integrated aliases for Proteasome-Associated Autoinflammatory Syndrome 1:

Name: Proteasome-Associated Autoinflammatory Syndrome 1 56 73 29 6
Jmp Syndrome 56 12 52 73 15
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 56 25 73 13
Nakajo-Nishimura Syndrome 56 25 73
Nkjo 56 25 73
Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy 56 12
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 56 73
Proteasome-Associated Autoinflammatory Syndrome 1 and Digenic Forms 56 29
Nakajo Syndrome 25 73
Praas1 56 73
Candle 56 73
Aldd 56 25
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome; Candle 56
Joint Contractures - Muscle Atrophy - Microcytic Anemia - Panniculitis-Induced Lipodystrophy 52
Joint Contractures Muscular Atrophy Microcytic Anemia and Panniculitis-Induced Lipodystrophy 73
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature 52
Chronic Atypical Neutrophilic Dermatosis-Lipodystrophy-Elevated Temperature Syndrome 52
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome; Aldd 56
Autoinflammation Lipodystrophy and Dermatosis Syndrome 36
Japanese Autoinflammatory Syndrome with Lipodystrophy 25
Secondary Hypertrophic Osteoperiostosis with Pernio 73
Autoinflammation-Lipodystrophy-Dermatosis Syndrome 58
Proteasome-Associated Autoinflammatory Syndrome 58
Nodular Erythema with Digital Changes 73
Nakajo-Nishimura Syndrome; Nkjo 56
Proteasome Disability Syndrome 58
Amyotrophy Fat Tissue Anomaly 52
Nakajo Nishimura Syndrome 52
Candle Syndrome 52
Aldd Syndrome 58
Inflammation 43
Praas 58
Jasl 25
Nns 73

Characteristics:

Orphanet epidemiological data:

58
proteasome-associated autoinflammatory syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
proteasome-associated autoinflammatory syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Rare endocrine diseases


Summaries for Proteasome-Associated Autoinflammatory Syndrome 1

Genetics Home Reference : 25 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 bone inflammation disease and mastitis. An important gene associated with Proteasome-Associated Autoinflammatory Syndrome 1 is PSMB8 (Proteasome 20S Subunit Beta 8), and among its related pathways/superpathways are Proteasome and Innate Immune System. The drugs Triamcinolone and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include endothelial, lung and liver, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 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.

NIH Rare Diseases : 52 Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature , also known as CANDLE syndrome , is a rare autoinflammatory condition . Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura , swollen eyelids, joint pain, contractures , developmental delay and progressive lipodystrophy . CANDLE syndrome is often caused by changes (mutations ) in the PSMB8 gene and is inherited in an autosomal recessive manner. In some cases, the underlying genetic cause is unknown. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.

OMIM : 56 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)

KEGG : 36 Autoinflammation lipodystrophy and dermatosis syndrome (ALDD) is a systemic inflammatory condition characterized by recurrent episodes of fever, cutaneous lesions, lipodystrophy, and visceral inflammatory manifestations. In 2011, several studies showed that a number of disorders referred to as joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) syndrome, Nakajo-Nishimura syndrome, Japanese autoinflammatory syndrome with lipodystrophy (JASL), and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome are caused by mutations in proteasome subunit beta type 8 (PSMB8) gene, indicating that these disorders are disease phenotypes along the same disease spectrum. Key symptoms include a persistent fever (higher than 38.5 degrees Celsius), steroid-sensitive erythema nodosum-like (edematous and purpuric) plaques, long clubbed fingers, hyperhidrosis, myositis, hepatosplenomegaly, macroglossia, facial and limbs lipoatrophy, and developmental (height, weight, and IQ) retardation. Skin biopsies show immature myeloid-lineage cells with mitoses. Some patients may have joint contracture, auricular and nasal chondritis, and calcification of the basal ganglia. Acute cardiovascular event is the leading cause of death in these patients for whom life expectancy is notably reduced. Management of these patients is by palliative care. The need for steroids is very high even in combination with anti IL-1, anti IL-6 or anti-TNF treatments.

UniProtKB/Swiss-Prot : 73 Proteasome-associated autoinflammatory syndrome 1: 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.

Wikipedia : 74 Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) syndrome... more...

Related Diseases for Proteasome-Associated Autoinflammatory Syndrome 1

Diseases in the Proteasome-Associated Autoinflammatory Syndrome 1 family:

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

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

(show top 50) (show all 3172)
# Related Disease Score Top Affiliating Genes
1 bone inflammation disease 33.9 TNF TLR3 TLR2 PTGS2 NLRP3 IL6
2 mastitis 33.8 TLR2 IL6 ICAM1 CXCL8
3 panuveitis 33.7 TNF IL6 IL10 CRP
4 tenosynovitis 33.7 TNF IL6 CRP
5 orchitis 33.6 TNF IL6 IL1B IL10 CRP
6 blepharitis 33.5 TNF IL6 IL1B
7 post-thrombotic syndrome 33.4 IL6 ICAM1 CCL2
8 myocarditis 33.4 TNF TLR3 IL6 IL1B IL10 IFNG
9 posterior uveitis 33.3 TNF IL6 IFNG
10 transverse myelitis 33.2 TNF IL6 IL10 CXCL8
11 vogt-koyanagi-harada disease 33.2 TLR3 TLR2 IL10 IFNG
12 choroiditis 33.2 TNF IL10 IFNG
13 neuromyelitis optica 33.1 IL6 IL1B CXCL10 CRP
14 cinca syndrome 33.1 NLRP3 MEFV IL1B
15 fatty liver disease 33.1 TNF IL6 IL1B CXCL8 CRP ADIPOQ
16 blau syndrome 33.1 TNF TLR2 NLRP3 MEFV IL1B IL10
17 chronic granulomatous disease 33.0 TNF IL1B IFNG ICAM1 CXCL8
18 juvenile arthritis 33.0 IL6 IL10 CXCL8 CRP
19 inflammatory bowel disease 1 33.0 TNF TLR2 IL6
20 ulcerative colitis 33.0 TNF IL6 IL1B IL10 IFNG ICAM1
21 kawasaki disease 33.0 TNF IL6 IL1B IL10 CRP CCL2
22 petrositis 33.0 IFNG CRP
23 hidradenitis suppurativa 33.0 TNF IL1B IFNG
24 intermediate uveitis 33.0 TNF IL6 IL10 IFNG
25 myelitis 32.9 TNF IL6 IL10 CXCL8
26 polyarteritis nodosa 32.9 MEFV IL6 ICAM1 CRP
27 gastritis 32.9 TNF PTGS2 IL6 IL1B IL10 CXCL8
28 salpingitis 32.9 TNF TLR2 CRP
29 acute pancreatitis 32.9 TNF IL6 IL1B IL10 CXCL8 CRP
30 allergic asthma 32.9 TLR2 RNASE3 IL10 IFNG ICAM1 CXCL8
31 lymphadenitis 32.9 TNF IL1B IL10 IFNG ICAM1 CXCL8
32 cryptogenic organizing pneumonia 32.9 TNF CXCL8 CRP
33 iridocyclitis 32.9 TNF IL6 IL10 CRP
34 periapical granuloma 32.9 TLR2 CXCL8 CCL2
35 laryngitis 32.8 TNF IL6 IL1B CRP
36 tropical spastic paraparesis 32.8 IL6 IL10 IFNG
37 rosacea 32.8 TNF TLR2 IL6 CXCL8 CRP
38 ileitis 32.8 TNF TLR2 IL6 IL10
39 hypersensitivity vasculitis 32.8 TNF MEFV IL6 CRP
40 orofacial granulomatosis 32.8 TNF IL10 IFNG
41 temporal arteritis 32.8 TNF IL6 IL1B IFNG CRP CCL2
42 iritis 32.8 TNF IL6 CRP
43 juvenile rheumatoid arthritis 32.8 TNF IL6 IL1B IL10 IFNG CXCL8
44 synovitis 32.8 TNF IL6 IL1B ICAM1 CXCL8 CRP
45 eales disease 32.8 TNF IL6 IL1B IL10 IFNG
46 diverticulitis 32.8 TNF IL6 CRP
47 henoch-schoenlein purpura 32.8 RNASE3 MEFV ICAM1 CRP
48 pancreatitis 32.8 TNF IL6 IL1B IL10 CRP
49 periodic fever, familial, autosomal dominant 32.8 TNF NLRP3 MEFV IL6 IL1B CXCL8
50 non-alcoholic steatohepatitis 32.8 TNF TLR2 IL6 CXCL8 CXCL10 CCL2

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:

31 (show top 50) (show all 58)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 hallmark (90%) HP:0001744
2 hepatomegaly 31 hallmark (90%) HP:0002240
3 joint stiffness 31 hallmark (90%) HP:0001387
4 lipoatrophy 31 hallmark (90%) HP:0100578
5 skin rash 31 hallmark (90%) HP:0000988
6 subcutaneous nodule 31 hallmark (90%) HP:0001482
7 arthralgia 31 hallmark (90%) HP:0002829
8 hyperostosis 31 hallmark (90%) HP:0100774
9 arthrogryposis multiplex congenita 31 hallmark (90%) HP:0002804
10 elevated erythrocyte sedimentation rate 31 hallmark (90%) HP:0003565
11 recurrent fever 31 hallmark (90%) HP:0001954
12 erythema nodosum 31 hallmark (90%) HP:0012219
13 abnormality of the leydig cells 31 hallmark (90%) HP:0010789
14 muscle weakness 31 frequent (33%) HP:0001324
15 hyperhidrosis 31 frequent (33%) HP:0000975
16 skeletal muscle atrophy 31 frequent (33%) HP:0003202
17 clubbing of toes 31 frequent (33%) HP:0100760
18 lymphadenopathy 31 frequent (33%) HP:0002716
19 clubbing of fingers 31 frequent (33%) HP:0100759
20 increased circulating antibody level 31 frequent (33%) HP:0010702
21 macroglossia 31 occasional (7.5%) HP:0000158
22 macrotia 31 occasional (7.5%) HP:0000400
23 short stature 31 occasional (7.5%) HP:0004322
24 intellectual disability, mild 31 occasional (7.5%) HP:0001256
25 abnormal pyramidal sign 31 occasional (7.5%) HP:0007256
26 cardiomegaly 31 occasional (7.5%) HP:0001640
27 arrhythmia 31 occasional (7.5%) HP:0011675
28 thick lower lip vermilion 31 occasional (7.5%) HP:0000179
29 congestive heart failure 31 occasional (7.5%) HP:0001635
30 microcytic anemia 31 occasional (7.5%) HP:0001935
31 respiratory insufficiency 31 occasional (7.5%) HP:0002093
32 arachnodactyly 31 occasional (7.5%) HP:0001166
33 right bundle branch block 31 occasional (7.5%) HP:0011712
34 prominent nose 31 occasional (7.5%) HP:0000448
35 seizure 31 occasional (7.5%) HP:0001250
36 failure to thrive 31 HP:0001508
37 hypertriglyceridemia 31 HP:0002155
38 anemia 31 HP:0001903
39 erythema 31 HP:0010783
40 osteopenia 31 HP:0000938
41 elevated hepatic transaminase 31 HP:0002910
42 thrombocytopenia 31 HP:0001873
43 elbow flexion contracture 31 HP:0002987
44 lipodystrophy 31 HP:0009125
45 conjunctivitis 31 HP:0000509
46 flexion contracture of toe 31 HP:0005830
47 camptodactyly of finger 31 HP:0100490
48 bone pain 31 HP:0002653
49 episcleritis 31 HP:0100534
50 panniculitis 31 HP:0012490

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
macroglossia
thick lips

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)

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)

Abdomen Liver:
hepatomegaly

Growth Other:
failure to thrive
poor growth

Head And Neck Eyes:
conjunctivitis
episcleritis

Immunology:
lymphadenopathy
antinuclear autoantibodies (in some)

Skeletal Hands:
long fingers
finger swelling
clubbed fingers
finger contractures, severe
hand contractures, severe
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.47 CXCL8 IL10 IL1B NLRP3 PSMB8 TNF
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.47 CXCL8 ICAM1 IL10 IL1B NLRP3 PSMB8
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.47 ICAM1

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

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10.34 ADIPOQ CCL2 CRP CXCL10 ICAM1 IFNG
2 hematopoietic system MP:0005397 10.32 ADIPOQ CXCL10 ICAM1 IFNG IL10 IL1B
3 homeostasis/metabolism MP:0005376 10.3 ADIPOQ CRP CXCL10 ICAM1 IFNG IL10
4 cardiovascular system MP:0005385 10.29 ADIPOQ CRP CXCL10 ICAM1 IFNG IL10
5 integument MP:0010771 10.14 ADIPOQ ICAM1 IFNG IL10 IL1B IL6
6 digestive/alimentary MP:0005381 10.1 ICAM1 IFNG IL10 IL6 NLRP3 PTGS2
7 liver/biliary system MP:0005370 10.02 ADIPOQ IFNG IL10 IL6 MEFV NLRP3
8 neoplasm MP:0002006 10 ADIPOQ ICAM1 IFNG IL10 IL1B IL6
9 muscle MP:0005369 9.97 ADIPOQ ICAM1 IFNG IL10 IL6 PTGS2
10 nervous system MP:0003631 9.93 ADIPOQ CXCL10 ICAM1 IFNG IL10 IL1B
11 respiratory system MP:0005388 9.56 ADIPOQ IFNG IL10 IL6 PTGS2 TLR2
12 skeleton MP:0005390 9.32 ADIPOQ IFNG IL10 IL1B IL6 MEFV

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 1392)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
3
Adefovir dipivoxil Approved, Investigational Phase 4 142340-99-6 60871
4
Permethrin Approved, Investigational Phase 4 52645-53-1 40326
5
Fusidic Acid Approved, Investigational Phase 4 6990-06-3 3000226
6
Eptifibatide Approved, Investigational Phase 4 188627-80-7 123610
7
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
8 Taurolidine Approved, Investigational Phase 4 19388-87-5
9
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
10
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
11
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
12
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
13
Amlodipine Approved Phase 4 88150-42-9 2162
14
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
15
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 9865442 444025
16
Linagliptin Approved Phase 4 668270-12-0 10096344
17
Bromfenac Approved Phase 4 91714-94-2 60726
18
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
19
leucovorin Approved Phase 4 58-05-9 6006 143
20
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
21
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
22
Triclosan Approved, Investigational Phase 4 3380-34-5 5564
23
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
24
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
25
Azithromycin Approved Phase 4 83905-01-5 447043 55185
26
Cetirizine Approved Phase 4 83881-51-0 2678
27
Pravastatin Approved Phase 4 81093-37-0 54687
28
Saw palmetto Approved, Experimental, Investigational Phase 4
29 Brodalumab Approved, Investigational Phase 4 1174395-19-7
30
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
31
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
32
Insulin aspart Approved Phase 4 116094-23-6 16132418
33
Desflurane Approved Phase 4 57041-67-5 42113
34
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
35
Nandrolone decanoate Approved, Illicit Phase 4 360-70-3 9677
36
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 4 62-90-8 229455
37
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 54677470 5281106
38
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 5271565 637568
39
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
40
Leflunomide Approved, Investigational Phase 4 75706-12-6 3899
41
Aminosalicylic Acid Approved Phase 4 65-49-6 4649
42
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
43
Omalizumab Approved, Investigational Phase 4 242138-07-4
44
Chloramphenicol Approved, Vet_approved Phase 4 56-75-7 298 5959
45
Ranibizumab Approved Phase 4 347396-82-1 459903
46
Ceftazidime Approved Phase 4 72558-82-8, 78439-06-2 5481173
47
Fenofibrate Approved Phase 4 49562-28-9 3339
48
Bevacizumab Approved, Investigational Phase 4 216974-75-3
49
Imiquimod Approved, Investigational Phase 4 99011-02-6 57469
50
Abciximab Approved Phase 4 143653-53-6

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 The Effect of TRADJENTA ® (LINAGLIPTIN) on Inflammation, Oxidative Stress and Insulin Resistance in Obese Type 2 Diabetes Subjects Unknown status NCT02372630 Phase 4 Linagliptin;Placebo
2 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
3 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
4 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
5 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
6 The Effect of Ferric Citrate on Inflammation and Lipid Levels in Patients on Hemodialysis Unknown status NCT02661295 Phase 4 Ferric Citrate
7 The Effect of Perioperative Atenolol on Post-Operative Cytokines Unknown status NCT00202358 Phase 4 atenolol;placebo
8 Efficiency Study of Aspirin to Prevent the Occurrence of Prostate Cancer Unknown status NCT02757365 Phase 4 aspirin;Levofloxacin
9 Clinical Impact of Bacteriuria on Chronic Inflammation in Asymptomatic Hemodialysis Patients Unknown status NCT01570556 Phase 4
10 The Treatment Effect of Inhaled Corticosteroid and Long-acting beta2 Agonist Combination Versus Long-acting Anti-cholinergic Agent on Stratified COPD Patients Based on the Levels of Exhaled Nitric Oxide Unknown status NCT02546349 Phase 4 fluticasone/salmeterol, tiotropium
11 Imaging of Inflammation in the Postischemic Myocardium: Effect of Anti-inflammatory Treatment With Colchicine Unknown status NCT02281305 Phase 4 Colchicine
12 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
13 Clinical Study of Xingnaojing for the Treatment of Convulsive Diseases Unknown status NCT00796380 Phase 4 Xingnaojing
14 Vascular Benefits of Adding CarvedilolCR to Type2 Diabetic Patients on ACEI:Effects on Oxidative Stress and Inflammation. Unknown status NCT00430040 Phase 4 carvedilol;lisinopril
15 Fat, Inflammation and Insulin Resistance (FIRE-Study) Unknown status NCT01054989 Phase 4
16 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
17 Randomized, Open Label, Controlled Clinical Trial of Egg Albumin-Based Protein Supplement Versus Renal Specific Oral Supplement in Hemodialysis Patients Unknown status NCT01981083 Phase 4
18 Effect of Atorvastatin on Inflammatory Atherosclerotic Plaques Assessed by FDG-PET Imaging Unknown status NCT00920101 Phase 4 Atorvastatin
19 Inflammatory Markers and Cognitive Function in Major Depression:a Pilot Study Unknown status NCT01391221 Phase 4 Duloxetine
20 Volume Kinetics for 20% Albumin in Conscious and Anesthetized Humans With and Without Inflammation Unknown status NCT02556580 Phase 4 Albumin 20%
21 The Clinical Use of Probiotics in the Uremia Patients Under Chronic Peritoneal Dialysis Unknown status NCT01076426 Phase 4 Pro-biotics
22 The Role of Ketamine in Preventing Cognitive Dysfunctions in Postoperative Period of Cardiac Surgery Unknown status NCT02782429 Phase 4 Ketamine
23 Telmisartan vs Ramipril for Reduction of Inflammation and Recruitment of Endothelial Progenitor Cells After Acute Coronary Syndrome Unknown status NCT00702936 Phase 4 TELMISARTAN;RAMIPRIL
24 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
25 The Effects of the Etonogestrel 0.12mg/Ethinyl Estradiol 0.015mg Vaginal Ring (NuvaRing®) on Vaginal Innate and Inflammatory Biomarkers Unknown status NCT01448291 Phase 4 Etonogestrel /Ethinyl Estradiol Contraceptive Vaginal Ring
26 Dexmedetomidine Hydrochloride in the Prevention of Organ Failure Following Unknown status NCT02691598 Phase 4 Infusion
27 A Phase IV, Single-site, Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
28 Does Rosuvastatin Delay Progression of Atherosclerosis in People With HIV Infection at Moderate Cardiovascular Risk? A Multicentre Randomized, Double Blind Placebo-controlled Trial Unknown status NCT01813357 Phase 4 Rosuvastatin
29 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
30 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
31 Adalimumab to Mitigate Cardiovascular Risk in RA Patients With Well-Controlled Joint Disease Unknown status NCT01893996 Phase 4 Adalimumab;Placebo
32 Investigating Whether the Magnitude of Postoperative Inflammatory and Insulin Resistant Responses is Related to Body Composition and Physiological Function of Skeletal Muscle & Adipose Tissue Unknown status NCT01470534 Phase 4
33 Role Of Saccharomyces Boulardii In Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4 Saccharomyces boulardii;Methyl cellulose powder (low viscosity)
34 The Effects of Omega-3 Fatty Acids on Chemotherapy-induced Neuropathy and Inflammation in Patients With Breast Cancer Unknown status NCT01049295 Phase 4
35 Effects of Nutritional Supplementation in Malnourished Patients in Stable COPD:a Randomised Controlled Trial Unknown status NCT02197871 Phase 4
36 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
37 Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE Unknown status NCT03001401 Phase 4
38 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
39 Maraviroc Abacavir STudy - Effect on Endothelial Recovery Unknown status NCT01389063 Phase 4 Maraviroc
40 Comparison of The Influence of Ticagrelor And Clopidogrel on Inflammatory Biomarkers And Vascular Endothelial Function For Patients With ST-Segment Elevation Myocardial Infarction Receiving Emergency Percutaneous Coronary Intervention Unknown status NCT02123004 Phase 4 Ticagrelor;Clopidogrel
41 Efficacy of Long-term Telbivudine Treatment on Histological Improvements in Patients With Chronic Hepatitis B (EFFORT Further Extension Study) Unknown status NCT02826070 Phase 4 Telbivudine;Adefovir dipivoxil
42 Effect of Doxium on High Sensitivity CRP and Endothelin-1 Serum Levels in Patients With Diabetic Retinopathy Unknown status NCT01382498 Phase 4 Calcium dobesilate (Doxium);Placebo drug
43 Safety and Efficacy of Clobetasol Propionate 0.05% E Foam in the Treatment of Central Centrifugal Cicatricial Alopecia Unknown status NCT01111981 Phase 4 Clobetasol Propionate 0.05% Emollient Foam
44 The Efficacy of Intravenous Pulses of Methylprednisolone in the Treatment of Patients With Ocular Involvement in Behcet's Disease, a Double Blind Pilot Study Unknown status NCT01306955 Phase 4 methylorednisolone
45 Effects of Thalidomide on Left Ventricular Morphology and Function in Patients With Congestive Heart Failure - The THUNDER Trial Unknown status NCT01640639 Phase 4 Thalidomide;Placebo
46 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
47 Effects of Different Therapies on Surrogate Markers of Cardiovascular Risk in Women With Polycystic Ovary Syndrome (PCOS) Unknown status NCT01798875 Phase 4 oral metformin;oral contraceptive
48 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
49 Evaluation of Suprapubic Noble Metal Alloy BIP Foley Catheter in the Prevention of Catheter-associated Urinary Tract Infections in Spinal Cord Injured Patients Unknown status NCT02808000 Phase 4
50 Effect of Intravenous Administration of C1-inhibitor on Inflammation and Coagulation After Bronchial Instillation of House Dust Mite Allergen and Lipopolysaccharide in Allergic Asthma Patients Unknown status NCT03051698 Phase 4 C1-inhibitor;Antibiotics

Search NIH Clinical Center for Proteasome-Associated Autoinflammatory Syndrome 1

Cochrane evidence based reviews: inflammation

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 29 PSMB8
2 Proteasome-Associated Autoinflammatory Syndrome 1 and Digenic Forms 29

Anatomical Context for Proteasome-Associated Autoinflammatory Syndrome 1

MalaCards organs/tissues related to Proteasome-Associated Autoinflammatory Syndrome 1:

40
Endothelial, Lung, Liver, Heart, Neutrophil, Kidney, Skin

Publications for Proteasome-Associated Autoinflammatory Syndrome 1

Articles related to Proteasome-Associated Autoinflammatory Syndrome 1:

(show top 50) (show all 12140)
# Title Authors PMID Year
1
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. 56 61 6
21953331 2012
2
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. 61 6 56
21129723 2010
3
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. 56 6
26524591 2015
4
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. 56 6
21881205 2011
5
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. 56 6
21852578 2011
6
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. 56 6
20534754 2010
7
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. 56 6
20159315 2010
8
Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome. 6 56
8495043 1993
9
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. 56
3618123 1987
10
A syndrome with nodular erythema, elongated and thickened fingers, and emaciation. 56
4026345 1985
11
[Sibling cases with lipodystrophic skin change, muscular atrophy, recurrent skin eruptions, and deformities and contractures of the joints. A possible new clinical entity]. 56
6499339 1984
12
Nakajo-Nishimura syndrome and related proteasome-associated autoinflammatory syndromes. 61
31576159 2019
13
Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management. 61
25521013 2015
14
TNF-alpha induces matrix metalloproteinase-9 expression in A549 cells: role of TNFR1/TRAF2/PKCalpha-dependent signaling pathways. 54
20333651 2010
15
Association between polymorphisms in interleukin-17A and interleukin-17F genes and risks of gastric cancer. 54
19904747 2010
16
Plasma apelin levels in subjects with nonalcoholic fatty liver disease. 54
20045153 2010
17
Preliminary report: circulating levels of the adipokine vaspin in gestational diabetes mellitus and preeclampsia. 54
20045145 2010
18
Clinicopathological and protein characterization of BRAF- and K-RAS-mutated colorectal cancer and implications for prognosis. 54
19908233 2010
19
Expressions of IL-18 and its binding protein in peripheral blood leukocytes and kidney tissues of lupus nephritis patients. 54
20140691 2010
20
The role of heme oxygenase-1 in mechanical stress- and lipopolysaccharide-induced osteogenic differentiation in human periodontal ligament cells. 54
20482362 2010
21
Parasite-specific antibody profile in the aqueous humor of rabbits with ocular toxocariasis. 54
19963075 2010
22
Extended anti-inflammatory action of a degradation-resistant mutant of cell-penetrating suppressor of cytokine signaling 3. 54
20400504 2010
23
Interleukin-13 regulates secretion of the tumor growth factor-{beta} superfamily cytokine activin A in allergic airway inflammation. 54
19635933 2010
24
Phospholipase A2 and its molecular mechanism after spinal cord injury. 54
20127525 2010
25
Residential traffic exposure, pulse pressure, and C-reactive protein: consistency and contrast among exposure characterization methods. 54
20123638 2010
26
Aldosterone and inflammation. 54
20422780 2010
27
Chemerin correlates with markers for fatty liver in morbidly obese patients and strongly decreases after weight loss induced by bariatric surgery. 54
20375212 2010
28
Macrophage inhibitory cytokine-1 regulates melanoma vascular development. 54
20431030 2010
29
Effect of bovine lactoferrin in Salmonella ser. Typhimurium infection in mice. 54
20306285 2010
30
Urinary liver-type fatty acid-binding protein predicts progression to nephropathy in type 1 diabetic patients. 54
20185732 2010
31
Stearoyl-coenzyme A desaturase 1 inhibition and the metabolic syndrome: considerations for future drug discovery. 54
20216310 2010
32
Delivery of basic fibroblast growth factor using heparin-conjugated fibrin for therapeutic angiogenesis. 54
20136400 2010
33
CX(3)CR1 and vascular adhesion protein-1-dependent recruitment of CD16(+) monocytes across human liver sinusoidal endothelium. 54
20512991 2010
34
Use of myeloperoxidase for risk stratification in acute heart failure. 54
20413430 2010
35
Global transcriptional response of macrophage-like THP-1 cells to Shiga toxin type 1. 54
20351145 2010
36
The microtubule regulator stathmin is an endogenous protein agonist for TLR3. 54
20483774 2010
37
Co-expression of insulin-like growth factor-1 and interleukin-4 in an in vitro inflammatory model. 54
20188584 2010
38
Microfluidic devices for characterizing the agonist of formyl peptide receptor in RBL-FPR cells. 54
20195765 2010
39
Thromboxane prostanoid receptor stimulation induces shedding of the transmembrane chemokine CX3CL1 yet enhances CX3CL1-dependent leukocyte adhesion. 54
20237149 2010
40
Relationship between the expression of IP-10 and IP-10 mRNA in peripheral blood and HBV DNA level in patients with cirrhosis. 54
20525556 2010
41
Biomolecular surface engineering of pancreatic islets with thrombomodulin. 54
20102751 2010
42
The L-, N-, and T-type triple calcium channel blocker benidipine acts as an antagonist of mineralocorticoid receptor, a member of nuclear receptor family. 54
20307534 2010
43
TRPV1 splice variants: structure and function. 54
20515731 2010
44
The effect of etanercept on suppression of the systemic inflammatory response in chronic hemodialysis patients. 54
20497755 2010
45
Metabolic and nonmetabolic regulatory functions of peroxisome proliferator-activated receptor beta. 54
20480546 2010
46
Association of biomarkers of systemic inflammation with organic components and source tracers in quasi-ultrafine particles. 54
20123637 2010
47
A functional variant in the 3'-UTR of angiopoietin-1 might reduce stroke risk by interfering with the binding efficiency of microRNA 211. 54
20378606 2010
48
Extracellular phospholipases in atherosclerosis. 54
20153800 2010
49
Cytokines as therapeutic targets in SLE. 54
20440285 2010
50
Retinoic acid-inducible gene-I (RIG-I) is induced by IFN-{gamma} in human mesangial cells in culture: possible involvement of RIG-I in the inflammation in lupus nephritis. 54
20167631 2010