PRAAS1
MCID: PRT133
MIFTS: 80

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 57 73 29 6
Jmp Syndrome 57 12 20 73 15
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 57 43 73 13
Nakajo-Nishimura Syndrome 57 43 73
Nkjo 57 43 73
Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy 57 12
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 57 73
Proteasome-Associated Autoinflammatory Syndrome 1 and Digenic Forms 57 29
Nakajo Syndrome 43 73
Praas1 57 73
Candle 57 73
Aldd 57 43
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome; Candle 57
Joint Contractures - Muscle Atrophy - Microcytic Anemia - Panniculitis-Induced Lipodystrophy 20
Joint Contractures Muscular Atrophy Microcytic Anemia and Panniculitis-Induced Lipodystrophy 73
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature 20
Chronic Atypical Neutrophilic Dermatosis-Lipodystrophy-Elevated Temperature Syndrome 20
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome; Aldd 57
Autoinflammation Lipodystrophy and Dermatosis Syndrome 36
Japanese Autoinflammatory Syndrome with Lipodystrophy 43
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 57
Proteasome Disability Syndrome 58
Amyotrophy Fat Tissue Anomaly 20
Nakajo Nishimura Syndrome 20
Candle Syndrome 20
Aldd Syndrome 58
Inflammation 44
Praas 58
Jasl 43
Nns 73

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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
Onset and clinical course infantile onset childhood onset death in adolescence


Classifications:

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


Summaries for Proteasome-Associated Autoinflammatory Syndrome 1

MedlinePlus Genetics : 43 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 mastitis and panuveitis. 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 Valsartan and Atenolol have been mentioned in the context of this disorder. Affiliated tissues include endothelial, liver and skin, and related phenotypes are failure to thrive and macroglossia

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.

GARD : 20 Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE syndrome) occurs when the immune system attacks the body by mistake. Symptoms usually develop within the first few months of life and may include recurrent fevers and purple colored spots on the skin particularly around the eyes. Loss of body fat, bone, and joint pain also usually occur. Since so few people have been reported with CANDLE syndrome, it is difficult to know how it affects people in the long term. CANDLE syndrome occurs when the PSMB8 gene is not working correctly. Other genes associated with CANDLE syndrome include PSMB4, PSMA3, and POMP. It is usually inherited in an autosomal recessive pattern; however, when associated with variants in the POMP gene, may be inherited in an autosomal dominant pattern. There is no specific treatment for this condition; however, steroids may help reduce the frequency of symptoms.

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 05-Mar-2021)

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
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 3279)
# Related Disease Score Top Affiliating Genes
1 mastitis 32.5 SELE IL6 ICAM1 CXCL8
2 panuveitis 32.5 TNF IL6 IL10 CRP
3 fatty liver disease 32.5 TNF IL6 IL1B CXCL8 ADIPOQ
4 granulomatosis with polyangiitis 32.5 TNF SELE IL5 CRP
5 myocarditis 32.5 TNF IL6 IL1B IL10 IFNG ICAM1
6 spondyloarthropathy 1 32.5 TNF IL6 CRP
7 tenosynovitis 32.4 TNF IL6 IL1B CRP
8 transverse myelitis 32.4 TNF IL6 IL10 CXCL8
9 ulcerative colitis 32.4 TNF IL6 IL1B IL10 IFNG ICAM1
10 blau syndrome 32.4 TNF NLRP3 MEFV IL1B IL10
11 orchitis 32.3 TNF IL6 IL1B IL10 CRP
12 post-thrombotic syndrome 32.3 IL6 ICAM1 CCL2 ADIPOQ
13 gout 32.3 TNF NLRP3 MEFV IL6 IL1B CXCL8
14 neuromyelitis optica 32.3 IL6 IL5 IL1B CXCL10
15 cinca syndrome 32.3 NLRP3 MEFV IL1B
16 cholangitis, primary sclerosing 32.3 TNF IL6 IL10 CRP
17 chronic granulomatous disease 32.3 TNF IL1B IFNG ICAM1 CXCL8
18 arachnoiditis 32.2 TNF IL1B CRP
19 non-alcoholic fatty liver disease 32.2 TNF IL6 IL1B IL10 CXCL8 CRP
20 non-alcoholic steatohepatitis 32.2 TNF IL6 CXCL8 CCL2 ADIPOQ
21 acute pancreatitis 32.2 TNF IL6 IL1B IL10 CXCL8 CRP
22 allergic asthma 32.2 RNASE3 IL5 IL10 IFNG ICAM1 CXCL8
23 encephalitis 32.2 TNF IL6 IL1B IL10 CXCL10 CCL2
24 gastritis 32.2 TNF PTGS2 IL6 IL1B IL10 CXCL8
25 juvenile rheumatoid arthritis 32.2 TNF IL6 IL1B IL10 IFNG CXCL8
26 familial mediterranean fever 32.2 TNF NLRP3 MEFV IL6 IL1B IL10
27 kawasaki disease 32.2 TNF SELE IL6 IL1B IL10 CRP
28 lymphadenitis 32.2 TNF IL1B IL10 IFNG ICAM1 CXCL8
29 colitis 32.2 TNF PTGS2 IL6 IL1B IL10 IFNG
30 pancreatitis 32.1 TNF IL6 IL1B IL10 CRP
31 hidradenitis suppurativa 32.1 TNF NLRP3 MEFV IL1B IFNG
32 juvenile arthritis 32.1 IL6 IL10 CXCL8 CRP
33 allergic rhinitis 32.1 SELE RNASE3 IL5 IL10 IFNG ICAM1
34 posterior uveitis 32.1 TNF IL6 IL5 IFNG
35 myelitis 32.1 TNF IL6 IL10 CXCL8
36 rosacea 32.1 TNF IL6 CXCL8 CRP
37 chorioamnionitis 32.1 TNF IL6 IL1B IL10 CXCL8 CRP
38 petrositis 32.1 IFNG CRP
39 tropical spastic paraparesis 32.1 IL6 IL10 IFNG
40 salpingitis 32.1 TNF IL6 CRP
41 temporal arteritis 32.1 TNF IL6 IL1B IFNG CRP CCL2
42 kidney disease 32.1 TNF MEFV IL6 CRP CCL2 ADIPOQ
43 rhinitis 32.1 TNF RNASE3 IL6 IL5 IL10 IFNG
44 synovitis 32.1 TNF SELE IL6 IL1B ICAM1 CXCL8
45 celiac disease 1 32.1 TNF IL6 IL5 IL1B IL10 IFNG
46 iridocyclitis 32.1 TNF IL6 IL1B IL10 CRP
47 choroiditis 32.1 TNF IL10 IFNG
48 polyarteritis nodosa 32.1 SELE MEFV IL6 ICAM1 CRP
49 irritable bowel syndrome 32.0 TNF IL6 IL1B IL10 CXCL8 CRP
50 endocarditis 32.0 TNF IL6 IL10 IFNG CXCL8 CRP

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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
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 (Updated 05-Mar-2021)

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 Reduced mammosphere formation GR00396-S 9.5 CCL2 CXCL8 IL5 PSMA3 PSMB4 PTGS2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.47 CXCL8 IL10 IL1B NLRP3 PSMB8 TNF
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.47 CXCL8 ICAM1 IL10 IL1B NLRP3 PSMB8
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.47 ICAM1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.25 ADIPOQ CXCL10 ICAM1 IFNG IL10 IL1B
2 immune system MP:0005387 10.22 ADIPOQ CCL2 CRP CXCL10 ICAM1 IFNG
3 homeostasis/metabolism MP:0005376 10.21 ADIPOQ CRP CXCL10 ICAM1 IFNG IL10
4 cardiovascular system MP:0005385 10.2 ADIPOQ CRP CXCL10 ICAM1 IFNG IL10
5 digestive/alimentary MP:0005381 10.03 ICAM1 IFNG IL10 IL5 IL6 NLRP3
6 integument MP:0010771 10 ADIPOQ ICAM1 IFNG IL10 IL1B IL6
7 liver/biliary system MP:0005370 9.85 ADIPOQ IFNG IL10 IL5 IL6 MEFV
8 neoplasm MP:0002006 9.65 ADIPOQ ICAM1 IFNG IL10 IL1B IL5
9 respiratory system MP:0005388 9.23 ADIPOQ IFNG IL10 IL5 IL6 PTGS2

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 1020)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
2
Atenolol Approved Phase 4 29122-68-7 2249
3
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
4
Fusidic Acid Approved, Investigational Phase 4 6990-06-3 3000226
5
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
6
Permethrin Approved, Investigational Phase 4 52645-53-1 40326
7
glycyrrhizin Approved, Experimental Phase 4 1405-86-3 3495
8
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
9
Linagliptin Approved Phase 4 668270-12-0 10096344
10 Taurolidine Approved, Investigational Phase 4 19388-87-5
11
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
12
Sulfasalazine Approved Phase 4 599-79-1 5353980 5359476
13
Cetirizine Approved Phase 4 83881-51-0 2678
14
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
15
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
16
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
17
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
18
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
19
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
20
Nifedipine Approved Phase 4 21829-25-4 4485
21
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
22
Budesonide Approved Phase 4 51333-22-3 63006 5281004
23 Orange Approved Phase 4
24
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
25
Amlodipine Approved Phase 4 88150-42-9 2162
26
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
27
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
28
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
29
Abciximab Approved Phase 4 143653-53-6
30
Liraglutide Approved Phase 4 204656-20-2 44147092
31
Ramipril Approved Phase 4 87333-19-5 5362129
32
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
33
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
34
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
35
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
36
Captopril Approved Phase 4 62571-86-2 44093
37 sodium fluoride Approved Phase 4 7681-49-4
38
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
39
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
40
Bromfenac Approved Phase 4 91714-94-2 60726
41
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
42
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
43
Rilpivirine Approved Phase 4 500287-72-9 6451164
44
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
45
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
46
Titanium dioxide Approved Phase 4 13463-67-7
47
Triclosan Approved, Investigational Phase 4 3380-34-5 5564
48
Ezetimibe Approved Phase 4 163222-33-1 150311
49 Grape Approved Phase 4
50
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754

Interventional clinical trials:

(show top 50) (show all 3564)
# Name Status NCT ID Phase Drugs
1 Effectiveness of Low Level Laser at the Auriculotherapy Points, in Reducing Postoperative Pain in Third Molar Surgery Unknown status NCT02657174 Phase 4
2 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
3 The Effects of Omega-3 Fatty Acids on Chemotherapy-induced Neuropathy and Inflammation in Patients With Breast Cancer Unknown status NCT01049295 Phase 4
4 Volume Kinetics for 20% Albumin in Conscious and Anesthetized Humans With and Without Inflammation Unknown status NCT02556580 Phase 4 Albumin 20%
5 Effects of High Dose Simvastatin vs. Atorvastatin on Baseline Lipoprotein Profiles, Apo-A-1 and C Reactive Protein Unknown status NCT00736463 Phase 4 Simvastatin;Atorvastatin 80 mg
6 Effects of GLP-1 Receptor Agonist Treatment on Pulmonary Function and Quality of Life in Obese Patients With Chronic Obstructive Pulmonary Disease. Unknown status NCT03466021 Phase 4 Liraglutide;Placebo
7 The Effect of Perioperative Atenolol on Post-Operative Cytokines Unknown status NCT00202358 Phase 4 atenolol;placebo
8 Effects of Atorvastatin Treatment on Left Ventricular Diastolic Function in Peritoneal Dialysis Patients (ALEVENT) Unknown status NCT01503671 Phase 4 Atorvastatin
9 Comparison of Anti-inflammatory Effects of Rivaroxaban Versus Dabigatran in Patients With Non-valvular Atrial Fibrillation (RIVAL-AF Study) -Multicenter Randomized Study- Unknown status NCT02331602 Phase 4 Rivaroxaban;Dabigatran
10 The Problem of Insulin Resistance in Patients After Carotid Revascularization Unknown status NCT03419767 Phase 4 Melatonin
11 Effects of N-Acetyl-Cysteine on Oxidative Stress Biomarkers in Bipolar Patients With and Without Tobacco Use Disorder Unknown status NCT02252341 Phase 4
12 Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE Unknown status NCT03001401 Phase 4
13 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
14 Rapid P2Y12 Receptor Inhibition Attenuates Inflammatory Cell Infiltration in Thrombus Aspirated From the Infarct-related Artery in STEMI Patients: A Prospective Randomized Trial of Ticagrelor Versus Clopidogrel Unknown status NCT02639143 Phase 4 ticagrelor;Clopidogrel
15 Mechanisms of Endotoxin-Tolerance of Human Monocytes After CABG-Sugery - Effects of Hemofiltration and Mannitol Treatment Unknown status NCT00426192 Phase 4 i.v. mannitol
16 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
17 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
18 Clinical Impact of Bacteriuria on Chronic Inflammation in Asymptomatic Hemodialysis Patients Unknown status NCT01570556 Phase 4
19 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
20 Effects of Exercise Training on Systemic Inflammation an Muscle Repair According to the Chronic Obstructive Pulmonary Disease Phenotype Unknown status NCT01431625 Phase 4
21 The Effect of Ferric Citrate on Inflammation and Lipid Levels in Patients on Hemodialysis Unknown status NCT02661295 Phase 4 Ferric Citrate
22 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
23 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
24 Telmisartan vs Ramipril for Reduction of Inflammation and Recruitment of Endothelial Progenitor Cells After Acute Coronary Syndrome Unknown status NCT00702936 Phase 4 TELMISARTAN;RAMIPRIL
25 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
26 Vascular Benefits of Adding CarvedilolCR to Type2 Diabetic Patients on ACEI:Effects on Oxidative Stress and Inflammation. Unknown status NCT00430040 Phase 4 carvedilol;lisinopril
27 Mitigating Cardiac Inflammation and Oxidative Stress in Atrial Myocardium Via Short-term Lovaza Treatment Prior to Surgery Unknown status NCT01046604 Phase 4 Lovaza group
28 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
29 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
30 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
31 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
32 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
33 Efficacy of Olmesartan on Cerebral Glucose Metabolism, Vascular Inflammation and Adipose Tissue Unknown status NCT02996916 Phase 4 Olmesartan;Amlodipine
34 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
35 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
36 NSAIDs vs. Coxibs in the Presence of Aspirin: Effects on Platelet Function, Endothelial Function, and Biomarkers of Inflammation in Subjects With Rheumatoid Arthritis and Increased Cardiovascular Risk or Cardiovascular Disease Unknown status NCT03699293 Phase 4 celecoxib 200mg capsule;naproxen sodium 550mg tablet;Aspirin 81mg tablet
37 Effects of SGLT-2 Inhibition With Dapagliflozin on Myocardial Fibrosis and Inflammation as Assessed by Cardiac MRI With T1- and T2-mapping in Patients With Type-2 Diabetes Unknown status NCT03782259 Phase 4 dapagliflozin
38 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
39 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
40 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
41 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
42 Imaging of Inflammation in the Postischemic Myocardium: Effect of Anti-inflammatory Treatment With Colchicine Unknown status NCT02281305 Phase 4 Colchicine
43 The Effects of Acetylcysteine on Alleviating Damage of Oxidative Stress in Hemodialysis Patients Unknown status NCT00247507 Phase 4 acetylcysteine
44 The Role of Ketamine in Preventing Cognitive Dysfunctions in Postoperative Period of Cardiac Surgery Unknown status NCT02782429 Phase 4 Ketamine
45 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
46 Effect of Atorvastatin on Inflammatory Atherosclerotic Plaques Assessed by FDG-PET Imaging Unknown status NCT00920101 Phase 4 Atorvastatin
47 Ocular Micro-vascular Research Base on Functional Slip Lamp Biomicroscopy Unknown status NCT03747614 Phase 4 Fluorometholone
48 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
49 Pilot Study to Evaluate Effects of Atorvastatin on Monocyte Activation in HAART-treated HIV Infected Individuals Completed NCT01263938 Phase 4 Atorvastatin
50 Mechanisms Underlying Metabolic Syndrome in Obesity Completed NCT00579813 Phase 4 Pioglitazone

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, Liver, Skin, Lung, Neutrophil, Eye, Bone

Publications for Proteasome-Associated Autoinflammatory Syndrome 1

Articles related to Proteasome-Associated Autoinflammatory Syndrome 1:

(show top 50) (show all 12141)
# 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. 61 6 57
21953331 2012
2
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. 57 6 61
21129723 2010
3
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. 6 57
26524591 2015
4
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. 57 6
21881205 2011
5
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. 6 57
21852578 2011
6
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. 6 57
20534754 2010
7
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. 6 57
20159315 2010
8
Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome. 6 57
8495043 1993
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
Nakajo-Nishimura syndrome and related proteasome-associated autoinflammatory syndromes. 61
31576159 2019
14
Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management. 61
25521013 2015
15
TNF-alpha induces matrix metalloproteinase-9 expression in A549 cells: role of TNFR1/TRAF2/PKCalpha-dependent signaling pathways. 54
20333651 2010
16
Clinicopathological and protein characterization of BRAF- and K-RAS-mutated colorectal cancer and implications for prognosis. 54
19908233 2010
17
Expressions of IL-18 and its binding protein in peripheral blood leukocytes and kidney tissues of lupus nephritis patients. 54
20140691 2010
18
The role of heme oxygenase-1 in mechanical stress- and lipopolysaccharide-induced osteogenic differentiation in human periodontal ligament cells. 54
20482362 2010
19
Association between polymorphisms in interleukin-17A and interleukin-17F genes and risks of gastric cancer. 54
19904747 2010
20
Preliminary report: circulating levels of the adipokine vaspin in gestational diabetes mellitus and preeclampsia. 54
20045145 2010
21
Plasma apelin levels in subjects with nonalcoholic fatty liver disease. 54
20045153 2010
22
RhoL controls invasion and Rap1 localization during immune cell transmigration in Drosophila. 54
20495554 2010
23
The Th17 immune response in renal inflammation. 54
20375986 2010
24
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
25
Cytokines as therapeutic targets in SLE. 54
20440285 2010
26
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
27
Extracellular phospholipases in atherosclerosis. 54
20153800 2010
28
Chemerin correlates with markers for fatty liver in morbidly obese patients and strongly decreases after weight loss induced by bariatric surgery. 54
20375212 2010
29
Arginase I suppresses IL-12/IL-23p40-driven intestinal inflammation during acute schistosomiasis. 54
20483789 2010
30
IL-15 triggers an antiapoptotic pathway in human intraepithelial lymphocytes that is a potential new target in celiac disease-associated inflammation and lymphomagenesis. 54
20440074 2010
31
AMPK agonists ameliorate sodium and fluid transport and inflammation in cystic fibrosis airway epithelial cells. 54
19617399 2010
32
Acid sphingomyelinase inhibitors normalize pulmonary ceramide and inflammation in cystic fibrosis. 54
19635928 2010
33
Non-invasive markers for early diagnosis and determination of the severity of necrotizing enterocolitis. 54
20485148 2010
34
Proteinase-activated receptor-2 up-regulation by Fcgamma-receptor activation in human neutrophils. 54
20154268 2010
35
Differential proteomic characterization between normal peritoneal fluid and diabetic peritoneal dialysate. 54
20054029 2010
36
Caspase-1 recognizes extended cleavage sites in its natural substrates. 54
20060974 2010
37
The microtubule regulator stathmin is an endogenous protein agonist for TLR3. 54
20483774 2010
38
Co-expression of insulin-like growth factor-1 and interleukin-4 in an in vitro inflammatory model. 54
20188584 2010
39
Microfluidic devices for characterizing the agonist of formyl peptide receptor in RBL-FPR cells. 54
20195765 2010
40
Thromboxane prostanoid receptor stimulation induces shedding of the transmembrane chemokine CX3CL1 yet enhances CX3CL1-dependent leukocyte adhesion. 54
20237149 2010
41
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
42
Biomolecular surface engineering of pancreatic islets with thrombomodulin. 54
20102751 2010
43
Protein kinase CK2-mediated phosphorylation of HDAC2 regulates co-repressor formation, deacetylase activity and acetylation of HDAC2 by cigarette smoke and aldehydes. 54
20388487 2010
44
Striking inflammation from both sides: manganese(II) pentaazamacrocyclic SOD mimics act also as nitric oxide dismutases: a single-cell study. 54
20446321 2010
45
Use of myeloperoxidase for risk stratification in acute heart failure. 54
20413430 2010
46
Modulation of inflammatory markers by miR-146a during replicative senescence in trabecular meshwork cells. 54
20053980 2010
47
Simvastatin attenuates acrolein-induced mucin production in rats: involvement of the Ras/extracellular signal-regulated kinase pathway. 54
20359552 2010
48
Secretory leukocyte protease inhibitor and elafin/trappin-2: versatile mucosal antimicrobials and regulators of immunity. 54
20395631 2010
49
Interleukin-19 protects mice from innate-mediated colonic inflammation. 54
19834971 2010
50
Glucocorticoid receptor gene, low-grade inflammation, and heart failure: the Heart and Soul study. 54
20371666 2010