Proteasome-Associated Autoinflammatory Syndrome 1 (PRAAS1)

Categories: Blood diseases, 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 74
Jmp Syndrome 57 12 53 59 74 15
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 57 25 74 13
Nakajo-Nishimura Syndrome 57 25 59 74
Nkjo 57 25 74
Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy 57 12
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 57 74
Chronic Atypical Neutrophilic Dermatosis-Lipodystrophy-Elevated Temperature Syndrome 53 59
Proteasome-Associated Autoinflammatory Syndrome 1 and Digenic Forms 57 29
Secondary Hypertrophic Osteoperiostosis with Pernio 59 74
Candle Syndrome 53 59
Nakajo Syndrome 25 74
Praas1 57 74
Candle 57 74
Aldd 57 25
Nns 59 74
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome; Candle 57
Joint Contractures-Muscular Atrophy-Microcytic Anemia-Panniculitis-Associated Lipodystrophy Syndrome 59
Joint Contractures - Muscle Atrophy - Microcytic Anemia - Panniculitis-Induced Lipodystrophy 53
Joint Contractures Muscular Atrophy Microcytic Anemia and Panniculitis-Induced Lipodystrophy 74
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature 53
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome; Aldd 57
Autoinflammation Lipodystrophy and Dermatosis Syndrome 37
Japanese Autoinflammatory Syndrome with Lipodystrophy 25
Autoinflammation-Lipodystrophy-Dermatosis Syndrome 59
Proteasome-Associated Autoinflammatory Syndrome 59
Amyotrophy-Fat Tissue Anomaly Syndrome 59
Nodular Erythema with Digital Changes 74
Nakajo-Nishimura Syndrome; Nkjo 57
Proteasome Disability Syndrome 59
Amyotrophy Fat Tissue Anomaly 53
Nakajo Nishimura Syndrome 53
Aldd Syndrome 59
Inflammation 44
Praas 59
Jasl 25


Orphanet epidemiological data:

nakajo-nishimura syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult;
jmp syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
candle syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;
proteasome disability syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal;


autosomal recessive

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


proteasome-associated autoinflammatory syndrome 1:
Inheritance autosomal recessive inheritance


External Ids:

Disease Ontology 12 DOID:0050553
KEGG 37 H01741
ICD10 via Orphanet 34 L98.8
UMLS via Orphanet 73 C1850568

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 cell fragments 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 myocarditis. An important gene associated with Proteasome-Associated Autoinflammatory Syndrome 1 is PSMB8 (Proteasome Subunit Beta 8), and among its related pathways/superpathways are Proteasome and Innate Immune System. The drugs Adefovir dipivoxil and Cetuximab 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 An autosomal recessive disease 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.

NIH Rare Diseases : 53 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 : 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)

KEGG : 37
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 : 74 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 : 75 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 3108)
# Related Disease Score Top Affiliating Genes
1 bone inflammation disease 34.5 TNF PTGS2 IL6 IL4 IL1B IL10
2 myocarditis 34.4 TNF IL6 ICAM1
3 lymphadenitis 33.9 TNF IL1B IL10 IFNG ICAM1 CXCL8
4 post-thrombotic syndrome 33.9 IL6 ICAM1 CCL2
5 posterior uveitis 33.8 TNF IL6 IFNG
6 juvenile rheumatoid arthritis 33.7 TNF IL6 IL1B CRP
7 transverse myelitis 33.7 TNF IL6 IL10 CXCL8
8 fatty liver disease 33.6 TNF IL6 IL1B CXCL8
9 vulvovaginitis 33.5 IL10 CXCL8 CCL11
10 familial mediterranean fever 33.5 TNF IL1B CRP
11 acute respiratory distress syndrome 33.5 TNF IL6 IL1B CXCL8
12 esophagitis, eosinophilic, 1 33.4 IL5 IL13 CCL11
13 intermediate uveitis 33.4 TNF IL6 IL10 IFNG
14 myelitis 33.4 TNF IL6 CCL11
15 ulcerative colitis 33.4 TNF MPO IL6 IL1B IL10 IFNG
16 temporal arteritis 33.4 TNF IL6 IFNG CRP CCL2
17 vaginitis 33.4 IL6 IL1B CXCL8
18 acute pancreatitis 33.4 MPO IL6 IL10 CXCL8 CRP
19 laryngitis 33.4 TNF IL6 IL1B
20 tropical spastic paraparesis 33.3 IL6 IL10 IFNG
21 polyarteritis nodosa 33.3 SELE MPO IL6 CRP
22 reactive arthritis 33.3 TNF IL10 IFNG CRP
23 behcet syndrome 33.3 TNF SELE IL6 IL1B IL10 IFNG
24 funisitis 33.3 IL6 IL1B IL10 CXCL8
25 ileitis 33.2 TNF MPO IL6
26 silicosis 33.2 TNF IL1B CXCL8 CCL2
27 glossitis 33.2 TNF IL6 IL1B
28 endometritis 33.2 TNF SELE IL6 IL1B
29 bronchiolitis obliterans 33.2 TNF IL6 IL10 IFNG CXCL8
30 chorioamnionitis 33.2 TNF IL6 IL1B CXCL8 CRP CCL2
31 kawasaki disease 33.2 TNF SELE IL6 IL10 CRP CCL2
32 psoriatic arthritis 33.2 TNF SELE IL6 IL1B IL13 CRP
33 rasmussen encephalitis 33.2 TNF IL6 IL4 IFNG
34 pharyngitis 33.2 PTGS2 IL1B CXCL8 CRP
35 relapsing polychondritis 33.2 IL6 IFNG CRP
36 endocarditis 33.2 VCAM1 TNF IL6 IL10 CXCL8 CRP
37 pericoronitis 33.2 VCAM1 IL1B CRP
38 orofacial granulomatosis 33.2 TNF IL4 IL10 IFNG
39 connective tissue disease 33.2 TNF IL6 IL10 IFNG
40 adult-onset still's disease 33.2 TNF IL6 IL1B CRP
41 takayasu arteritis 33.2 VCAM1 TNF SELE IL6 CRP
42 proctitis 33.2 TNF RNASE3 MPO CRP
43 diversion colitis 33.2 IL4 IL1B ICAM1
44 appendicitis 33.1 TNF MPO IL6 IL1B IL10 CXCL8
45 infective endocarditis 33.1 TNF IL6 CRP
46 pleural disease 33.1 TNF IL1B CRP
47 bronchitis 33.1 TNF RNASE3 MPO IL5 CXCL8 CRP
48 autoimmune myocarditis 33.1 TNF IL6 IFNG
49 macular retinal edema 33.1 IL6 ICAM1 CCL2
50 prostatitis 33.1 TNF IL6 IL1B IL10 CXCL8

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:

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
3 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
4 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
5 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
6 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
7 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
8 arthrogryposis multiplex congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0002804
9 hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100774
10 abnormality of the leydig cells 59 32 hallmark (90%) Very frequent (99-80%) HP:0010789
11 elevated erythrocyte sedimentation rate 59 32 hallmark (90%) Very frequent (99-80%) HP:0003565
12 erythema nodosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0012219
13 recurrent fever 32 hallmark (90%) HP:0001954
14 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
15 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
16 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
17 clubbing of toes 59 32 frequent (33%) Frequent (79-30%) HP:0100760
18 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
19 increased antibody level in blood 59 32 frequent (33%) Frequent (79-30%) HP:0010702
20 clubbing of fingers 59 32 frequent (33%) Frequent (79-30%) HP:0100759
21 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
22 abnormal pyramidal sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
23 macroglossia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000158
24 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
25 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
26 cardiomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001640
27 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
28 thick lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000179
29 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
30 microcytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001935
31 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
32 prominent nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000448
33 right bundle branch block 59 32 occasional (7.5%) Occasional (29-5%) HP:0011712
34 seizures 32 occasional (7.5%) HP:0001250
35 short stature 32 occasional (7.5%) HP:0004322
36 lipodystrophy 59 32 Very frequent (99-80%) HP:0009125
37 osteopenia 32 HP:0000938
38 failure to thrive 32 HP:0001508
39 fever 59 Very frequent (99-80%)
40 hypertriglyceridemia 32 HP:0002155
41 anemia 32 HP:0001903
42 erythema 32 HP:0010783
43 elevated hepatic transaminase 32 HP:0002910
44 thrombocytopenia 32 HP:0001873
45 elbow flexion contracture 32 HP:0002987
46 abnormality of the face 59 Very frequent (99-80%)
47 conjunctivitis 32 HP:0000509
48 bone pain 32 HP:0002653
49 episodic fever 59 Very frequent (99-80%)
50 camptodactyly of finger 32 HP:0100490

Symptoms via clinical synopsis from OMIM:

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)

Head And Neck Mouth:
thick lips

microcytic anemia

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

Skeletal Hands:
long fingers
finger swelling
clubbed fingers
finger contractures, severe
hand contractures, severe
Neurologic Central Nervous System:
basal ganglia calcification
seizures (uncommon)
mental retardation, mild (2 families)

Laboratory Abnormalities:
increased erythrocyte sedimentation rate
increased serum triglycerides
increased gamma-interferon
increased igg
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)

Growth Other:
failure to thrive
poor growth

Abdomen Liver:

Head And Neck Eyes:

antinuclear autoantibodies (in some)

Skin Nails Hair Skin:
erythematous nodular skin lesions
annular erythematous edematous plaques
lesions become purpuric
residual hyperpigmentation
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:


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

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 CXCL8 ICAM1 IL10 IL1B MPO PSMB8
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 CXCL8 ICAM1 IL10 IL1B MPO PSMB8
3 Reduced mammosphere formation GR00396-S 9.5 CCL2 CXCL8 IL5 PSMB4 PTGS2 SELE

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

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10.39 CCL11 CCL2 CRP ICAM1 IFNG IL10
2 hematopoietic system MP:0005397 10.37 CCL11 ICAM1 IFNG IL10 IL13 IL1B
3 homeostasis/metabolism MP:0005376 10.32 CRP ICAM1 IFNG IL10 IL13 IL1B
4 growth/size/body region MP:0005378 10.29 ICAM1 IFNG IL10 IL13 IL1B IL4
5 cardiovascular system MP:0005385 10.28 CRP ICAM1 IFNG IL10 IL1B IL6
6 digestive/alimentary MP:0005381 10.18 ICAM1 IFNG IL10 IL13 IL4 IL5
7 integument MP:0010771 10.13 ICAM1 IFNG IL10 IL13 IL1B IL4
8 liver/biliary system MP:0005370 10.01 IFNG IL10 IL4 IL5 IL6 PTGS2
9 muscle MP:0005369 9.97 ICAM1 IFNG IL10 IL13 IL6 MPO
10 neoplasm MP:0002006 9.97 ICAM1 IFNG IL10 IL1B IL5 IL6
11 reproductive system MP:0005389 9.81 IFNG IL10 IL13 IL4 IL5 IL6
12 no phenotypic analysis MP:0003012 9.8 IFNG IL10 IL13 IL4 PTGS2 TNF
13 respiratory system MP:0005388 9.65 CCL11 IFNG IL10 IL13 IL4 IL5
14 vision/eye MP:0005391 9.23 ICAM1 IFNG IL10 IL4 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 1503)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Adefovir dipivoxil Approved, Investigational Phase 4 142340-99-6 60871
Cetuximab Approved Phase 4 205923-56-4 56842117 2333
Eptifibatide Approved, Investigational Phase 4 188627-80-7 123610
Chromium Approved Phase 4 7440-47-3 27668
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
Cobalt Approved, Experimental Phase 4 7440-48-4 104729
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
Ibuprofen Approved Phase 4 15687-27-1 3672
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
Menthol Approved Phase 4 2216-51-5 16666
Atorvastatin Approved Phase 4 134523-00-5 60823
Triclosan Approved, Investigational Phase 4 3380-34-5 5564
Cetirizine Approved Phase 4 83881-51-0 2678
Pravastatin Approved Phase 4 81093-37-0 54687
Saw palmetto Approved, Experimental, Investigational Phase 4
Insulin Aspart Approved Phase 4 116094-23-6 16132418
21 Brodalumab Approved, Investigational Phase 4 1174395-19-7
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
Desflurane Approved Phase 4 57041-67-5 42113
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 5271565 637568
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
Aminosalicylic Acid Approved Phase 4 65-49-6 4649
Dipivefrin Approved Phase 4 52365-63-6 3105
Omalizumab Approved, Investigational Phase 4 242138-07-4
Theophylline Approved Phase 4 58-55-9 2153
Esomeprazole Approved, Investigational Phase 4 119141-88-7, 161796-78-7, 161973-10-0 9568614 4594
Atenolol Approved Phase 4 29122-68-7 2249
Fenofibrate Approved Phase 4 49562-28-9 3339
Imiquimod Approved, Investigational Phase 4 99011-02-6 57469
Metronidazole Approved Phase 4 443-48-1 4173
Abciximab Approved Phase 4 143653-53-6
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
Dipyridamole Approved Phase 4 58-32-2 3108
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
Captopril Approved Phase 4 62571-86-2 44093
Ciclesonide Approved, Investigational Phase 4 126544-47-6, 141845-82-1 444033
Hydroxychloroquine Approved Phase 4 118-42-3 3652
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
Racepinephrine Approved Phase 4 329-65-7 838
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
Titanium dioxide Approved Phase 4 13463-67-7

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 The Effect of Ferric Citrate on Inflammation and Lipid Levels in Patients on Hemodialysis Unknown status NCT02661295 Phase 4 Ferric Citrate
6 The Effect of Perioperative Atenolol on Post-Operative Cytokines Unknown status NCT00202358 Phase 4 atenolol;placebo
7 Efficiency Study of Aspirin to Prevent the Occurrence of Prostate Cancer Unknown status NCT02757365 Phase 4 aspirin;Levofloxacin
8 Clinical Impact of Bacteriuria on Chronic Inflammation in Asymptomatic Hemodialysis Patients Unknown status NCT01570556 Phase 4
9 Imaging of Inflammation in the Postischemic Myocardium: Effect of Anti-inflammatory Treatment With Colchicine Unknown status NCT02281305 Phase 4 Colchicine
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 Clinical Study of Xingnaojing for the Treatment of Convulsive Diseases Unknown status NCT00796380 Phase 4 Xingnaojing
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 Vascular Benefits of Adding CarvedilolCR to Type2 Diabetic Patients on ACEI:Effects on Oxidative Stress and Inflammation. Unknown status NCT00430040 Phase 4 carvedilol;lisinopril
14 Fat, Inflammation and Insulin Resistance (FIRE-Study) Unknown status NCT01054989 Phase 4
15 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
16 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
17 Inflammatory Markers and Cognitive Function in Major Depression:a Pilot Study Unknown status NCT01391221 Phase 4 Duloxetine
18 A Post Marketing Surveillance to Evaluate the Safety and Efficacy of Lotemax Ophthalmic Suspension 0.5% Unknown status NCT01437982 Phase 4 Loteprednol Etabonate;Prednisolone Acetate 1% Oph Susp
19 Effect of Atorvastatin on Inflammatory Atherosclerotic Plaques Assessed by FDG-PET Imaging Unknown status NCT00920101 Phase 4 Atorvastatin
20 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
21 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
22 Telmisartan vs Ramipril for Reduction of Inflammation and Recruitment of Endothelial Progenitor Cells After Acute Coronary Syndrome Unknown status NCT00702936 Phase 4 TELMISARTAN;RAMIPRIL
23 The Clinical Use of Probiotics in the Uremia Patients Under Chronic Peritoneal Dialysis Unknown status NCT01076426 Phase 4 Pro-biotics
24 The Role of Ketamine in Preventing Cognitive Dysfunctions in Postoperative Period of Cardiac Surgery Unknown status NCT02782429 Phase 4 Ketamine
25 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
26 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%
27 Dexmedetomidine Hydrochloride in the Prevention of Organ Failure Following Unknown status NCT02691598 Phase 4 Infusion
28 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
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 Adalimumab to Mitigate Cardiovascular Risk in RA Patients With Well-Controlled Joint Disease Unknown status NCT01893996 Phase 4 Adalimumab;Placebo
31 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
32 Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE Unknown status NCT03001401 Phase 4
33 Effects of Nutritional Supplementation in Malnourished Patients in Stable COPD:a Randomised Controlled Trial Unknown status NCT02197871 Phase 4
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 Role Of Saccharomyces Boulardii In Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4 Saccharomyces boulardii;Methyl cellulose powder (low viscosity)
36 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
37 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
38 Maraviroc Abacavir STudy - Effect on Endothelial Recovery Unknown status NCT01389063 Phase 4 Maraviroc
39 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
40 A Prospective Randomized Control Trial to Compare the Aquamantys System With Standard Electrocautery in Reducing Blood Loss in Primary Total Knee Arthroplasty Unknown status NCT01736644 Phase 4
41 The Effect of Ticagrelor on 15-Epi-Lipoxin A4 and Inflammation Unknown status NCT02626169 Phase 4 Clopidogrel;Ticagrelor
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 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
44 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
45 Simvastatin in Patients With Septic Shock Unknown status NCT00450840 Phase 4 Simvastatin
46 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
47 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
48 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
49 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
50 Evaluation of Early Clinical and Immunological Efficacy of Specific Immunotherapy to Dust Mites in Children With Asthma Unknown status NCT00496561 Phase 4

Search NIH Clinical Center for Proteasome-Associated Autoinflammatory Syndrome 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :

Acetylsalicylic acid
Cortisone acetate
Hydrocortisone succinate
Linoleic acid

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 and Digenic Forms 29

Anatomical Context for Proteasome-Associated Autoinflammatory Syndrome 1

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

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

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
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. 38 8 71
21953331 2012
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. 38 8 71
21129723 2010
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. 8 71
26524591 2015
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. 8 71
21881205 2011
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. 8 71
21852578 2011
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. 8 71
20534754 2010
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. 8 71
20159315 2010
Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome. 8 71
8495043 1993
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. 8
3618123 1987
A syndrome with nodular erythema, elongated and thickened fingers, and emaciation. 8
4026345 1985
[Sibling cases with lipodystrophic skin change, muscular atrophy, recurrent skin eruptions, and deformities and contractures of the joints. A possible new clinical entity]. 8
6499339 1984
Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management. 38
25521013 2015
TNF-alpha induces matrix metalloproteinase-9 expression in A549 cells: role of TNFR1/TRAF2/PKCalpha-dependent signaling pathways. 9
20333651 2010
Association between polymorphisms in interleukin-17A and interleukin-17F genes and risks of gastric cancer. 9
19904747 2010
Plasma apelin levels in subjects with nonalcoholic fatty liver disease. 9
20045153 2010
Preliminary report: circulating levels of the adipokine vaspin in gestational diabetes mellitus and preeclampsia. 9
20045145 2010
Clinicopathological and protein characterization of BRAF- and K-RAS-mutated colorectal cancer and implications for prognosis. 9
19908233 2010
The role of heme oxygenase-1 in mechanical stress- and lipopolysaccharide-induced osteogenic differentiation in human periodontal ligament cells. 9
20482362 2010
Expressions of IL-18 and its binding protein in peripheral blood leukocytes and kidney tissues of lupus nephritis patients. 9
20140691 2010
Interleukin-13 regulates secretion of the tumor growth factor-{beta} superfamily cytokine activin A in allergic airway inflammation. 9
19635933 2010
Extended anti-inflammatory action of a degradation-resistant mutant of cell-penetrating suppressor of cytokine signaling 3. 9
20400504 2010
Phospholipase A2 and its molecular mechanism after spinal cord injury. 9
20127525 2010
Aldosterone and inflammation. 9
20422780 2010
Stearoyl-coenzyme A desaturase 1 inhibition and the metabolic syndrome: considerations for future drug discovery. 9
20216310 2010
Urinary liver-type fatty acid-binding protein predicts progression to nephropathy in type 1 diabetic patients. 9
20185732 2010
Chemerin correlates with markers for fatty liver in morbidly obese patients and strongly decreases after weight loss induced by bariatric surgery. 9
20375212 2010
Neutrophil gelatinase-associated lipocalin (NGAL): a new piece of the anemia puzzle? 9
20512104 2010
Effect of bovine lactoferrin in Salmonella ser. Typhimurium infection in mice. 9
20306285 2010
CX(3)CR1 and vascular adhesion protein-1-dependent recruitment of CD16(+) monocytes across human liver sinusoidal endothelium. 9
20512991 2010
Delivery of basic fibroblast growth factor using heparin-conjugated fibrin for therapeutic angiogenesis. 9
20136400 2010
Use of myeloperoxidase for risk stratification in acute heart failure. 9
20413430 2010
Global transcriptional response of macrophage-like THP-1 cells to Shiga toxin type 1. 9
20351145 2010
Pharmacotherapy of hepatic encephalopathy in cirrhosis. 9
20384539 2010
Increased cannabinoid receptor 1-immunoreactive nerve fibers in overactive and painful bladder disorders and their correlation with symptoms. 9
20346490 2010
Acid sphingomyelinase inhibitors normalize pulmonary ceramide and inflammation in cystic fibrosis. 9
19635928 2010
AMPK agonists ameliorate sodium and fluid transport and inflammation in cystic fibrosis airway epithelial cells. 9
19617399 2010
A functional variant in the 3'-UTR of angiopoietin-1 might reduce stroke risk by interfering with the binding efficiency of microRNA 211. 9
20378606 2010
Extracellular phospholipases in atherosclerosis. 9
20153800 2010
Cytokines as therapeutic targets in SLE. 9
20440285 2010
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. 9
20167631 2010
RhoL controls invasion and Rap1 localization during immune cell transmigration in Drosophila. 9
20495554 2010
The Th17 immune response in renal inflammation. 9
20375986 2010
Metabolic and nonmetabolic regulatory functions of peroxisome proliferator-activated receptor beta. 9
20480546 2010
TRPV1 splice variants: structure and function. 9
20515731 2010
The effect of etanercept on suppression of the systemic inflammatory response in chronic hemodialysis patients. 9
20497755 2010
Promotion of direct angiogenesis in vitro and in vivo by Puerariae flos extract via activation of MEK/ERK-, PI3K/Akt/eNOS-, and Src/FAK-dependent pathways. 9
19960515 2010
The endothelin axis influences enteric glia cell functions. 9
20512083 2010
Deleterious combined effects of salt-loading and endothelial cell restricted endothelin-1 overexpression on blood pressure and vascular function in mice. 9
20308920 2010
Transforming growth factor beta-1 and interleukin-17 gene transcription in peripheral blood mononuclear cells and the human response to infection. 9
20207161 2010
Association of biomarkers of systemic inflammation with organic components and source tracers in quasi-ultrafine particles. 9
20123637 2010