PRAAS1
MCID: PRT133
MIFTS: 81

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

Characteristics:

Orphanet epidemiological data:

58
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;

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
Rare immunological 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 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 chronic orbital inflammation 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 Varenicline and Azathioprine 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 : 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 3127)
# Related Disease Score Top Affiliating Genes
1 chronic orbital inflammation 34.5 TNFRSF1B CRP
2 mastitis 33.8 IL6 IL1RN ICAM1 CXCL8
3 bone inflammation disease 33.8 TNFRSF1B TNF PTGS2 NLRP3 IL6 IL1RN
4 tenosynovitis 33.7 TNFRSF1B TNF IL6 CRP
5 orchitis 33.7 TNF IL6 IL10 CRP
6 panuveitis 33.6 TNFRSF1B TNF IL6 IL1RN IL10 CRP
7 blepharitis 33.6 TNF IL6 CXCL8
8 myocarditis 33.5 TNF IL6 IL1B IL10 IFNG ICAM1
9 post-thrombotic syndrome 33.4 IL6 ICAM1 CCL2
10 lymphadenitis 33.3 TNF IL1B IL10 IFNG ICAM1 CXCL8
11 spondyloarthropathy 1 33.3 TNFRSF1B TNF IL1RN CRP
12 posterior uveitis 33.3 TNF IL6 IFNG
13 transverse myelitis 33.3 TNF IL6 IL10 CXCL8
14 choroiditis 33.2 TNF IL10 IFNG
15 fatty liver disease 33.1 TNF IL6 IL1B CXCL8 CRP ADIPOQ
16 blau syndrome 33.1 TNF NLRP3 MEFV IL1RN IL1B IL10
17 non-alcoholic steatohepatitis 33.1 TNF IL6 ADIPOQ
18 gout 33.1 TNF NLRP3 MEFV IL6 IL1B CXCL8
19 chronic granulomatous disease 33.1 TNF IL1B IFNG ICAM1 CXCL8
20 cinca syndrome 33.0 NLRP3 MEFV IL6 IL1RN IL1B CRP
21 celiac disease 1 33.0 TNF IL6 IL10 IFNG CXCL8 CRP
22 intermediate uveitis 33.0 TNF IL6 IL10 IFNG
23 myelitis 33.0 TNF IL6 IL10 CXCL8
24 allergic asthma 33.0 RNASE3 IL10 IFNG ICAM1 CXCL8
25 encephalitis 32.9 TNF IL6 IL1B IL10 CXCL10 CCL2
26 acute pancreatitis 32.9 TNF IL6 IL1B IL10 CXCL8 CRP
27 polyarteritis nodosa 32.9 MEFV IL6 ICAM1 CRP
28 ulcerative colitis 32.9 TNF IL6 IL1RN IL1B IL10 IFNG
29 rosacea 32.9 TNF IL6 CXCL8 CRP
30 myositis 32.9 TNF IL6 IL1B IFNG CXCL8
31 cryptogenic organizing pneumonia 32.9 TNF CXCL8 CRP
32 irritable bowel syndrome 32.9 TNF IL6 IL10 CXCL8
33 laryngitis 32.9 TNF IL6 IL1B CRP
34 iridocyclitis 32.9 TNFRSF1B TNF IL6 CRP
35 meningoencephalitis 32.9 TNF IL6 IL10 CRP
36 tropical spastic paraparesis 32.9 IL6 IL10 IFNG
37 gastritis 32.9 TNF PTGS2 IL6 IL1RN IL1B IL10
38 churg-strauss syndrome 32.9 TNF RNASE3 IL10 CXCL8
39 orofacial granulomatosis 32.8 TNF IL10 IFNG
40 non-alcoholic fatty liver disease 32.8 TNF IL6 IL1B IL10 CXCL8 CRP
41 endometritis 32.8 TNF IL6 IL1B CXCL8
42 eales disease 32.8 TNF IL6 IL1B IL10 IFNG
43 familial mediterranean fever 32.8 TNF NLRP3 MEFV IL6 IL1RN IL1B
44 optic neuritis 32.8 TNF IL1B IL10 CXCL8 CXCL10
45 diverticulitis 32.8 TNF IL6 CRP
46 vaginitis 32.8 TNF IL6 IL1B IL10 CXCL8
47 ileitis 32.8 TNF IL6 IL10
48 kawasaki disease 32.8 TNF IL6 IL1B IL10 CRP CCL2
49 henoch-schoenlein purpura 32.8 RNASE3 MEFV ICAM1 CRP
50 colitis 32.8 TNF PTGS2 IL6 IL1B IL10 IFNG

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:

58 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
4 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
5 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
6 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
7 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
8 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
9 hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100774
10 abnormality of the leydig cells 58 31 hallmark (90%) Very frequent (99-80%) HP:0010789
11 elevated erythrocyte sedimentation rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0003565
12 erythema nodosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0012219
13 recurrent fever 31 hallmark (90%) HP:0001954
14 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
15 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
16 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
17 clubbing of toes 58 31 frequent (33%) Frequent (79-30%) HP:0100760
18 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
19 increased antibody level in blood 58 31 frequent (33%) Frequent (79-30%) HP:0010702
20 clubbing of fingers 58 31 frequent (33%) Frequent (79-30%) HP:0100759
21 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
22 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
23 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
24 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
25 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
26 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
27 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
28 thick lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000179
29 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
30 microcytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001935
31 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
32 prominent nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000448
33 right bundle branch block 58 31 occasional (7.5%) Occasional (29-5%) HP:0011712
34 seizures 31 occasional (7.5%) HP:0001250
35 short stature 31 occasional (7.5%) HP:0004322
36 lipodystrophy 58 31 Very frequent (99-80%) HP:0009125
37 failure to thrive 31 HP:0001508
38 osteopenia 31 HP:0000938
39 fever 58 Very frequent (99-80%)
40 hypertriglyceridemia 31 HP:0002155
41 anemia 31 HP:0001903
42 erythema 31 HP:0010783
43 elevated hepatic transaminase 31 HP:0002910
44 thrombocytopenia 31 HP:0001873
45 elbow flexion contracture 31 HP:0002987
46 abnormality of the face 58 Very frequent (99-80%)
47 conjunctivitis 31 HP:0000509
48 bone pain 31 HP:0002653
49 episodic fever 58 Very frequent (99-80%)
50 camptodactyly of finger 31 HP:0100490

Symptoms via clinical synopsis from OMIM:

56
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

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

Skin Nails Hair Skin:
panniculitis
erythematous nodular skin lesions
annular erythematous edematous plaques
lesions become purpuric
residual hyperpigmentation
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 9.84 CXCL8 ICAM1 IL10 IL1B NLRP3 PSMB8
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.84 CXCL8 ICAM1 IL10 IL1B NLRP3 PSMB8

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

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.28 ADIPOQ CXCL10 ICAM1 IFNG IL10 IL1B
2 cardiovascular system MP:0005385 10.27 ADIPOQ CRP CXCL10 ICAM1 IFNG IL10
3 immune system MP:0005387 10.27 ADIPOQ CCL2 CRP CXCL10 ICAM1 IFNG
4 cellular MP:0005384 10.26 ADIPOQ CXCL10 ICAM1 IFNG IL10 IL1RN
5 homeostasis/metabolism MP:0005376 10.25 ADIPOQ CRP CXCL10 ICAM1 IFNG IL10
6 integument MP:0010771 10.1 ADIPOQ ICAM1 IFNG IL10 IL1B IL1RN
7 digestive/alimentary MP:0005381 10.06 ICAM1 IFNG IL10 IL6 NLRP3 PTGS2
8 liver/biliary system MP:0005370 9.91 ADIPOQ IFNG IL10 IL6 MEFV NLRP3
9 muscle MP:0005369 9.76 ADIPOQ ICAM1 IFNG IL10 IL6 PTGS2
10 neoplasm MP:0002006 9.65 ADIPOQ ICAM1 IFNG IL10 IL1B IL6
11 skeleton MP:0005390 9.36 ADIPOQ IFNG IL10 IL1B IL1RN IL6

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 1432)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
2
Azathioprine Approved Phase 4 446-86-6 2265
3
Adefovir dipivoxil Approved, Investigational Phase 4 142340-99-6 60871
4
Eptifibatide Approved, Investigational Phase 4 188627-80-7 123610
5
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
6
Denosumab Approved Phase 4 615258-40-7
7
Fluorouracil Approved Phase 4 51-21-8 3385
8
Norethindrone Approved Phase 4 68-22-4 6230
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 5496 36294
13
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
14
Ezetimibe Approved Phase 4 163222-33-1 150311
15
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
16
Linagliptin Approved Phase 4 668270-12-0 10096344
17
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
18
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
19
Triclosan Approved, Investigational Phase 4 3380-34-5 5564
20
Cetirizine Approved Phase 4 83881-51-0 2678
21
Azithromycin Approved Phase 4 83905-01-5 55185 447043
22
Pravastatin Approved Phase 4 81093-37-0 54687
23
Saw palmetto Approved, Experimental, Investigational Phase 4
24 Brodalumab Approved, Investigational Phase 4 1174395-19-7
25
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
26
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
27
Insulin aspart Approved Phase 4 116094-23-6 16132418
28
Desflurane Approved Phase 4 57041-67-5 42113
29
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
30
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 4 62-90-8 229455
31
Nandrolone decanoate Approved, Illicit Phase 4 360-70-3 9677
32
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 637568 5271565
33
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
34
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
35
Leflunomide Approved, Investigational Phase 4 75706-12-6 3899
36
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
37
Omalizumab Approved, Investigational Phase 4 242138-07-4
38
Theophylline Approved Phase 4 58-55-9 2153
39
Ceftazidime Approved Phase 4 72558-82-8, 78439-06-2 5481173
40
Fenofibrate Approved Phase 4 49562-28-9 3339
41
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
42
Bevacizumab Approved, Investigational Phase 4 216974-75-3
43
Imiquimod Approved, Investigational Phase 4 99011-02-6 57469
44
Abciximab Approved Phase 4 143653-53-6
45
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
46
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
47
Dipyridamole Approved Phase 4 58-32-2 3108
48
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
49
Captopril Approved Phase 4 62571-86-2 44093
50
Ciclesonide Approved, Investigational Phase 4 126544-47-6, 141845-82-1 444033

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 Clinical Impact of Bacteriuria on Chronic Inflammation in Asymptomatic Hemodialysis Patients Unknown status NCT01570556 Phase 4
9 Efficiency Study of Aspirin to Prevent the Occurrence of Prostate Cancer Unknown status NCT02757365 Phase 4 aspirin;Levofloxacin
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 Clinical Study of Xingnaojing for the Treatment of Convulsive Diseases Unknown status NCT00796380 Phase 4 Xingnaojing
13 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
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 Inflammatory Markers and Cognitive Function in Major Depression:a Pilot Study Unknown status NCT01391221 Phase 4 Duloxetine
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 The Clinical Use of Probiotics in the Uremia Patients Under Chronic Peritoneal Dialysis Unknown status NCT01076426 Phase 4 Pro-biotics
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 The Role of Ketamine in Preventing Cognitive Dysfunctions in Postoperative Period of Cardiac Surgery Unknown status NCT02782429 Phase 4 Ketamine
25 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%
26 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
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 Role Of Saccharomyces Boulardii In Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4 Saccharomyces boulardii;Methyl cellulose powder (low viscosity)
33 Effects of Nutritional Supplementation in Malnourished Patients in Stable COPD:a Randomised Controlled Trial Unknown status NCT02197871 Phase 4
34 Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE Unknown status NCT03001401 Phase 4
35 The Effects of Omega-3 Fatty Acids on Chemotherapy-induced Neuropathy and Inflammation in Patients With Breast Cancer Unknown status NCT01049295 Phase 4
36 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
37 Maraviroc Abacavir STudy - Effect on Endothelial Recovery Unknown status NCT01389063 Phase 4 Maraviroc
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 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
40 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
41 Evaluation of Early Clinical and Immunological Efficacy of Specific Immunotherapy to Dust Mites in Children With Asthma Unknown status NCT00496561 Phase 4
42 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
43 Simvastatin in Patients With Septic Shock Unknown status NCT00450840 Phase 4 Simvastatin
44 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
45 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
46 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
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 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 A Double Blind, Placebo Controlled Study to Evaluate the Efficacy of Melatonin in Acute Ischemic Stroke. Unknown status NCT01863277 Phase 4 Melatonin;placebo

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 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, Kidney, Skin, Neutrophil

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
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. 61 56 6
21129723 2010
2
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. 56 6
26524591 2015
3
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. 56 6
21881205 2011
4
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. 56 6
21852578 2011
5
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. 56 6
20534754 2010
6
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. 56 6
20159315 2010
7
Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome. 56 6
8495043 1993
8
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
21953331 2012
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
Clinicopathological and protein characterization of BRAF- and K-RAS-mutated colorectal cancer and implications for prognosis. 54
19908233 2010
16
Expressions of IL-18 and its binding protein in peripheral blood leukocytes and kidney tissues of lupus nephritis patients. 54
20140691 2010
17
The role of heme oxygenase-1 in mechanical stress- and lipopolysaccharide-induced osteogenic differentiation in human periodontal ligament cells. 54
20482362 2010
18
Association between polymorphisms in interleukin-17A and interleukin-17F genes and risks of gastric cancer. 54
19904747 2010
19
Plasma apelin levels in subjects with nonalcoholic fatty liver disease. 54
20045153 2010
20
Preliminary report: circulating levels of the adipokine vaspin in gestational diabetes mellitus and preeclampsia. 54
20045145 2010
21
Macrophage inhibitory cytokine-1 regulates melanoma vascular development. 54
20431030 2010
22
Osteopontin in antineutrophil cytoplasmic autoantibody-associated vasculitis: relation to disease activity, organ manifestation and immunosuppressive therapy. 54
20424002 2010
23
Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy. 54
20467328 2010
24
Tumor necrosis-like weak inducer of apoptosis as a proinflammatory cytokine in human adipocyte cells: up-regulation in severe obesity is mediated by inflammation but not hypoxia. 54
20382683 2010
25
Glucocorticoid receptor gene, low-grade inflammation, and heart failure: the Heart and Soul study. 54
20371666 2010
26
Proteinase-activated receptor-2 up-regulation by Fcgamma-receptor activation in human neutrophils. 54
20154268 2010
27
AP-1--The Jun proteins: Oncogenes or tumor suppressors in disguise? 54
20060892 2010
28
Caspase-1 recognizes extended cleavage sites in its natural substrates. 54
20060974 2010
29
Differential proteomic characterization between normal peritoneal fluid and diabetic peritoneal dialysate. 54
20054029 2010
30
The microtubule regulator stathmin is an endogenous protein agonist for TLR3. 54
20483774 2010
31
Microfluidic devices for characterizing the agonist of formyl peptide receptor in RBL-FPR cells. 54
20195765 2010
32
Co-expression of insulin-like growth factor-1 and interleukin-4 in an in vitro inflammatory model. 54
20188584 2010
33
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
34
Extracellular phospholipases in atherosclerosis. 54
20153800 2010
35
Cytokines as therapeutic targets in SLE. 54
20440285 2010
36
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
37
RhoL controls invasion and Rap1 localization during immune cell transmigration in Drosophila. 54
20495554 2010
38
The Th17 immune response in renal inflammation. 54
20375986 2010
39
Transforming growth factor beta-1 and interleukin-17 gene transcription in peripheral blood mononuclear cells and the human response to infection. 54
20207161 2010
40
The endothelin axis influences enteric glia cell functions. 54
20512083 2010
41
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. 54
19960515 2010
42
Deleterious combined effects of salt-loading and endothelial cell restricted endothelin-1 overexpression on blood pressure and vascular function in mice. 54
20308920 2010
43
The effect of etanercept on suppression of the systemic inflammatory response in chronic hemodialysis patients. 54
20497755 2010
44
TRPV1 splice variants: structure and function. 54
20515731 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
Cellular and molecular basis for the regulation of inflammation by TGF-beta. 54
20410014 2010
48
Secretory leukocyte protease inhibitor and elafin/trappin-2: versatile mucosal antimicrobials and regulators of immunity. 54
20395631 2010
49
An in vitro model to evaluate the inflammatory response after gaseous formaldehyde exposure of lung epithelial cells. 54
20226236 2010
50
The lactoferrin receptor complex in Gram negative bacteria. 54
20155302 2010