PRAAS1
MCID: PRT133
MIFTS: 65

Proteasome-Associated Autoinflammatory Syndrome 1 (PRAAS1)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Eye 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 75
Jmp Syndrome 57 12 53 59 75 15
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 57 25 75 13
Nakajo-Nishimura Syndrome 57 25 59 75
Nkjo 57 25 75
Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy 57 12
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 57 75
Chronic Atypical Neutrophilic Dermatosis-Lipodystrophy-Elevated Temperature Syndrome 53 59
Secondary Hypertrophic Osteoperiostosis with Pernio 59 75
Candle Syndrome 53 59
Nakajo Syndrome 25 75
Praas1 57 75
Candle 57 75
Aldd 57 25
Nns 59 75
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 75
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature 53
Proteasome-Associated Autoinflammatory Syndrome 1 and Digenic Forms 57
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 75
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

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
proteasome-associated autoinflammatory syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Proteasome-Associated Autoinflammatory Syndrome 1

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)

MalaCards based summary : Proteasome-Associated Autoinflammatory Syndrome 1, also known as jmp syndrome, is related to nakajo syndrome and bone inflammation disease. 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. Affiliated tissues include neutrophil, skin and bone, and related phenotypes are hyperhidrosis and muscle weakness

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.

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).

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.

UniProtKB/Swiss-Prot : 75 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 : 76 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 2075)
# Related Disease Score Top Affiliating Genes
1 nakajo syndrome 34.2 PSMB4 PSMB8
2 bone inflammation disease 33.7 CCL2 CRP CXCL8 IFNG IL10 IL1B
3 dermatitis 33.2 CCL11 IFNG IL4 IL5
4 myocarditis 33.2 ICAM1 IL6 TNF
5 lymphadenitis 32.8 CXCL8 ICAM1 IFNG IL10 IL1B TNF
6 post-thrombotic syndrome 32.7 CCL2 ICAM1 IL6
7 vasculitis 32.4 CCL2 CRP ICAM1 MPO SELE TNF
8 fatty liver disease 32.4 CXCL8 IL1B IL6 TNF
9 familial mediterranean fever 32.4 CRP IL1B TNF
10 ulcerative colitis 32.4 CRP CXCL8 IFNG IL10 IL1B IL6
11 behcet syndrome 32.4 CRP CXCL8 IFNG IL10 IL1B IL6
12 temporal arteritis 32.3 CCL2 CRP IFNG IL6 TNF
13 juvenile rheumatoid arthritis 32.3 TNF IL6 IL1B CRP
14 kawasaki disease 32.3 CCL2 CRP IL10 IL6 SELE TNF
15 myelitis 32.2 CCL11 IL6 TNF
16 polyarteritis nodosa 32.2 CRP IL6 MPO SELE
17 meningitis 32.2 CCL2 CRP CXCL8 IFNG IL10 IL1B
18 bronchitis 32.2 CCL11 CRP CXCL8 IL5 MPO RNASE3
19 vaginitis 32.2 CXCL8 IL1B IL6
20 laryngitis 32.2 IL1B IL6 TNF
21 reactive arthritis 32.2 CRP IFNG IL10 TNF
22 vulvovaginitis 32.1 IL10 CXCL8 CCL11
23 glomerulonephritis 32.1 CCL2 ICAM1 IL1B MPO VCAM1
24 endocarditis 32.1 CRP CXCL8 IL10 IL6 TNF VCAM1
25 esophagitis 32.1 CCL11 CXCL8 IL1B IL5 IL6 PTGS2
26 appendicitis 32.1 CRP CXCL8 IL10 IL1B IL6 MPO
27 allergic asthma 32.1 CCL11 IFNG IL10 IL4 IL5 RNASE3
28 takayasu arteritis 32.1 CRP IL6 SELE TNF VCAM1
29 rasmussen encephalitis 32.1 IFNG IL4 IL6 TNF
30 arthritis 32.1 CCL2 CXCL8 IFNG IL10 IL1B IL6
31 acute pancreatitis 32.1 CRP CXCL8 IL10 IL6 MPO
32 silicosis 32.1 CCL2 CXCL8 IL1B TNF
33 relapsing polychondritis 32.1 CRP IFNG IL6
34 transverse myelitis 32.1 CXCL8 IL10 IL6 TNF
35 tonsillitis 32.1 CXCL8 IFNG IL1B IL4 IL6 TNF
36 chorioamnionitis 32.1 CCL2 CRP CXCL8 IL1B IL6 TNF
37 uveitis 32.1 CCL2 ICAM1 IFNG IL10 IL4 TNF
38 psoriatic arthritis 32.1 CRP IL1B IL6 SELE TNF
39 funisitis 32.0 CXCL8 IL10 IL1B IL6
40 eales disease 32.0 IFNG IL10 IL1B IL4 IL6 TNF
41 sinusitis 32.0 CXCL8 IL5 RNASE3
42 adult-onset still's disease 32.0 CRP IL1B IL6 TNF
43 ileitis 32.0 IL6 MPO TNF
44 colitis 32.0 CXCL8 IFNG IL10 IL1B IL4 IL6
45 endometritis 32.0 IL1B IL6 SELE TNF
46 diversion colitis 32.0 ICAM1 IL1B IL4
47 bronchiolitis obliterans 32.0 CXCL8 IFNG IL10 IL6 TNF
48 joint disorders 32.0 IL1B IL6 TNF
49 proctitis 32.0 CRP MPO RNASE3 TNF
50 pericarditis 32.0 CRP IFNG IL1B IL6 TNF

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

Symptoms via clinical synopsis from OMIM:

57
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:
macroglossia
thick lips

Hematology:
thrombocytopenia
microcytic anemia

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

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

Growth Other:
failure to thrive
poor growth

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

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 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
2 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
3 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
4 macroglossia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000158
5 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
6 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
7 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
8 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
9 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
10 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
11 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
12 cardiomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001640
13 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
14 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
15 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
16 thick lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000179
17 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
18 microcytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001935
19 lipodystrophy 59 32 Very frequent (99-80%) HP:0009125
20 arthrogryposis multiplex congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0002804
21 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
22 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
23 hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100774
24 clubbing of toes 59 32 frequent (33%) Frequent (79-30%) HP:0100760
25 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
26 prominent nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000448
27 abnormality of the leydig cells 59 32 hallmark (90%) Very frequent (99-80%) HP:0010789
28 increased antibody level in blood 59 32 frequent (33%) Frequent (79-30%) HP:0010702
29 right bundle branch block 59 32 occasional (7.5%) Occasional (29-5%) HP:0011712
30 elevated erythrocyte sedimentation rate 59 32 hallmark (90%) Very frequent (99-80%) HP:0003565
31 erythema nodosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0012219
32 episodic fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001954
33 clubbing of fingers 59 32 frequent (33%) Frequent (79-30%) HP:0100759
34 osteopenia 32 HP:0000938
35 seizures 32 occasional (7.5%) HP:0001250
36 failure to thrive 32 HP:0001508
37 abnormal pyramidal signs 59 Occasional (29-5%)
38 short stature 32 occasional (7.5%) HP:0004322
39 fever 59 Very frequent (99-80%)
40 hypertriglyceridemia 32 HP:0002155
41 anemia 32 HP:0001903
42 thrombocytopenia 32 HP:0001873
43 elbow flexion contracture 32 HP:0002987
44 abnormality of the face 59 Very frequent (99-80%)
45 erythema 32 HP:0010783
46 conjunctivitis 32 HP:0000509
47 bone pain 32 HP:0002653
48 camptodactyly of finger 32 HP:0100490
49 flexion contracture of toe 32 HP:0005830
50 long fingers 32 HP:0100807

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 9.77 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 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.31 CCL11 ICAM1 IFNG IL10 IL1B IL4
2 immune system MP:0005387 10.3 CCL11 CCL2 CRP ICAM1 IFNG IL10
3 cardiovascular system MP:0005385 10.27 CRP ICAM1 IFNG IL10 IL1B IL6
4 homeostasis/metabolism MP:0005376 10.25 CRP ICAM1 IFNG IL10 IL1B IL4
5 growth/size/body region MP:0005378 10.23 ICAM1 IFNG IL10 IL1B IL4 IL5
6 digestive/alimentary MP:0005381 10.08 ICAM1 IFNG IL10 IL4 IL5 IL6
7 integument MP:0010771 9.97 ICAM1 IFNG IL10 IL1B IL4 IL6
8 liver/biliary system MP:0005370 9.86 IFNG IL10 IL4 IL5 IL6 PTGS2
9 neoplasm MP:0002006 9.85 ICAM1 IFNG IL10 IL1B IL5 IL6
10 respiratory system MP:0005388 9.61 CCL11 IFNG IL10 IL4 IL5 IL6
11 vision/eye MP:0005391 9.28 ICAM1 IFNG IL10 IL4 IL6 PTGS2

Drugs & Therapeutics for Proteasome-Associated Autoinflammatory Syndrome 1

Search Clinical Trials , NIH Clinical Center for Proteasome-Associated Autoinflammatory Syndrome 1

Cochrane evidence based reviews: inflammation

Genetic Tests for Proteasome-Associated Autoinflammatory Syndrome 1

Anatomical Context for Proteasome-Associated Autoinflammatory Syndrome 1

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

41
Neutrophil, Skin, Bone, Heart, Kidney, Eye, Skeletal Muscle

Publications for Proteasome-Associated Autoinflammatory Syndrome 1

Articles related to Proteasome-Associated Autoinflammatory Syndrome 1:

# Title Authors Year
1
A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations. ( 23942189 )
2013
2
Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. ( 22441638 )
2012
3
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. ( 21852578 )
2011

Variations for Proteasome-Associated Autoinflammatory Syndrome 1

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

75
# Symbol AA change Variation ID SNP ID
1 PSMB8 p.Thr75Met VAR_065291 rs748082671
2 PSMB8 p.Gly201Val VAR_066449 rs387906680
3 PSMB8 p.Lys105Gln VAR_075257

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

6 (show top 50) (show all 71)
# Gene Variation Type Significance SNP ID Assembly Location
1 PSMB8 PSMB8, THR75MET single nucleotide variant Pathogenic
2 PSMB8 NM_004159.4(PSMB8): c.590G> T (p.Gly197Val) single nucleotide variant Pathogenic rs387906680 GRCh37 Chromosome 6, 32809448: 32809448
3 PSMB8 NM_004159.4(PSMB8): c.590G> T (p.Gly197Val) single nucleotide variant Pathogenic rs387906680 GRCh38 Chromosome 6, 32841671: 32841671
4 PSMB8 PSMB8, GLY201VAL single nucleotide variant Pathogenic
5 PSMB8 PSMB8, CYS135TER (rs146254972) single nucleotide variant Pathogenic
6 PSMB8 NM_148919.3(PSMB8): c.*178G> A single nucleotide variant Uncertain significance rs886061309 GRCh38 Chromosome 6, 32840781: 32840781
7 PSMB8 NM_148919.3(PSMB8): c.*178G> A single nucleotide variant Uncertain significance rs886061309 GRCh37 Chromosome 6, 32808558: 32808558
8 PSMB8 NM_148919.3(PSMB8): c.*6G> C single nucleotide variant Uncertain significance rs371747700 GRCh37 Chromosome 6, 32808730: 32808730
9 PSMB8 NM_148919.3(PSMB8): c.*6G> C single nucleotide variant Uncertain significance rs371747700 GRCh38 Chromosome 6, 32840953: 32840953
10 PSMB8 NM_148919.3(PSMB8): c.407+6C> T single nucleotide variant Benign rs9276810 GRCh37 Chromosome 6, 32810443: 32810443
11 PSMB8 NM_148919.3(PSMB8): c.407+6C> T single nucleotide variant Benign rs9276810 GRCh38 Chromosome 6, 32842666: 32842666
12 PSMB8 NM_148919.3(PSMB8): c.-35C> T single nucleotide variant Uncertain significance rs886061311 GRCh37 Chromosome 6, 32811808: 32811808
13 PSMB8 NM_148919.3(PSMB8): c.-35C> T single nucleotide variant Uncertain significance rs886061311 GRCh38 Chromosome 6, 32844031: 32844031
14 PSMB8 NM_148919.3(PSMB8): c.701A> G (p.Tyr234Cys) single nucleotide variant Uncertain significance rs55853041 GRCh38 Chromosome 6, 32841572: 32841572
15 PSMB8 NM_148919.3(PSMB8): c.804G> A (p.Leu268=) single nucleotide variant Conflicting interpretations of pathogenicity rs371969268 GRCh37 Chromosome 6, 32808763: 32808763
16 PSMB8 NM_148919.3(PSMB8): c.804G> A (p.Leu268=) single nucleotide variant Conflicting interpretations of pathogenicity rs371969268 GRCh38 Chromosome 6, 32840986: 32840986
17 PSMB8 NM_148919.3(PSMB8): c.701A> G (p.Tyr234Cys) single nucleotide variant Uncertain significance rs55853041 GRCh37 Chromosome 6, 32809349: 32809349
18 PSMB8 NM_148919.3(PSMB8): c.145C> A (p.Gln49Lys) single nucleotide variant Benign/Likely benign rs2071543 GRCh37 Chromosome 6, 32811629: 32811629
19 PSMB8 NM_148919.3(PSMB8): c.145C> A (p.Gln49Lys) single nucleotide variant Benign/Likely benign rs2071543 GRCh38 Chromosome 6, 32843852: 32843852
20 PSMB8 NM_148919.3(PSMB8): c.129T> C (p.Ala43=) single nucleotide variant Likely benign rs2071542 GRCh37 Chromosome 6, 32811645: 32811645
21 PSMB8 NM_148919.3(PSMB8): c.129T> C (p.Ala43=) single nucleotide variant Likely benign rs2071542 GRCh38 Chromosome 6, 32843868: 32843868
22 PSMB8 NM_148919.3(PSMB8): c.22G> A (p.Gly8Arg) single nucleotide variant Benign/Likely benign rs114772012 GRCh37 Chromosome 6, 32811752: 32811752
23 PSMB8 NM_148919.3(PSMB8): c.22G> A (p.Gly8Arg) single nucleotide variant Benign/Likely benign rs114772012 GRCh38 Chromosome 6, 32843975: 32843975
24 PSMB8 NM_148919.3(PSMB8): c.686G> A (p.Arg229His) single nucleotide variant Uncertain significance rs547653681 GRCh37 Chromosome 6, 32809364: 32809364
25 PSMB8 NM_148919.3(PSMB8): c.686G> A (p.Arg229His) single nucleotide variant Uncertain significance rs547653681 GRCh38 Chromosome 6, 32841587: 32841587
26 PSMB8 NM_148919.3(PSMB8): c.192C> T (p.Asn64=) single nucleotide variant Benign/Likely benign rs79482999 GRCh37 Chromosome 6, 32810822: 32810822
27 PSMB8 NM_148919.3(PSMB8): c.192C> T (p.Asn64=) single nucleotide variant Benign/Likely benign rs79482999 GRCh38 Chromosome 6, 32843045: 32843045
28 PSMB8 NM_148919.3(PSMB8): c.167C> A (p.Ser56Tyr) single nucleotide variant Uncertain significance rs886061310 GRCh37 Chromosome 6, 32810847: 32810847
29 PSMB8 NM_148919.3(PSMB8): c.167C> A (p.Ser56Tyr) single nucleotide variant Uncertain significance rs886061310 GRCh38 Chromosome 6, 32843070: 32843070
30 PSMB8 NM_148919.3(PSMB8): c.*24G> T single nucleotide variant Uncertain significance rs115441230 GRCh37 Chromosome 6, 32808712: 32808712
31 PSMB8 NM_148919.3(PSMB8): c.*24G> T single nucleotide variant Uncertain significance rs115441230 GRCh38 Chromosome 6, 32840935: 32840935
32 PSMB8 NM_148919.3(PSMB8): c.*8G> A single nucleotide variant Uncertain significance rs376750959 GRCh38 Chromosome 6, 32840951: 32840951
33 PSMB8 NM_148919.3(PSMB8): c.*8G> A single nucleotide variant Uncertain significance rs376750959 GRCh37 Chromosome 6, 32808728: 32808728
34 PSMB8 NM_148919.3(PSMB8): c.483G> A (p.Gln161=) single nucleotide variant Conflicting interpretations of pathogenicity rs41270492 GRCh37 Chromosome 6, 32809965: 32809965
35 PSMB8 NM_148919.3(PSMB8): c.483G> A (p.Gln161=) single nucleotide variant Conflicting interpretations of pathogenicity rs41270492 GRCh38 Chromosome 6, 32842188: 32842188
36 PSMB8 NM_148919.3(PSMB8): c.815G> A (p.Arg272Gln) single nucleotide variant Uncertain significance rs368551668 GRCh37 Chromosome 6, 32808752: 32808752
37 PSMB8 NM_148919.3(PSMB8): c.815G> A (p.Arg272Gln) single nucleotide variant Uncertain significance rs368551668 GRCh38 Chromosome 6, 32840975: 32840975
38 PSMB8 NM_148919.3(PSMB8): c.220A> T (p.Thr74Ser) single nucleotide variant Benign rs17220206 GRCh37 Chromosome 6, 32810794: 32810794
39 PSMB8 NM_148919.3(PSMB8): c.220A> T (p.Thr74Ser) single nucleotide variant Benign rs17220206 GRCh38 Chromosome 6, 32843017: 32843017
40 PSMB8 NM_148919.3(PSMB8): c.501C> T (p.Leu167=) single nucleotide variant Benign rs11540143 GRCh37 Chromosome 6, 32809947: 32809947
41 PSMB8 NM_148919.3(PSMB8): c.501C> T (p.Leu167=) single nucleotide variant Benign rs11540143 GRCh38 Chromosome 6, 32842170: 32842170
42 PSMB8 NM_148919.3(PSMB8): c.222C> A (p.Thr74=) single nucleotide variant Benign rs116638337 GRCh37 Chromosome 6, 32810792: 32810792
43 PSMB8 NM_148919.3(PSMB8): c.222C> A (p.Thr74=) single nucleotide variant Benign rs116638337 GRCh38 Chromosome 6, 32843015: 32843015
44 PSMB8 NM_148919.3(PSMB8): c.732C> T (p.Gly244=) single nucleotide variant Benign rs78909544 GRCh38 Chromosome 6, 32841541: 32841541
45 PSMB8 NM_148919.3(PSMB8): c.732C> T (p.Gly244=) single nucleotide variant Benign rs78909544 GRCh37 Chromosome 6, 32809318: 32809318
46 PSMB8 NM_148919.3(PSMB8): c.386G> T (p.Arg129Leu) single nucleotide variant Uncertain significance rs369078226 GRCh37 Chromosome 6, 32810470: 32810470
47 PSMB8 NM_148919.3(PSMB8): c.386G> T (p.Arg129Leu) single nucleotide variant Uncertain significance rs369078226 GRCh38 Chromosome 6, 32842693: 32842693
48 PSMB8 NM_148919.3(PSMB8): c.800T> G (p.Leu267Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 32840990: 32840990
49 PSMB8 NM_148919.3(PSMB8): c.800T> G (p.Leu267Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 32808767: 32808767
50 PSMB8 NM_148919.3(PSMB8): c.715G> A (p.Asp239Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 32809335: 32809335

Expression for Proteasome-Associated Autoinflammatory Syndrome 1

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

Pathways for Proteasome-Associated Autoinflammatory Syndrome 1

Pathways related to Proteasome-Associated Autoinflammatory Syndrome 1 according to KEGG:

37
# Name Kegg Source Accession
1 Proteasome hsa03050

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

(show top 50) (show all 86)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.15 CCL11 CCL2 CRP CXCL8 ICAM1 IFNG
2
Show member pathways
13.93 CCL11 CCL2 CXCL8 IL10 IL1B IL4
3
Show member pathways
13.8 CCL11 CCL2 CXCL8 IFNG IL10 IL1B
4
Show member pathways
13.7 CCL11 CCL2 CXCL8 ICAM1 IFNG IL10
5
Show member pathways
13.53 CCL11 CCL2 CXCL8 IL10 IL1B IL4
6
Show member pathways
13.5 CCL11 CCL2 CXCL8 ICAM1 IFNG IL10
7
Show member pathways
13.43 CCL11 CCL2 CXCL8 IL10 IL1B IL4
8
Show member pathways
13.17 CCL2 CXCL8 ICAM1 IL1B IL6 PTGS2
9
Show member pathways
13.13 CCL2 CXCL8 IFNG IL10 IL1B IL6
10
Show member pathways
13.07 CCL11 CXCL8 ICAM1 IFNG IL10 IL1B
11
Show member pathways
12.96 CCL2 CXCL8 ICAM1 IFNG IL1B IL4
12 12.94 CXCL8 IFNG IL4 IL5 IL6 PTGS2
13
Show member pathways
12.82 CXCL8 IFNG IL1B IL6 TNF
14 12.78 CCL2 IFNG IL10 IL1B IL4 MPO
15
Show member pathways
12.77 IFNG IL10 IL1B IL4 IL5 IL6
16
Show member pathways
12.76 CCL2 IFNG IL10 IL1B IL6 MPO
17
Show member pathways
12.62 IFNG IL10 IL1B IL4 IL5 IL6
18
Show member pathways
12.53 CCL2 CRP ICAM1 IFNG IL1B IL4
19
Show member pathways
12.52 CCL2 ICAM1 PTGS2 SELE VCAM1
20
Show member pathways
12.51 IFNG IL10 IL4 IL5 IL6
21
Show member pathways
12.51 CCL11 CCL2 CXCL8 IFNG IL1B IL4
22
Show member pathways
12.48 CXCL8 IFNG IL10 IL1B IL4 IL5
23 12.47 ICAM1 IL6 TNF VCAM1
24
Show member pathways
12.47 CXCL8 IFNG IL1B IL6 PTGS2 TNF
25
Show member pathways
12.44 IFNG IL10 IL1B IL4 PTGS2 TNF
26
Show member pathways
12.4 CCL11 CXCL8 IFNG IL1B IL4 IL6
27 12.38 IFNG IL10 IL1B IL6 TNF
28
Show member pathways
12.37 CXCL8 IL1B IL6 PTGS2 TNF
29
Show member pathways
12.36 IL10 IL1B IL6 PTGS2 TNF
30
Show member pathways
12.33 CCL11 CCL2 CXCL8 ICAM1 IL1B VCAM1
31 12.33 CXCL8 IL10 IL1B IL6 TNF
32 12.32 CCL2 ICAM1 IFNG IL1B SELE TNF
33
Show member pathways
12.29 CCL11 CCL2 CXCL8 ICAM1 IFNG IL10
34 12.28 IFNG IL6 PTGS2 TNF
35 12.23 IFNG IL10 IL4 IL5 IL6 MPO
36
Show member pathways
12.22 IFNG IL10 IL1B IL6 TNF
37
Show member pathways
12.2 IFNG IL1B IL4 IL6 TNF
38 12.2 CCL2 ICAM1 IL1B IL6 PTGS2 SELE
39 12.17 CCL2 CXCL8 ICAM1 IFNG IL1B IL4
40 12.17 CCL11 CCL2 CXCL8 ICAM1 IL10 IL1B
41 12.13 CCL2 CXCL8 ICAM1 IL1B IL6 SELE
42 12.12 CXCL8 IFNG IL10 IL1B IL6 TNF
43 12.11 CXCL8 ICAM1 IL1B PTGS2 TNF VCAM1
44 12.11 CCL2 CXCL8 ICAM1 IFNG IL1B IL6
45 12.08 IL1B IL4 IL5 IL6 TNF
46 12.07 CXCL8 IFNG IL1B IL6
47 12.06 CXCL8 ICAM1 IFNG IL4 IL5 IL6
48 12.03 IFNG IL10 IL1B IL4 IL5 TNF
49
Show member pathways
12 CXCL8 IFNG IL4 IL5 PTGS2 TNF
50 11.97 CXCL8 IFNG IL1B IL6

GO Terms for Proteasome-Associated Autoinflammatory Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.77 CCL11 CCL2 CRP CXCL8 IFNG IL10
2 extracellular space GO:0005615 9.53 CCL11 CCL2 CRP CXCL8 ICAM1 IFNG
3 proteasome core complex, beta-subunit complex GO:0019774 9.16 PSMB4 PSMB8

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

(show top 50) (show all 71)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.99 IL10 MPO PTGS2 VCAM1
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.98 ICAM1 IL1B IL6 TNF
3 immune response GO:0006955 9.96 CCL11 CCL2 CXCL8 IFNG IL10 IL1B
4 cellular response to tumor necrosis factor GO:0071356 9.93 CCL11 CCL2 CXCL8 ICAM1 VCAM1
5 defense response to Gram-positive bacterium GO:0050830 9.92 CRP IL6 RNASE3 TNF
6 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.91 IL6 PTGS2 TNF
7 B cell differentiation GO:0030183 9.91 IL10 IL4 VCAM1
8 neutrophil chemotaxis GO:0030593 9.91 CCL11 CCL2 CXCL8 IL1B
9 cellular response to interleukin-1 GO:0071347 9.91 CCL11 CCL2 CXCL8 ICAM1
10 positive regulation of DNA-binding transcription factor activity GO:0051091 9.91 IL10 IL1B IL5 IL6 TNF
11 response to lipopolysaccharide GO:0032496 9.91 ICAM1 IL10 IL1B MPO PTGS2 SELE
12 chemokine-mediated signaling pathway GO:0070098 9.9 CCL11 CCL2 CXCL8
13 cellular response to organic cyclic compound GO:0071407 9.9 CCL2 IL1B TNF
14 interferon-gamma-mediated signaling pathway GO:0060333 9.9 ICAM1 IFNG VCAM1
15 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.9 IFNG IL4 IL6
16 regulation of inflammatory response GO:0050727 9.9 PTGS2 SELE TNF
17 regulation of insulin secretion GO:0050796 9.89 IFNG IL1B TNF
18 positive regulation of interleukin-6 production GO:0032755 9.88 IL1B IL6 TNF
19 positive regulation of smooth muscle cell proliferation GO:0048661 9.87 IL6 PTGS2 TNF
20 cellular response to lipopolysaccharide GO:0071222 9.87 CCL2 CXCL8 ICAM1 IL10 IL1B IL6
21 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.86 ICAM1 SELE VCAM1
22 positive regulation of T cell proliferation GO:0042102 9.86 IL1B IL4 IL6 VCAM1
23 monocyte chemotaxis GO:0002548 9.85 CCL11 CCL2 IL6
24 humoral immune response GO:0006959 9.85 CCL2 IFNG IL6 TNF
25 response to glucocorticoid GO:0051384 9.85 IL10 IL1B IL6 PTGS2 TNF
26 regulation of signaling receptor activity GO:0010469 9.85 CCL11 CCL2 CXCL8 IFNG IL10 IL1B
27 protein kinase B signaling GO:0043491 9.83 CCL2 IL1B TNF
28 negative regulation of endothelial cell apoptotic process GO:2000352 9.83 ICAM1 IL10 IL4
29 lipopolysaccharide-mediated signaling pathway GO:0031663 9.83 CCL2 IL1B TNF
30 leukocyte cell-cell adhesion GO:0007159 9.82 ICAM1 SELE VCAM1
31 negative regulation of neurogenesis GO:0050768 9.8 IL1B IL6 TNF
32 positive regulation of nitric oxide biosynthetic process GO:0045429 9.8 ICAM1 IFNG IL1B PTGS2 TNF
33 leukocyte tethering or rolling GO:0050901 9.77 SELE TNF VCAM1
34 positive regulation of glial cell proliferation GO:0060252 9.77 IL1B IL6 TNF
35 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.76 IFNG IL1B TNF
36 negative regulation of growth of symbiont in host GO:0044130 9.75 IL10 MPO TNF
37 ovulation GO:0030728 9.74 IL1B PTGS2
38 PERK-mediated unfolded protein response GO:0036499 9.74 CCL2 CXCL8
39 positive regulation of immunoglobulin secretion GO:0051024 9.74 IL5 IL6
40 positive regulation of podosome assembly GO:0071803 9.74 IL5 TNF
41 response to molecule of bacterial origin GO:0002237 9.74 CXCL8 IL10
42 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.74 IL10 IL1B TNF
43 negative regulation of blood vessel diameter GO:0097756 9.73 CRP PTGS2
44 chronic inflammatory response GO:0002544 9.72 CCL11 VCAM1
45 endothelial cell apoptotic process GO:0072577 9.71 IL10 TNF
46 positive regulation of chemokine biosynthetic process GO:0045080 9.71 IL1B TNF
47 positive regulation of MHC class II biosynthetic process GO:0045348 9.7 IL10 IL4
48 regulation of establishment of endothelial barrier GO:1903140 9.7 IL1B TNF
49 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 IL10 TNF
50 negative regulation of lipid storage GO:0010888 9.7 CRP IL6 TNF

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

# Name GO ID Score Top Affiliating Genes
1 chemokine activity GO:0008009 9.33 CCL11 CCL2 CXCL8
2 cytokine activity GO:0005125 9.32 CCL11 CCL2 CXCL8 IFNG IL10 IL1B
3 growth factor activity GO:0008083 9.26 IL10 IL4 IL5 IL6
4 protein binding GO:0005515 10.19 CCL11 CCL2 CRP CXCL8 ICAM1 IFNG

Sources for Proteasome-Associated Autoinflammatory Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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