MCID: ATN007
MIFTS: 70

Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Muscle diseases, Bone diseases, Skin diseases, Blood diseases

Aliases & Classifications for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

MalaCards integrated aliases for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

Name: Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 53 24 71 13
Jmp Syndrome 53 12 49 55 71 14
Nakajo-Nishimura Syndrome 53 24 55 71
Nakajo Syndrome 24 71 69
Nkjo 53 24 71
Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy 53 12
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 53 71
Chronic Atypical Neutrophilic Dermatosis-Lipodystrophy-Elevated Temperature Syndrome 49 55
Secondary Hypertrophic Osteoperiostosis with Pernio 55 71
Candle Syndrome 49 55
Inflammation 41 69
Candle 53 71
Aldd 53 24
Nns 55 71
Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy; Jmp Syndrome 53
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome; Candle 53
Joint Contractures-Muscular Atrophy-Microcytic Anemia-Panniculitis-Associated Lipodystrophy Syndrome 55
Joint Contractures - Muscle Atrophy - Microcytic Anemia - Panniculitis-Induced Lipodystrophy 49
Joint Contractures Muscular Atrophy Microcytic Anemia and Panniculitis-Induced Lipodystrophy 71
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature 49
Autoinflammation Lipodystrophy and Dermatosis Syndrome 36
Japanese Autoinflammatory Syndrome with Lipodystrophy 24
Autoinflammation-Lipodystrophy-Dermatosis Syndrome 55
Proteasome-Associated Autoinflammatory Syndrome 55
Amyotrophy-Fat Tissue Anomaly Syndrome 55
Nodular Erythema with Digital Changes 71
Nakajo-Nishimura Syndrome; Nkjo 53
Proteasome Disability Syndrome 55
Amyotrophy Fat Tissue Anomaly 49
Nakajo Nishimura Syndrome 49
Aldd Syndrome 55
Praas 55
Jasl 24

Characteristics:

Orphanet epidemiological data:

55
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:

53
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
autoinflammation, lipodystrophy, and dermatosis syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

OMIM : 53 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 : Autoinflammation, Lipodystrophy, and Dermatosis Syndrome, also known as jmp syndrome, is related to mastitis and bone inflammation disease, and has symptoms including arthralgia, joint stiffness and muscle weakness. An important gene associated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome is PSMB8 (Proteasome Subunit Beta 8), and among its related pathways/superpathways are Proteasome and Innate Immune System. The drugs Cholecalciferol and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, skin and bone, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

UniProtKB/Swiss-Prot : 71 Nakajo syndrome: 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.

NIH Rare Diseases : 49 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. Last updated: 11/18/2015

Genetics Home Reference : 24 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).

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.

Related Diseases for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Diseases related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 461)
# Related Disease Score Top Affiliating Genes
1 mastitis 33.2 CXCL8 ICAM1 IL6
2 bone inflammation disease 33.2 CCL2 CRP CXCL8 IFNG IL10 IL1B
3 post-thrombotic syndrome 32.9 CCL2 ICAM1 IL6
4 myocarditis 32.8 ICAM1 IL6 TNF
5 dermatitis 32.6 CCL11 IFNG IL13 IL4 IL5 RNASE3
6 familial mediterranean fever 32.5 CRP IL1B TNF
7 temporal arteritis 32.5 CCL2 CRP IFNG IL6
8 crohn's disease 32.4 CRP IFNG IL10 IL1B IL6 TNF
9 lymphadenitis 32.3 CXCL8 ICAM1 IFNG IL10 IL1B TNF
10 kawasaki disease 32.2 CCL2 CRP IL10 IL6 SELE TNF
11 vasculitis 32.1 CCL2 CRP ICAM1 MPO SELE TNF
12 bronchitis 32.1 CCL11 CXCL8 IL5 MPO RNASE3 TNF
13 ulcerative colitis 32.1 CRP CXCL8 IFNG IL10 IL1B IL6
14 wegener granulomatosis 32.0 CRP CXCL8 IFNG IL10 IL6 MPO
15 meningitis 32.0 CCL2 CRP CXCL8 IFNG IL10 IL1B
16 rheumatoid arthritis 31.2 CCL2 CRP CXCL8 ICAM1 IFNG IL10
17 systemic lupus erythematosus 31.1 CCL2 CRP ICAM1 IFNG IL10 IL1B
18 asthma 30.4 CCL11 CCL2 CXCL8 ICAM1 IFNG IL10
19 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids 12.2
20 chronic orbital inflammation 12.1
21 acute orbital inflammation 12.1
22 nakajo syndrome 12.0
23 acute inflammation of lacrimal passage 12.0
24 chronic inflammation of lacrimal passage 12.0
25 diffuse large b-cell lymphoma with chronic inflammation 11.9
26 deafness, autosomal dominant 34, with or without inflammation 11.8
27 pars planitis 11.6
28 panuveitis 11.5
29 tolosa-hunt syndrome 11.5
30 sialadenitis 11.4
31 orchitis 11.4
32 tenosynovitis 11.4
33 singleton-merten syndrome 11.3
34 blepharitis 11.2
35 vogt-koyanagi-harada disease 11.2
36 spondyloarthropathy 1 11.2
37 mitochondrial dna depletion syndrome 6 11.2
38 choroiditis 11.1
39 chorioretinitis 11.1
40 acute disseminated encephalomyelitis 11.1
41 polymyositis 11.1
42 fatty liver disease 11.1
43 encephalitis 11.1
44 birdshot chorioretinopathy 11.0
45 mucositis 11.0
46 cholangitis, primary sclerosing 11.0
47 neuromyelitis optica 11.0
48 arachnoiditis 11.0
49 mpv17-related hepatocerebral mitochondrial dna depletion syndrome 10.9
50 punctate inner choroidopathy 10.7 IL10 TNF

Graphical network of the top 20 diseases related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:



Diseases related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Symptoms & Phenotypes for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Symptoms via clinical synopsis from OMIM:

53
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)

Growth Other:
failure to thrive
poor growth

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
conjunctivitis
episcleritis

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

Immunology:
antinuclear autoantibodies (in some)

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

Head And Neck Mouth:
macroglossia
thick lips

Hematology:
microcytic anemia

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)


Clinical features from OMIM:

256040

Human phenotypes related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

55 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0001324
4 abnormal pyramidal signs 55 31 occasional (7.5%) Occasional (29-5%) HP:0007256
5 hyperhidrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000975
6 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
7 macroglossia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000158
8 macrotia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000400
9 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
10 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
11 intellectual disability, mild 55 31 occasional (7.5%) Occasional (29-5%) HP:0001256
12 subcutaneous nodule 55 31 hallmark (90%) Very frequent (99-80%) HP:0001482
13 cardiomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001640
14 lipoatrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0100578
15 arrhythmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0011675
16 skeletal muscle atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003202
17 thick lower lip vermilion 55 31 occasional (7.5%) Occasional (29-5%) HP:0000179
18 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
19 microcytic anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001935
20 arthrogryposis multiplex congenita 55 31 hallmark (90%) Very frequent (99-80%) HP:0002804
21 arachnodactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001166
22 skin rash 55 31 hallmark (90%) Very frequent (99-80%) HP:0000988
23 hyperostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100774
24 clubbing of toes 55 31 frequent (33%) Frequent (79-30%) HP:0100760
25 lymphadenopathy 55 31 frequent (33%) Frequent (79-30%) HP:0002716
26 prominent nose 55 31 occasional (7.5%) Occasional (29-5%) HP:0000448
27 abnormality of the leydig cells 55 31 hallmark (90%) Very frequent (99-80%) HP:0010789
28 increased antibody level in blood 55 31 frequent (33%) Frequent (79-30%) HP:0010702
29 right bundle branch block 55 31 occasional (7.5%) Occasional (29-5%) HP:0011712
30 elevated erythrocyte sedimentation rate 55 31 hallmark (90%) Very frequent (99-80%) HP:0003565
31 erythema nodosum 55 31 hallmark (90%) Very frequent (99-80%) HP:0012219
32 lipodystrophy 55 31 Very frequent (99-80%) HP:0009125
33 episodic fever 55 31 hallmark (90%) Very frequent (99-80%) HP:0001954
34 clubbing of fingers 55 31 frequent (33%) Frequent (79-30%) HP:0100759
35 fever 55 Very frequent (99-80%)
36 seizures 31 occasional (7.5%) HP:0001250
37 bone pain 31 HP:0002653
38 osteopenia 31 HP:0000938
39 failure to thrive 31 HP:0001508
40 short stature 31 occasional (7.5%) HP:0004322
41 hypertriglyceridemia 31 HP:0002155
42 elevated hepatic transaminases 31 HP:0002910
43 abnormality of the face 55 Very frequent (99-80%)
44 erythema 31 HP:0010783
45 conjunctivitis 31 HP:0000509
46 camptodactyly of finger 31 HP:0100490
47 flexion contracture of toe 31 HP:0005830
48 episcleritis 31 HP:0100534
49 hyperpigmentation of the skin 31 HP:0000953
50 long fingers 31 HP:0100807

UMLS symptoms related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:


bone pain, muscle weakness, arthralgia, polydipsia, meningism, dyspepsia

GenomeRNAi Phenotypes related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 TNF CXCL8 ICAM1 IL10 IL1B MPO
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 PSMB8 TNF CXCL8 ICAM1 IL10 IL1B

MGI Mouse Phenotypes related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

43 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.41 IL6 MPO PSMB8 PTGS2 SELE SETD2
2 immune system MP:0005387 10.41 CCL11 CCL2 CRP ICAM1 IFNG IL10
3 homeostasis/metabolism MP:0005376 10.37 ICAM1 IFNG IL10 CRP IL13 IL1B
4 growth/size/body region MP:0005378 10.34 VCAM1 ICAM1 IFNG IL10 IL13 IL1B
5 cardiovascular system MP:0005385 10.33 CRP ICAM1 IFNG IL10 IL1B IL6
6 mortality/aging MP:0010768 10.22 IL10 IL13 IL1B IL4 IL6 MPO
7 digestive/alimentary MP:0005381 10.19 ICAM1 IFNG IL10 IL13 IL4 IL5
8 integument MP:0010771 10.16 IL10 IL13 IL1B IL4 IL6 PTGS2
9 liver/biliary system MP:0005370 10.03 IFNG IL10 IL4 IL5 IL6 PTGS2
10 muscle MP:0005369 9.97 ICAM1 IFNG IL10 IL13 IL6 MPO
11 neoplasm MP:0002006 9.97 ICAM1 IFNG IL10 IL1B IL5 IL6
12 reproductive system MP:0005389 9.91 IFNG IL10 IL13 IL4 IL5 IL6
13 respiratory system MP:0005388 9.85 CCL11 IFNG IL10 IL13 IL4 IL5
14 skeleton MP:0005390 9.61 TNF IFNG IL10 IL13 IL1B IL4
15 vision/eye MP:0005391 9.28 IFNG IL10 IL4 IL6 PTGS2 SELE

Drugs & Therapeutics for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Drugs for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 10883523 5280795 6221
2
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
4 Bone Density Conservation Agents Phase 4
5 Epoetin alfa Phase 4 113427-24-0
6 Ergocalciferols Phase 4
7 Hematinics Phase 4
8 Micronutrients Phase 4
9 Trace Elements Phase 4
10 Vitamins Phase 4
11 Calciferol Nutraceutical Phase 4
12 Vitamin D2 Nutraceutical Phase 4
13
Infliximab Approved Phase 3 170277-31-3
14 Antirheumatic Agents Phase 3
15 Dermatologic Agents Phase 3
16 Gastrointestinal Agents Phase 3
17
Angiotensin II Approved, Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
18
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
19
Cocaine Approved, Illicit 50-36-2 446220 5760
20
Menthol Approved 2216-51-5 16666
21
Ranibizumab Approved 347396-82-1 459903
22
Candesartan Experimental 139481-59-7 2541
23 Angiotensin II Type 1 Receptor Blockers
24 Angiotensin Receptor Antagonists
25 Angiotensinogen
26 Antihypertensive Agents
27
Candesartan cilexetil 145040-37-5 2540
28 diuretics
29 Natriuretic Agents
30 Sodium Chloride Symporter Inhibitors
31 Angiogenesis Inhibitors
32 Angiogenesis Modulating Agents

Interventional clinical trials:

(show all 14)

# Name Status NCT ID Phase Drugs
1 Correcting Anemia and Native Vitamin D Supplementation in Kidney Transplant Recipients Enrolling by invitation NCT01817699 Phase 4
2 Evaluation of Low Dose Infliximab in Ankylosing Spondylitis (Study P04352) Completed NCT00202865 Phase 3
3 Effects of Bright Light on Co-occurring Cancer-related Symptoms in Breast Cancer Survivors Recruiting NCT03304587 Phase 2
4 Bright Light on Fatigue in Women Being Treated for Breast Cancer Completed NCT02658708 Phase 1
5 Trial of an Intratumoral Injections of INXN-3001 in Subjects With Stage III or IV Melanoma Completed NCT00815607 Phase 1 INXN-1001
6 Candesartan and Candesartan/ Hydrochlorothiazide in the Treatment of Patients With Hypertension and LVH Completed NCT00607633
7 Pursed Lip Breathing in Interstitial Lung Disease Completed NCT02934750
8 Impact of Lung Flute Therapy on Asthma Completed NCT02003521
9 Effectiveness of Breathing Exercises as Therapeutic Play on Respiratory Status Among Children With Lower Respiratory Tract Disorders Completed NCT03225274
10 Promoting Fetal Movement Monitoring: Improving Birth Outcomes Completed NCT01844011
11 Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases) Recruiting NCT02974595
12 Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID / CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, Behcet's Disease, and Other Undifferentiated Autoinflammatory Diseases) Recruiting NCT00059748
13 Noctura400 Treatment for Diabetic Retinopathy (CANDLE) Active, not recruiting NCT02207712 Ranibizumab
14 Compassionate Use Protocol for the Treatment of Autoinflammatory Syndromes Available NCT01724580 Baricitinib

Search NIH Clinical Center for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: inflammation

Genetic Tests for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Anatomical Context for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

MalaCards organs/tissues related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

38
Neutrophil, Skin, Bone, Lung, Breast, Kidney, Heart

Publications for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Articles related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

# 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 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

71
# 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 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

6
# 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 PSMB8, GLY201VAL single nucleotide variant Pathogenic
4 PSMB8 PSMB8, CYS135TER single nucleotide variant Pathogenic

Expression for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Search GEO for disease gene expression data for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome.

Pathways for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Pathways related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Proteasome hsa03050

Pathways related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.17 CCL11 CCL2 CRP CXCL8 ICAM1 IFNG
2
Show member pathways
13.94 CCL11 CCL2 CXCL8 IL10 IL13 IL1B
3
Show member pathways
13.81 CCL11 CCL2 CXCL8 IFNG IL10 IL13
4
Show member pathways
13.72 CCL11 CCL2 CXCL8 ICAM1 IFNG IL10
5
Show member pathways
13.56 CCL11 CCL2 CXCL8 IL10 IL13 IL1B
6
Show member pathways
13.53 CCL11 CCL2 CXCL8 ICAM1 IFNG IL10
7
Show member pathways
13.47 CCL11 CCL2 CXCL8 IL10 IL13 IL1B
8
Show member pathways
13.06 CCL2 CXCL8 IL1B IL6 PTGS2 TNF
9
Show member pathways
13.05 CCL11 CXCL8 ICAM1 IFNG IL10 IL13
10
Show member pathways
13.01 CCL2 CXCL8 ICAM1 IFNG IL13 IL1B
11 13 CXCL8 IFNG IL13 IL4 IL5 IL6
12
Show member pathways
12.82 IFNG IL10 IL13 IL1B IL4 IL5
13
Show member pathways
12.8 CXCL8 IFNG IL1B IL6 TNF
14 12.8 CCL2 IFNG IL10 IL1B IL4 MPO
15
Show member pathways
12.78 CCL2 IFNG IL10 IL1B IL6 MPO
16
Show member pathways
12.72 CCL2 CXCL8 IFNG IL10 IL1B IL6
17
Show member pathways
12.68 IL13 IL4 IL5 PTGS2 TNF
18
Show member pathways
12.67 CXCL8 ICAM1 IL6 PTGS2 TNF
19
Show member pathways
12.63 IFNG IL10 IL1B IL4 IL5 IL6
20
Show member pathways
12.56 IFNG IL10 IL13 IL4 IL5 IL6
21
Show member pathways
12.56 CCL2 CRP ICAM1 IFNG IL1B IL4
22
Show member pathways
12.53 CCL2 ICAM1 PTGS2 SELE VCAM1
23
Show member pathways
12.51 CCL11 CCL2 CXCL8 IFNG IL13 IL1B
24
Show member pathways
12.46 ICAM1 IL10 PTGS2 VCAM1
25
Show member pathways
12.46 CXCL8 IFNG IL1B IL6 PTGS2 TNF
26
Show member pathways
12.45 IFNG IL10 IL1B IL4 PTGS2 TNF
27
Show member pathways
12.42 CCL11 CXCL8 IFNG IL1B IL4 IL6
28 12.38 IFNG IL10 IL1B IL6 TNF
29 12.37 CXCL8 IL10 IL13 IL1B IL6 TNF
30 12.33 CCL2 ICAM1 IFNG IL1B SELE TNF
31
Show member pathways
12.31 CXCL8 IFNG IL10 IL13 IL1B IL4
32 12.29 CCL11 CCL2 CXCL8 ICAM1 IL10 IL13
33 12.28 IFNG IL6 PTGS2 TNF
34
Show member pathways
12.27 CCL11 CCL2 CXCL8 ICAM1 VCAM1
35 12.24 IFNG IL10 IL4 IL5 IL6 MPO
36 12.23 CCL2 CXCL8 ICAM1 IFNG IL1B IL4
37 12.22 CCL2 ICAM1 IL1B IL6 PTGS2 SELE
38 12.17 CCL2 CXCL8 ICAM1 IL1B IL6 SELE
39
Show member pathways
12.13 IFNG IL10 IL1B IL6 TNF
40 12.13 CXCL8 IFNG IL10 IL1B IL6 TNF
41 12.12 CXCL8 ICAM1 IL1B PTGS2 TNF VCAM1
42 12.12 CCL2 CXCL8 ICAM1 IFNG IL1B IL6
43 12.09 IL1B IL4 IL5 IL6 TNF
44 12.07 CXCL8 IFNG IL1B IL6
45 12.07 CXCL8 ICAM1 IFNG IL13 IL4 IL5
46 12.05 IFNG IL10 IL13 IL1B IL4 IL5
47
Show member pathways
12.01 CXCL8 IFNG IL4 IL5 PTGS2 TNF
48
Show member pathways
12 IFNG IL1B IL4 IL6
49 11.97 CXCL8 IFNG IL1B IL6
50 11.97 CXCL8 IL10 IL1B IL6 TNF

GO Terms for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Cellular components related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 CCL11 CCL2 CRP CXCL8 IFNG IL10
2 extracellular space GO:0005615 9.55 CCL11 CCL2 CRP CXCL8 ICAM1 IFNG

Biological processes related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.99 IL10 MPO PTGS2 VCAM1
2 chemotaxis GO:0006935 9.99 CCL11 CCL2 CXCL8 IL4
3 cytokine-mediated signaling pathway GO:0019221 9.97 CCL2 IL1B IL5 IL6
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.96 ICAM1 IL1B IL6 TNF
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.92 IL6 PTGS2 TNF
6 defense response to Gram-positive bacterium GO:0050830 9.92 CRP IL6 RNASE3 TNF
7 cellular response to mechanical stimulus GO:0071260 9.91 IL13 IL1B PTGS2
8 cellular response to organic cyclic compound GO:0071407 9.91 CCL2 IL1B TNF
9 chemokine-mediated signaling pathway GO:0070098 9.91 CCL11 CCL2 CXCL8
10 regulation of inflammatory response GO:0050727 9.91 PTGS2 SELE TNF
11 movement of cell or subcellular component GO:0006928 9.91 CXCL8 IFNG IL13 PTGS2
12 cellular response to interleukin-1 GO:0071347 9.91 CCL11 CCL2 CXCL8 ICAM1
13 cellular response to tumor necrosis factor GO:0071356 9.91 CCL11 CCL2 CXCL8 ICAM1 VCAM1
14 interferon-gamma-mediated signaling pathway GO:0060333 9.9 ICAM1 IFNG VCAM1
15 regulation of insulin secretion GO:0050796 9.9 IFNG IL1B TNF
16 B cell differentiation GO:0030183 9.9 IL10 IL4 VCAM1
17 immune response GO:0006955 9.9 CCL11 CCL2 CXCL8 IFNG IL10 IL13
18 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.89 IFNG IL13 IL6
19 neutrophil chemotaxis GO:0030593 9.88 CCL11 CCL2 CXCL8 IL1B
20 positive regulation of DNA binding transcription factor activity GO:0051091 9.88 IL10 IL1B IL5 IL6 TNF
21 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.87 ICAM1 SELE VCAM1
22 response to glucocorticoid GO:0051384 9.87 IL10 IL6 PTGS2 TNF
23 positive regulation of interleukin-6 production GO:0032755 9.86 IL1B IL6 TNF
24 positive regulation of T cell proliferation GO:0042102 9.86 IL1B IL4 IL6 VCAM1
25 response to lipopolysaccharide GO:0032496 9.86 ICAM1 IL10 IL13 IL1B MPO PTGS2
26 protein kinase B signaling GO:0043491 9.85 CCL2 IL1B TNF
27 monocyte chemotaxis GO:0002548 9.85 CCL11 CCL2 IL6
28 positive regulation of smooth muscle cell proliferation GO:0048661 9.85 IL13 IL6 PTGS2 TNF
29 cellular response to lipopolysaccharide GO:0071222 9.85 CCL2 CXCL8 ICAM1 IL10 IL6 TNF
30 positive regulation of B cell proliferation GO:0030890 9.84 IL13 IL4 IL5
31 humoral immune response GO:0006959 9.84 CCL2 IFNG IL6 TNF
32 lipopolysaccharide-mediated signaling pathway GO:0031663 9.82 CCL2 IL1B TNF
33 leukocyte cell-cell adhesion GO:0007159 9.81 ICAM1 SELE VCAM1
34 positive regulation of NF-kappaB import into nucleus GO:0042346 9.79 IL1B PTGS2 TNF
35 leukocyte tethering or rolling GO:0050901 9.77 SELE TNF VCAM1
36 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.77 IFNG IL1B TNF
37 negative regulation of growth of symbiont in host GO:0044130 9.76 IL10 MPO TNF
38 negative regulation of endothelial cell apoptotic process GO:2000352 9.76 ICAM1 IL10 IL13 IL4
39 negative regulation of blood vessel diameter GO:0097756 9.74 CRP PTGS2
40 positive regulation of chemokine biosynthetic process GO:0045080 9.72 IL1B TNF
41 positive regulation of nitric oxide biosynthetic process GO:0045429 9.72 ICAM1 IFNG IL1B PTGS2 TNF
42 chronic inflammatory response GO:0002544 9.71 CCL11 VCAM1
43 endothelial cell apoptotic process GO:0072577 9.71 IL10 TNF
44 regulation of establishment of endothelial barrier GO:1903140 9.71 IL1B TNF
45 positive regulation of MHC class II biosynthetic process GO:0045348 9.71 IL10 IL4
46 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.7 ICAM1 TNF
47 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 IL10 TNF
48 type 2 immune response GO:0042092 9.7 IL10 IL4
49 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.7 IL10 IL1B TNF
50 regulation of receptor activity GO:0010469 9.7 CCL11 CCL2 CXCL8 IFNG IL10 IL13

Molecular functions related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.36 CCL11 CCL2 CXCL8 IFNG IL10 IL13
2 chemokine activity GO:0008009 9.33 CCL11 CCL2 CXCL8
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 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
52