MCID: ATN007
MIFTS: 63

Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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

Aliases & Classifications for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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

Name: Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 54 24 25 71 13
Nakajo-Nishimura Syndrome 24 25 56 71
Nakajo Syndrome 25 71 69
Jmp Syndrome 24 56 71
Nkjo 24 25 71
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 24 71
Chronic Atypical Neutrophilic Dermatosis-Lipodystrophy-Elevated Temperature Syndrome 50 56
Secondary Hypertrophic Osteoperiostosis with Pernio 56 71
Candle Syndrome 50 56
Inflammation 42 69
Candle 24 71
Aldd 24 25
Nns 56 71
Joint Contractures-Muscular Atrophy-Microcytic Anemia-Panniculitis-Associated Lipodystrophy Syndrome 56
Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy 24
Joint Contractures Muscular Atrophy Microcytic Anemia and Panniculitis-Induced Lipodystrophy 71
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature 50
Japanese Autoinflammatory Syndrome with Lipodystrophy 25
Autoinflammation-Lipodystrophy-Dermatosis Syndrome 56
Proteasome-Associated Autoinflammatory Syndrome 56
Amyotrophy-Fat Tissue Anomaly Syndrome 56
Nodular Erythema with Digital Changes 71
Proteasome Disability Syndrome 56
Amyotrophy Fat Tissue Anomaly 50
Nakajo Nishimura Syndrome 50
Aldd Syndrome 56
Praas 56
Jasl 25

Characteristics:

Orphanet epidemiological data:

56
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:

54
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
autoinflammation, lipodystrophy, and dermatosis syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

OMIM : 54
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 nakajo-nishimura syndrome, is related to ulcerative colitis and melorheostosis, and has symptoms including macroglossia, hepatomegaly and splenomegaly. An important gene associated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome is PSMB8 (Proteasome Subunit Beta 8), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. 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 hematopoietic system

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 : 50 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

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.

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 462)
id Related Disease Score Top Affiliating Genes
1 ulcerative colitis 33.0 IL10 IL6 TNF
2 melorheostosis 32.6 CRP ICAM1 IL6
3 choroiditis 32.4 CCL2 CRP CXCL8 IL10 IL1B IL6
4 liver disease 31.1 ICAM1 IL1B VCAM1
5 systemic lupus erythematosus 31.1 CCL2 CRP ICAM1 IFNG IL10 IL4
6 rheumatoid arthritis 31.0 CCL2 CRP CXCL8 ICAM1 IFNG IL10
7 asthma 30.4 CCL11 CXCL8 ICAM1 IFNG IL10 IL13
8 nakajo syndrome 12.1
9 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids 12.0
10 acute orbital inflammation 11.9
11 chronic orbital inflammation 11.9
12 bone inflammation disease 11.9
13 chronic inflammation of lacrimal passage 11.9
14 acute inflammation of lacrimal passage 11.9
15 jmp syndrome 11.9
16 diffuse large b-cell lymphoma with chronic inflammation 11.8
17 pars planitis 11.5
18 myocarditis 11.4
19 panuveitis 11.4
20 dermatitis 11.4
21 tolosa-hunt syndrome 11.4
22 mastitis 11.3
23 sialadenitis 11.3
24 orchitis 11.3
25 tenosynovitis 11.3
26 post-thrombotic syndrome 11.2
27 blepharitis 11.1
28 crohn's disease 11.1
29 epstein-barr virus hepatitis 11.1 CRP IL6 TNF
30 spirillary rat-bite fever 11.1 CXCL8 IL6 TNF
31 oculomotor nerve paralysis 11.0 CXCL8 IL1B IL6
32 lymph node palisaded myofibroblastoma 11.0 CCL11 CXCL8 IL10
33 hidradenitis suppurativa 11.0 CCL11 CXCL8 IL10
34 pure autonomic failure 11.0 IL10 TNF
35 x-linked dominant intellectual disability-epilepsy syndrome 11.0 CRP IL1B IL6
36 scrotal carcinoma 11.0 IL1B IL6 TNF
37 drug rash with eosinophilia and systemic symptoms 11.0 CXCL8 IL10 IL6
38 antigen-peptide-transporter 2 deficiency 11.0 CCL2 IL6 TNF
39 schwannoma of ureter 11.0 CCL2 CXCL8 IL6
40 ethmoid sinus adenocarcinoma 11.0 IL10 IL6 TNF
41 vogt-koyanagi-harada disease 11.0
42 upper gum cancer 11.0 IL1B IL6 TNF
43 bipolar i disorder 11.0 IL1B IL6 TNF
44 solitary cyst of breast 11.0 CCL11 CRP IL5
45 cytomegalovirus retinitis 11.0 CCL2 CXCL8 ICAM1
46 sternal cleft 11.0 IFNG IL1B TNF
47 chorioretinitis 11.0
48 tinea favosa 11.0 IL1B IL6 TNF
49 lymphadenitis 11.0
50 indolent myeloma 11.0 IL1B IL6 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:

54

Growth- Other:
failure to thrive
poor growth

Head And Neck- Mouth:
macroglossia
thick lips

Abdomen- Liver:
hepatomegaly

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)

Neurologic- Central Nervous System:
seizures (uncommon)
basal ganglia calcification
mental retardation, mild (2 families)

Head And Neck- Eyes:
conjunctivitis
episcleritis

Growth- Height:
short stature (less common)

Cardiovascular- Heart:
cardiac insufficiency (in some)
arrhythmias (in some)

Abdomen- Spleen:
splenomegaly (variable)

Skin Nails & Hair- Skin Histology:
mononuclear cell infiltrates
atypical mononuclear cells with many mitoses

Immunology:
antinuclear autoantibodies (in some)

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

Skin Nails & Hair- Skin:
panniculitis
erythematous nodular skin lesions
annular erythematous edematous plaques
lesions become purpuric
residual hyperpigmentation
more
Skeletal- Limbs:
elbow contractures

Skeletal- Hands:
long fingers
finger contractures, severe
hand contractures, severe
clubbed fingers
finger deformities
more
Laboratory- Abnormalities:
hypergammaglobulinemia
increased serum triglycerides
increased c-reactive protein
increased erythrocyte sedimentation rate
increased gamma-interferon
more
Hematology:
microcytic anemia

Head And Neck- Face:
loss of facial subcutaneous fat
periorbital swelling due to violaceous plaques on the eyelids

Abdomen:
prominent abdomen

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:

56 32 (show top 50) (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000158
2 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
3 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001744
4 cardiomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001640
5 arthrogryposis multiplex congenita 56 32 hallmark (90%) Very frequent (99-80%) HP:0002804
6 muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0001324
7 intellectual disability, mild 56 32 occasional (7.5%) Occasional (29-5%) HP:0001256
8 prominent nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0000448
9 arrhythmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011675
10 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
11 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
12 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
13 lymphadenopathy 56 32 frequent (33%) Frequent (79-30%) HP:0002716
14 clubbing of fingers 56 32 frequent (33%) Frequent (79-30%) HP:0100759
15 arachnodactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001166
16 lipodystrophy 56 32 Very frequent (99-80%) HP:0009125
17 right bundle branch block 56 32 occasional (7.5%) Occasional (29-5%) HP:0011712
18 hyperhidrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000975
19 skin rash 56 32 hallmark (90%) Very frequent (99-80%) HP:0000988
20 arthralgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002829
21 microcytic anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001935
22 lipoatrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0100578
23 erythema nodosum 56 32 hallmark (90%) Very frequent (99-80%) HP:0012219
24 thick lower lip vermilion 56 32 occasional (7.5%) Occasional (29-5%) HP:0000179
25 macrotia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000400
26 episodic fever 56 32 hallmark (90%) Very frequent (99-80%) HP:0001954
27 elevated erythrocyte sedimentation rate 56 32 hallmark (90%) Very frequent (99-80%) HP:0003565
28 hyperostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100774
29 clubbing of toes 56 32 frequent (33%) Frequent (79-30%) HP:0100760
30 abnormal pyramidal signs 56 32 occasional (7.5%) Occasional (29-5%) HP:0007256
31 subcutaneous nodule 56 32 hallmark (90%) Very frequent (99-80%) HP:0001482
32 skeletal muscle atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0003202
33 abnormality of the leydig cells 56 32 hallmark (90%) Very frequent (99-80%) HP:0010789
34 increased antibody level in blood 56 32 frequent (33%) Frequent (79-30%) HP:0010702
35 short stature 32 occasional (7.5%) HP:0004322
36 failure to thrive 32 HP:0001508
37 panniculitis 32 HP:0012490
38 hypertriglyceridemia 32 HP:0002155
39 seizures 32 occasional (7.5%) HP:0001250
40 long fingers 32 HP:0100807
41 osteopenia 32 HP:0000938
42 elbow flexion contracture 32 HP:0002987
43 bone pain 32 HP:0002653
44 fever 56 Very frequent (99-80%)
45 conjunctivitis 32 HP:0000509
46 basal ganglia calcification 32 HP:0002135
47 erythema 32 HP:0010783
48 large eyes 32 HP:0001090
49 episcleritis 32 HP:0100534
50 elevated hepatic transaminases 32 HP:0002910

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


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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 IL1B MPO PSMB8 TNF CXCL8 ICAM1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 MPO PSMB8 TNF CXCL8 ICAM1 IL10

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

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.41 IL13 IL1B IL4 IL5 IL6 MPO
2 immune system MP:0005387 10.41 CCL11 CCL2 CRP ICAM1 IFNG IL10
3 homeostasis/metabolism MP:0005376 10.37 CRP ICAM1 IFNG IL10 IL13 IL1B
4 cardiovascular system MP:0005385 10.33 TNF VCAM1 CRP ICAM1 IFNG IL10
5 growth/size/body region MP:0005378 10.3 ICAM1 IFNG IL10 IL13 IL4 IL5
6 mortality/aging MP:0010768 10.22 TNF VCAM1 ICAM1 IFNG IL10 IL13
7 digestive/alimentary MP:0005381 10.19 ICAM1 IFNG IL10 IL13 IL4 IL5
8 integument MP:0010771 10.16 ICAM1 IFNG IL10 IL13 IL1B IL4
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 PTGS2 SELE TNF CCL11 IFNG IL10
14 skeleton MP:0005390 9.61 IL6 PTGS2 SETD2 TNF IFNG IL10
15 vision/eye MP:0005391 9.28 SETD2 TNF ICAM1 IFNG IL10 IL4

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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
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
Candesartan Approved 139481-59-7 2541
18
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
19
Cocaine Approved, Illicit 50-36-2 5760 446220
20
Menthol Approved 2216-51-5 16666
21
Ranibizumab Approved 347396-82-1 459903
22
Angiotensin II Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
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)

id 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 Not yet 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 Noctura400 Treatment for Diabetic Retinopathy (CANDLE) Recruiting NCT02207712 Ranibizumab
12 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
13 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
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 48 :


Cochrane evidence based reviews: inflammation

Genetic Tests for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Genetic tests related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

id Genetic test Affiliating Genes
1 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 24 PSMB8

Anatomical Context for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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

39
Neutrophil, Skin, Bone, Lung, Breast, Eye, Kidney

Publications for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Variations for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 PSMB8 PSMB8, CYS135TER single nucleotide variant Pathogenic
2 PSMB8 PSMB8, THR75MET single nucleotide variant Pathogenic
3 PSMB8 NM_004159.4(PSMB8): c.590G> T (p.Gly197Val) single nucleotide variant Pathogenic rs387906680 GRCh37 Chromosome 6, 32809448: 32809448
4 PSMB8 PSMB8, GLY201VAL 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 GeneCards Suite gene sharing:

(show top 50) (show all 80)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.17 CCL11 CCL2 CRP CXCL8 ICAM1 IFNG
2
Show member pathways
13.95 CCL11 CCL2 CXCL8 IL10 IL13 IL1B
3
Show member pathways
13.81 CCL11 CCL2 CXCL8 IFNG IL10 IL13
4
Show member pathways
13.71 CCL11 CCL2 CXCL8 ICAM1 IFNG IL10
5
Show member pathways
13.56 CCL11 CCL2 CXCL8 IL10 IL13 IL1B
6
Show member pathways
13.52 CCL11 CCL2 CXCL8 ICAM1 IFNG IL10
7
Show member pathways
13.46 CCL11 CCL2 CXCL8 IL10 IL13 IL1B
8
Show member pathways
13.07 CCL2 CXCL8 IL1B IL6 PTGS2 TNF
9
Show member pathways
13.04 CCL11 CXCL8 ICAM1 IFNG IL10 IL13
10
Show member pathways
13.03 CCL2 CXCL8 IFNG IL10 IL1B IL6
11
Show member pathways
13 CCL2 CXCL8 ICAM1 IFNG IL13 IL1B
12
Show member pathways
12.81 IFNG IL10 IL13 IL1B IL4 IL5
13
Show member pathways
12.8 CXCL8 IFNG IL1B IL6 TNF
14 12.78 CCL2 IFNG IL10 IL1B IL4 MPO
15
Show member pathways
12.77 CCL2 IFNG IL10 IL1B IL6 MPO
16
Show member pathways
12.68 IL13 IL4 IL5 PTGS2 TNF
17
Show member pathways
12.63 IFNG IL10 IL1B IL4 IL5 IL6
18
Show member pathways
12.52 CCL2 ICAM1 PTGS2 SELE VCAM1
19
Show member pathways
12.51 CCL11 CCL2 CXCL8 IFNG IL13 IL1B
20
Show member pathways
12.45 CXCL8 IFNG IL1B IL6 PTGS2 TNF
21
Show member pathways
12.44 IFNG IL10 IL1B IL4 PTGS2 TNF
22
Show member pathways
12.41 CCL11 CXCL8 IFNG IL1B IL4 IL6
23
Show member pathways
12.4 IFNG IL10 IL13 IL4 IL5 IL6
24 12.38 IFNG IL10 IL1B IL6 TNF
25 12.37 CXCL8 IL10 IL13 IL1B IL6 TNF
26 12.32 CCL2 ICAM1 IFNG IL1B SELE TNF
27
Show member pathways
12.31 CXCL8 IFNG IL10 IL13 IL1B IL4
28 12.29 CCL11 CCL2 CXCL8 ICAM1 IL10 IL13
29 12.27 IFNG IL6 PTGS2 TNF
30 12.24 IFNG IL10 IL4 IL5 IL6 MPO
31 12.23 CCL2 CXCL8 ICAM1 IFNG IL1B IL4
32 12.21 CCL2 ICAM1 IL1B IL6 PTGS2 SELE
33 12.16 CCL2 CXCL8 ICAM1 IL1B IL6 SELE
34
Show member pathways
12.13 IFNG IL10 IL1B IL6 TNF
35 12.13 CXCL8 IFNG IL10 IL1B IL6 TNF
36 12.12 CXCL8 ICAM1 IL1B PTGS2 TNF VCAM1
37 12.11 CCL2 CXCL8 ICAM1 IFNG IL1B IL6
38 12.09 IL1B IL4 IL5 IL6 TNF
39 12.06 CXCL8 IFNG IL1B IL6
40 12.06 CXCL8 ICAM1 IFNG IL13 IL4 IL5
41 12.05 IFNG IL10 IL13 IL1B IL4 IL5
42
Show member pathways
12.04 IFNG IL1B IL4 IL6
43
Show member pathways
12 CXCL8 IFNG IL4 IL5 PTGS2 TNF
44 11.98 ICAM1 IL10 IL4 IL5 IL6 TNF
45 11.96 CXCL8 IFNG IL1B IL6
46 11.96 CXCL8 IL10 IL1B IL6 TNF
47 11.96 IFNG IL10 IL1B IL6 TNF
48 11.83 CCL11 IL10 IL4 IL5
49 11.77 CCL11 IFNG IL10 IL13 IL4 IL5
50 11.76 CXCL8 IFNG IL6 SELE

GO Terms for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 CCL11 CCL2 CRP CXCL8 IFNG IL10
2 external side of plasma membrane GO:0009897 9.7 ICAM1 IFNG IL13 IL4 IL6 TNF
3 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 98)
id Name GO ID Score Top Affiliating Genes
1 defense response to Gram-positive bacterium GO:0050830 9.97 CRP IL6 RNASE3 TNF
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.97 ICAM1 IL4 IL5 IL6
3 movement of cell or subcellular component GO:0006928 9.96 CXCL8 IFNG IL13 PTGS2
4 cellular response to mechanical stimulus GO:0071260 9.95 IL13 IL1B PTGS2
5 cellular response to organic cyclic compound GO:0071407 9.95 CCL2 IL1B TNF
6 chemokine-mediated signaling pathway GO:0070098 9.95 CCL11 CCL2 CXCL8
7 cellular response to interleukin-1 GO:0071347 9.95 CCL11 CCL2 CXCL8 ICAM1 IL6
8 regulation of inflammatory response GO:0050727 9.94 IL4 PTGS2 SELE
9 interferon-gamma-mediated signaling pathway GO:0060333 9.94 ICAM1 IFNG VCAM1
10 response to insulin GO:0032868 9.94 ICAM1 IL10 IL6
11 regulation of insulin secretion GO:0050796 9.94 IFNG IL1B TNF
12 B cell differentiation GO:0030183 9.94 IL10 IL4 VCAM1
13 positive regulation of endothelial cell proliferation GO:0001938 9.94 CCL11 CCL2 IL10
14 response to mechanical stimulus GO:0009612 9.94 CCL2 IL13 IL6 MPO
15 response to cytokine GO:0034097 9.93 IL4 IL6 PTGS2
16 cellular response to interferon-gamma GO:0071346 9.93 CCL11 CCL2 ICAM1
17 positive regulation of smooth muscle cell proliferation GO:0048661 9.93 IL13 IL6 PTGS2 TNF
18 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.92 ICAM1 SELE VCAM1
19 humoral immune response GO:0006959 9.92 CCL2 IFNG IL6 TNF
20 response to glucocorticoid GO:0051384 9.92 CCL2 IL10 IL6 PTGS2 TNF
21 positive regulation of cell adhesion GO:0045785 9.91 CCL2 IFNG TNF
22 positive regulation of interleukin-6 production GO:0032755 9.91 IL1B IL6 TNF
23 neutrophil chemotaxis GO:0030593 9.91 CCL11 CCL2 CXCL8 IFNG IL1B
24 cellular response to tumor necrosis factor GO:0071356 9.91 CCL11 CCL2 CXCL8 ICAM1 IL6 VCAM1
25 monocyte chemotaxis GO:0002548 9.9 CCL11 CCL2 IL6
26 positive regulation of B cell proliferation GO:0030890 9.9 IL13 IL4 IL5
27 immune response GO:0006955 9.9 CCL11 CCL2 CXCL8 IFNG IL10 IL13
28 cellular response to estradiol stimulus GO:0071392 9.89 CCL2 IL10 IL6
29 cellular response to dexamethasone stimulus GO:0071549 9.88 CCL2 ICAM1 IL6
30 protein kinase B signaling GO:0043491 9.88 CCL2 IL1B TNF
31 response to amino acid GO:0043200 9.88 CCL2 ICAM1 IL6
32 negative regulation of endothelial cell apoptotic process GO:2000352 9.88 ICAM1 IL10 IL13 IL4
33 positive regulation of T cell proliferation GO:0042102 9.88 IFNG IL1B IL4 IL6 VCAM1
34 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.88 IL10 IL1B IL4 IL5 IL6 TNF
35 lipopolysaccharide-mediated signaling pathway GO:0031663 9.87 CCL2 IL1B TNF
36 cellular response to lipopolysaccharide GO:0071222 9.87 CCL2 CXCL8 ICAM1 IFNG IL10 IL6
37 response to tumor necrosis factor GO:0034612 9.86 CCL2 PTGS2 SELE
38 leukocyte cell-cell adhesion GO:0007159 9.85 ICAM1 SELE VCAM1
39 positive regulation of NF-kappaB import into nucleus GO:0042346 9.84 IL1B PTGS2 TNF
40 defense response to protozoan GO:0042832 9.84 IFNG IL10 IL4 IL6
41 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.82 IFNG IL1B TNF
42 leukocyte tethering or rolling GO:0050901 9.82 SELE TNF VCAM1
43 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.81 IFNG IL4 IL6
44 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.79 IL10 IL1B TNF
45 negative regulation of lipid storage GO:0010888 9.79 CRP IL6 TNF
46 positive regulation of podosome assembly GO:0071803 9.78 IL5 TNF
47 chronic inflammatory response GO:0002544 9.78 CCL11 CCL2 VCAM1
48 leukocyte migration involved in inflammatory response GO:0002523 9.77 CCL2 SELE
49 positive regulation of mast cell degranulation GO:0043306 9.77 IL13 IL4
50 positive regulation of isotype switching to IgG isotypes GO:0048304 9.77 IFNG IL4

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

id 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

Sources for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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