MCID: ATN007
MIFTS: 69

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 57 25 75 13
Jmp Syndrome 57 12 53 59 75 15
Nakajo-Nishimura Syndrome 57 25 59 75
Nakajo Syndrome 25 75 73
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
Inflammation 44 73
Candle 57 75
Aldd 57 25
Nns 59 75
Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy; Jmp Syndrome 57
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
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
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
autoinflammation, lipodystrophy, and dermatosis syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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 : Autoinflammation, Lipodystrophy, and Dermatosis Syndrome, also known as jmp syndrome, is related to mastitis and post-thrombotic syndrome, and has symptoms including dyspepsia, meningism and polydipsia. 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 Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, skin and bone, and related phenotypes are hyperhidrosis and muscle weakness

UniProtKB/Swiss-Prot : 75 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 : 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.

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).

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 467)
# Related Disease Score Top Affiliating Genes
1 mastitis 33.8 CXCL8 ICAM1 IL6
2 post-thrombotic syndrome 33.5 CCL2 ICAM1 IL6
3 myocarditis 33.4 ICAM1 IL6 TNF
4 crohn's disease 33.1 CRP IL10 IL1B IL6 TNF
5 bone inflammation disease 33.0 CCL2 CRP CXCL8 IFNG IL10 IL1B
6 dermatitis 32.9 CCL11 IFNG IL13 IL4 IL5 RNASE3
7 lymphadenitis 32.7 CXCL8 ICAM1 IFNG IL10 IL1B TNF
8 ulcerative colitis 32.5 CRP CXCL8 IL10 IL1B IL6 MPO
9 vasculitis 32.3 CCL2 CRP ICAM1 MPO SELE TNF
10 wegener granulomatosis 32.2 CRP CXCL8 IFNG IL10 IL6 MPO
11 rheumatoid arthritis 30.7 CCL2 CRP CXCL8 ICAM1 IFNG IL10
12 multiple sclerosis 29.5 CCL2 ICAM1 IFNG IL10 IL1B IL4
13 pneumonia 29.4 CCL11 CCL2 CRP CXCL8 IL10 IL13
14 nakajo syndrome 12.3
15 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids 12.2
16 acute orbital inflammation 12.2
17 deafness, autosomal dominant 34, with or without inflammation 12.1
18 chronic orbital inflammation 12.1
19 acute inflammation of lacrimal passage 12.0
20 chronic inflammation of lacrimal passage 12.0
21 diffuse large b-cell lymphoma with chronic inflammation 11.9
22 melorheostosis 11.6
23 pars planitis 11.6
24 panuveitis 11.5
25 tolosa-hunt syndrome 11.5
26 sialadenitis 11.4
27 orchitis 11.4
28 tenosynovitis 11.4
29 singleton-merten syndrome 11.3
30 blepharitis 11.2
31 vogt-koyanagi-harada disease 11.2
32 punctate inner choroidopathy 11.2 IL10 TNF
33 streptococcal toxic-shock syndrome 11.2 CXCL8 IL6 TNF
34 recurrent corneal erosion 11.2 CXCL8 IL1B IL6
35 mitochondrial dna depletion syndrome 6 11.2
36 scorpion envenomation 11.2 IL6 TNF
37 scabies 11.2 CCL11 CXCL8 IL10
38 uremic pruritus 11.1 CRP IL1B IL6
39 spondyloarthropathy 1 11.1
40 vulvovaginitis 11.1 CCL11 CXCL8 IL10
41 choroiditis 11.1
42 laryngitis 11.1 IL1B IL6 TNF
43 acute transverse myelitis 11.1 CXCL8 IL10 IL6
44 haemophilus influenzae 11.1 CXCL8 IL1B TNF
45 acute vascular insufficiency of intestine 11.1 IL1B IL6 TNF
46 poems syndrome 11.1 IL1B IL6 TNF
47 denture stomatitis 11.1 CCL2 CXCL8 IL6
48 enteropathy-associated t-cell lymphoma 11.1 CCL11 SETD2
49 ischemic heart disease 11.1 CRP IL6 TNF
50 osteosclerotic myeloma 11.1 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:

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:
microcytic anemia

Skeletal:
bone pain
joint contractures
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
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

AbdomenSpleen:
splenomegaly (variable)

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

Immunology:
antinuclear autoantibodies (in some)

Growth Other:
failure to thrive
poor growth

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
conjunctivitis
episcleritis

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:

59 32 (show top 50) (show all 58)
# 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 abnormal pyramidal signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
5 macroglossia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000158
6 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
7 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
8 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
9 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
10 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
11 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
12 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
13 cardiomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001640
14 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
15 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
16 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
17 thick lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000179
18 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
19 microcytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001935
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 lipodystrophy 59 32 Very frequent (99-80%) HP:0009125
33 episodic fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001954
34 clubbing of fingers 59 32 frequent (33%) Frequent (79-30%) HP:0100759
35 osteopenia 32 HP:0000938
36 seizures 32 occasional (7.5%) HP:0001250
37 failure to thrive 32 HP:0001508
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 elevated hepatic transaminases 32 HP:0002910
43 abnormality of the face 59 Very frequent (99-80%)
44 erythema 32 HP:0010783
45 conjunctivitis 32 HP:0000509
46 bone pain 32 HP:0002653
47 camptodactyly of finger 32 HP:0100490
48 flexion contracture of toe 32 HP:0005830
49 episcleritis 32 HP:0100534
50 hyperpigmentation of the skin 32 HP:0000953

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

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

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10.43 TNF VCAM1 CCL11 CCL2 CRP ICAM1
2 hematopoietic system MP:0005397 10.41 CCL11 ICAM1 IFNG IL10 IL13 IL1B
3 homeostasis/metabolism MP:0005376 10.37 CRP ICAM1 IFNG IL10 IL13 IL1B
4 growth/size/body region MP:0005378 10.34 IFNG IL10 IL13 IL1B IL4 IL5
5 cardiovascular system MP:0005385 10.33 IL1B IL6 MPO PTGS2 SELE SETD2
6 mortality/aging MP:0010768 10.22 ICAM1 IFNG IL10 IL13 IL1B IL4
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 TNF IFNG IL10 IL4 IL5 IL6
10 neoplasm MP:0002006 10.02 ICAM1 IFNG IL10 IL1B IL5 IL6
11 muscle MP:0005369 9.97 ICAM1 IFNG IL10 IL13 IL6 MPO
12 reproductive system MP:0005389 9.91 TNF VCAM1 IFNG IL10 IL13 IL4
13 respiratory system MP:0005388 9.85 IFNG IL10 IL13 IL4 IL5 IL6
14 skeleton MP:0005390 9.61 TNF IFNG IL10 IL13 IL1B IL4
15 vision/eye MP:0005391 9.28 ICAM1 IFNG IL10 IL4 IL6 PTGS2

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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
3
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
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 Antibodies Phase 1
18 Antibodies, Monoclonal Phase 1
19 glucocorticoids Phase 1
20 Hormone Antagonists Phase 1
21 Hormones Phase 1
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
23 Immunoglobulins Phase 1
24
Angiotensin II Approved, Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
25
Candesartan cilexetil Approved 145040-37-5 2540
26
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
27
Cocaine Approved, Illicit Not Applicable 50-36-2 5760 446220
28
Menthol Approved Not Applicable 2216-51-5 16666
29
Ranibizumab Approved Not Applicable 347396-82-1 459903
30
Candesartan Experimental 139481-59-7 2541
31 Angiotensin II Type 1 Receptor Blockers
32 Angiotensin Receptor Antagonists
33 Angiotensinogen
34 Antihypertensive Agents
35 diuretics
36 Natriuretic Agents
37 Sodium Chloride Symporter Inhibitors
38 Angiogenesis Inhibitors Not Applicable
39 Angiogenesis Modulating Agents Not Applicable

Interventional clinical trials:

(show all 16)
# 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 Ublituximab for Acute Neuromyelitis Optica (NMO) Relapses Active, not recruiting NCT02276963 Phase 1 Ublituximab
7 Candesartan and Candesartan/ Hydrochlorothiazide in the Treatment of Patients With Hypertension and LVH Completed NCT00607633
8 Pursed Lip Breathing in Interstitial Lung Disease Completed NCT02934750 Not Applicable
9 Impact of Lung Flute Therapy on Asthma Completed NCT02003521
10 Effectiveness of Breathing Exercises as Therapeutic Play on Respiratory Status Among Children With Lower Respiratory Tract Disorders Completed NCT03225274 Not Applicable
11 Promoting Fetal Movement Monitoring: Improving Birth Outcomes Completed NCT01844011 Not Applicable
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 Assessment of Near Vision Capacity in Different Light Conditions Following Bilateral Trifocal Intraocular Implantation Recruiting NCT03226561 Not Applicable
15 Noctura400 Treatment for Diabetic Retinopathy (CANDLE) Active, not recruiting NCT02207712 Not Applicable Ranibizumab
16 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 73 / NDF-RT 51 :


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:

41
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:

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 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

6
(show top 50) (show all 53)
# 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 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.804G> A (p.Leu268=) single nucleotide variant Conflicting interpretations of pathogenicity rs371969268 GRCh37 Chromosome 6, 32808763: 32808763
15 PSMB8 NM_148919.3(PSMB8): c.804G> A (p.Leu268=) single nucleotide variant Conflicting interpretations of pathogenicity rs371969268 GRCh38 Chromosome 6, 32840986: 32840986
16 PSMB8 NM_148919.3(PSMB8): c.701A> G (p.Tyr234Cys) single nucleotide variant Uncertain significance rs55853041 GRCh37 Chromosome 6, 32809349: 32809349
17 PSMB8 NM_148919.3(PSMB8): c.701A> G (p.Tyr234Cys) single nucleotide variant Uncertain significance rs55853041 GRCh38 Chromosome 6, 32841572: 32841572
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 GRCh38 Chromosome 6, 32843868: 32843868
21 PSMB8 NM_148919.3(PSMB8): c.129T> C (p.Ala43=) single nucleotide variant Likely benign rs2071542 GRCh37 Chromosome 6, 32811645: 32811645
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 GRCh38 Chromosome 6, 32840935: 32840935
31 PSMB8 NM_148919.3(PSMB8): c.*24G> T single nucleotide variant Uncertain significance rs115441230 GRCh37 Chromosome 6, 32808712: 32808712
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 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:

37
# 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 80)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.15 CCL11 CCL2 CRP CXCL8 ICAM1 IFNG
2
Show member pathways
13.95 CCL11 CCL2 CXCL8 IL10 IL13 IL1B
3
Show member pathways
13.82 CCL11 CCL2 CXCL8 IFNG IL10 IL13
4
Show member pathways
13.68 CCL11 CCL2 CXCL8 IFNG IL10 IL13
5
Show member pathways
13.55 CCL11 CCL2 CXCL8 IL10 IL13 IL1B
6
Show member pathways
13.5 CCL11 CCL2 CXCL8 ICAM1 IFNG IL10
7
Show member pathways
13.45 CCL11 CCL2 CXCL8 IL10 IL13 IL1B
8
Show member pathways
13.13 CCL2 CXCL8 IFNG IL10 IL1B IL6
9
Show member pathways
13.09 CCL11 CXCL8 ICAM1 IFNG IL10 IL13
10
Show member pathways
13 CCL2 CXCL8 ICAM1 IFNG IL13 IL1B
11 12.98 CXCL8 IFNG IL13 IL4 IL5 IL6
12
Show member pathways
12.87 CXCL8 IFNG IL10 IL13 IL1B IL4
13
Show member pathways
12.82 CXCL8 IFNG IL1B IL6 TNF
14 12.8 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
12.66 CXCL8 ICAM1 IL6 PTGS2 TNF
18
Show member pathways
12.66 IFNG IL10 IL13 IL1B IL4 IL5
19
Show member pathways
12.62 IFNG IL10 IL1B IL4 IL5 IL6
20
Show member pathways
12.52 CCL2 ICAM1 PTGS2 SELE VCAM1
21
Show member pathways
12.51 CCL2 CRP ICAM1 IFNG IL1B IL4
22
Show member pathways
12.48 CCL11 CCL2 CXCL8 IFNG IL13 IL1B
23
Show member pathways
12.45 CXCL8 IFNG IL1B IL6 PTGS2 TNF
24
Show member pathways
12.44 IFNG IL10 IL1B IL4 PTGS2 TNF
25
Show member pathways
12.41 CCL11 CXCL8 IFNG IL1B IL4 IL6
26
Show member pathways
12.4 IFNG IL10 IL1B IL6 TNF
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 12.36 CXCL8 IL10 IL13 IL1B IL6 TNF
31 12.32 CCL2 ICAM1 IFNG IL1B SELE TNF
32
Show member pathways
12.28 CCL11 CCL2 CXCL8 ICAM1 IFNG IL10
33 12.27 IFNG IL6 PTGS2 TNF
34 12.27 CCL11 CCL2 CXCL8 ICAM1 IL10 IL13
35 12.23 IFNG IL10 IL4 IL5 IL6 MPO
36 12.22 CCL2 ICAM1 IL1B IL6 PTGS2 SELE
37 12.19 CCL2 CXCL8 ICAM1 IFNG IL1B IL4
38 12.16 CCL2 CXCL8 ICAM1 IL1B IL6 SELE
39 12.13 CXCL8 IFNG IL10 IL1B IL6 TNF
40 12.11 CXCL8 ICAM1 IL1B PTGS2 TNF VCAM1
41 12.11 CCL2 CXCL8 ICAM1 IFNG IL1B IL6
42 12.08 IL1B IL4 IL5 IL6 TNF
43 12.06 CXCL8 IFNG IL1B IL6
44 12.05 IFNG IL10 IL13 IL1B IL4 IL5
45 12.05 CXCL8 ICAM1 IFNG IL13 IL4 IL5
46
Show member pathways
12 CXCL8 IFNG IL4 IL5 PTGS2 TNF
47 11.96 CXCL8 IFNG IL1B IL6
48 11.96 CXCL8 IL10 IL1B IL6 TNF
49 11.94 IFNG IL10 IL1B IL6 TNF
50 11.82 CCL11 IL10 IL4 IL5

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 67)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.98 IL10 MPO PTGS2 VCAM1
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.95 ICAM1 IL1B IL6 TNF
3 defense response to Gram-positive bacterium GO:0050830 9.92 CRP IL6 RNASE3 TNF
4 cellular response to tumor necrosis factor GO:0071356 9.92 CCL11 CCL2 CXCL8 ICAM1 VCAM1
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.91 IL6 PTGS2 TNF
6 cellular response to mechanical stimulus GO:0071260 9.91 IL13 IL1B PTGS2
7 cellular response to interleukin-1 GO:0071347 9.91 CCL11 CCL2 CXCL8 ICAM1
8 response to lipopolysaccharide GO:0032496 9.91 CXCL8 ICAM1 IL10 IL13 IL1B MPO
9 cellular response to organic cyclic compound GO:0071407 9.9 CCL2 IL1B TNF
10 chemokine-mediated signaling pathway GO:0070098 9.9 CCL11 CCL2 CXCL8
11 B cell differentiation GO:0030183 9.9 IL10 IL4 VCAM1
12 regulation of signaling receptor activity GO:0010469 9.9 CCL11 CCL2 CXCL8 IFNG IL10 IL13
13 interferon-gamma-mediated signaling pathway GO:0060333 9.89 ICAM1 IFNG VCAM1
14 regulation of insulin secretion GO:0050796 9.89 IFNG IL1B TNF
15 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.89 IFNG IL13 IL6
16 positive regulation of DNA binding transcription factor activity GO:0051091 9.89 IL10 IL1B IL5 IL6 TNF
17 neutrophil chemotaxis GO:0030593 9.88 CCL11 CCL2 CXCL8 IL1B
18 response to glucocorticoid GO:0051384 9.88 IL10 IL6 PTGS2 TNF
19 cellular response to lipopolysaccharide GO:0071222 9.88 CCL2 CXCL8 ICAM1 IL10 IL6 TNF
20 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.87 ICAM1