AIPDS
MCID: ATN013
MIFTS: 53

Autoinflammation, Panniculitis, and Dermatosis Syndrome (AIPDS)

Categories: Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

Name: Autoinflammation, Panniculitis, and Dermatosis Syndrome 57 19 42 73 38
Otulipenia 57 11 19 42 58 73 14
Otulin-Related Autoinflammatory Syndrome 57 11 42 58 73
Aipds 57 19 42 73
Oras 57 42 58 73
Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome 58 28 5
Autoinflammation, Panniculitis and Dermatosis Syndrome 11
Otulin Deficiency 58

Characteristics:


Inheritance:

Autoinflammation, Panniculitis, and Dermatosis Syndrome: Autosomal recessive 57
Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome: Autosomal recessive 58

Prevelance:

Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
patients may respond to treatment with tnf inhibitors or il1-beta antagonists
five patients from 3 families have been described (last curated august 2016)


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


Summaries for Autoinflammation, Panniculitis, and Dermatosis Syndrome

MedlinePlus Genetics: 42 Otulipenia is characterized by abnormal inflammation throughout the body. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, the uncontrolled inflammation that occurs in otulipenia can damage many of the body's tissues and organs, including the gastrointestinal system, joints, and skin. Disorders such as otulipenia that result from abnormally increased inflammation are known as autoinflammatory diseases.Signs and symptoms of otulipenia usually begin within the first few weeks of life, with recurring episodes of fever; diarrhea; painful, swollen joints; and skin rashes. The skin rashes are due to inflammation of the layer of fatty tissue under the skin (panniculitis), which causes painful red bumps. Some people with otulipenia have an abnormal distribution of fatty tissue in their bodies (lipodystrophy). Affected infants have difficulty growing and gaining weight at the expected rate (failure to thrive). Damage to the body's tissues and organs caused by inflammation is life-threatening if the condition is not treated.

MalaCards based summary: Autoinflammation, Panniculitis, and Dermatosis Syndrome, also known as otulipenia, is related to clear cell adenoma and polyglucosan body myopathy 1 with or without immunodeficiency. An important gene associated with Autoinflammation, Panniculitis, and Dermatosis Syndrome is OTULIN (OTU Deubiquitinase With Linear Linkage Specificity), and among its related pathways/superpathways are Innate Immune System and Signal Transduction. The drugs Diclofenac and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, skin and bone, and related phenotypes are failure to thrive in infancy and lipodystrophy

OMIM®: 57 Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP), leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016). (617099) (Updated 08-Dec-2022)

GARD: 19 Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).

Orphanet: 58 A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection.

Disease Ontology: 11 An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has material basis in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15.

UniProtKB/Swiss-Prot: 73 An autosomal recessive autoinflammatory disorder characterized by neonatal-onset of fever, neutrophilic dermatitis, panniculitis, painful joints, failure to thrive. Patients do not exhibit overt primary immunodeficiency.

Related Diseases for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 clear cell adenoma 10.2 SHARPIN RNF31
2 polyglucosan body myopathy 1 with or without immunodeficiency 10.2 RNF31 RBCK1
3 immunodeficiency 11 10.2 RNF31 RBCK1
4 panniculitis 10.1
5 autoinflammatory syndrome 10.1
6 immunodeficiency 33 10.1 OTULIN IKBKG
7 brooke-spiegler syndrome 10.1 OTULIN IKBKG CYLD
8 familial cold autoinflammatory syndrome 4 10.0 RBCK1 PSTPIP1 OTULIN
9 immune deficiency disease 10.0
10 immunodeficiency 107 invasive staphylococcus aureus infection 10.0
11 diarrhea 10.0
12 lymphoma, mucosa-associated lymphoid type 9.9 TNFAIP3 IKBKG CYLD
13 familial cold autoinflammatory syndrome 9.9 PSTPIP1 NOD2
14 incontinentia pigmenti 9.9 SHARPIN RNF31 RIPK1 RBCK1 IKBKG
15 autoimmune lymphoproliferative syndrome 9.9 TNFRSF1A TNFAIP3 RIPK1 IKBKG
16 salivary gland adenoid cystic carcinoma 9.8 IKBKG CYLD
17 sapho syndrome 9.8 PSTPIP1 NOD2
18 chronic recurrent multifocal osteomyelitis 9.7 PSTPIP1 NOD2
19 mevalonic aciduria 9.7 TNFRSF1A PSTPIP1 NOD2
20 muckle-wells syndrome 9.7 TNFRSF1A PSTPIP1 NOD2
21 cinca syndrome 9.7 TNFRSF1A PSTPIP1 NOD2
22 lymphoproliferative syndrome, x-linked, 2 9.7 RIPK2 NOD2
23 familial mediterranean fever 9.7 TNFRSF1A PSTPIP1 NOD2
24 immunodeficiency 57 with autoinflammation 9.6 ZNF7 RNF31 RIPK1 RBCK1 OTULIN
25 periodic fever, familial, autosomal dominant 9.6 TNFRSF1A PSTPIP1 OTULIN NOD2
26 blau syndrome 9.6 RIPK2 PSTPIP1 NOD2
27 behcet syndrome 9.3 TNFRSF1A TNFAIP3 PSTPIP1 OTULIN NOD2 IKBKG
28 familial behcet-like autoinflammatory syndrome 9.2 ZNF7 TNFRSF1A TNFAIP3 PSTPIP1 OTULIN IKBKG
29 inflammatory bowel disease 9.1 TNFRSF1A RIPK2 RIPK1 PSTPIP1 NOD2 CYLD
30 glycogen storage disease iv 8.3 TNFRSF1A TNFAIP3 SPATA2 SHARPIN RNF31 RIPK2

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



Diseases related to Autoinflammation, Panniculitis, and Dermatosis Syndrome

Symptoms & Phenotypes for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive in infancy 30 Very rare (1%) HP:0001531
2 lipodystrophy 30 Very rare (1%) HP:0009125
3 abdominal pain 30 Very rare (1%) HP:0002027
4 arthralgia 30 Very rare (1%) HP:0002829
5 myalgia 30 Very rare (1%) HP:0003326
6 joint swelling 30 Very rare (1%) HP:0001386
7 skin rash 30 Very rare (1%) HP:0000988
8 chronic diarrhea 30 Very rare (1%) HP:0002028
9 vasculitis 30 Very rare (1%) HP:0002633
10 lymphadenopathy 30 Very rare (1%) HP:0002716
11 leukocytosis 30 Very rare (1%) HP:0001974
12 recurrent fever 30 Very rare (1%) HP:0001954
13 panniculitis 30 Very rare (1%) HP:0012490
14 neutrophilia 30 Very rare (1%) HP:0011897
15 increased circulating iga level 30 Very rare (1%) HP:0003261
16 increased circulating igm level 30 Very rare (1%) HP:0003496
17 elevated circulating c-reactive protein concentration 30 Very rare (1%) HP:0011227
18 increased proportion of cd4-positive t cells 30 Very rare (1%) HP:0032219

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Skeletal:
joint swelling
arthralgias

Skin Nails Hair Skin:
pustular rash
erythematous rash
painful skin nodules

Abdomen Gastrointestinal:
diarrhea (in some patients)

Muscle Soft Tissue:
lipodystrophy
myalgia
lymphadenopathy
fat necrosis with septal distribution

Laboratory Abnormalities:
leukocytosis
neutrophilia
increased serum c-reactive protein (crp)

Skin Nails Hair Skin Histology:
neutrophilic dermatosis
neutrophil-rich panniculitis
vasculitis (in some patients)

Clinical features from OMIM®:

617099 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Autoinflammation, Panniculitis, 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 9.66 GZMM IKBKG RIPK1 TNFAIP3 TNFRSF1A
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.66 GZMM IKBKG NOD2 RIPK1 TNFAIP3 TNFRSF1A

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.02 CYLD IKBKG NOD2 OTULIN PSTPIP1 RIPK1
2 liver/biliary system MP:0005370 10.01 IKBKG IREB2 PSTPIP1 RBCK1 RIPK1 SHARPIN
3 cellular MP:0005384 10 CYLD IKBKG NGLY1 NOD2 OTULIN RBCK1
4 immune system MP:0005387 10 CYLD GZMM IKBKG IREB2 NOD2 OTULIN
5 digestive/alimentary MP:0005381 9.97 CYLD IKBKG IREB2 NOD2 RIPK1 RIPK2
6 hematopoietic system MP:0005397 9.8 CYLD IKBKG IREB2 NOD2 OTULIN PSTPIP1
7 integument MP:0010771 9.23 CYLD IKBKG IREB2 OTULIN RIPK1 SHARPIN

Drugs & Therapeutics for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved Early Phase 1 15307-86-5, 15307-79-6 3033
2 Analgesics Early Phase 1
3 Antirheumatic Agents Early Phase 1
4 Anti-Infective Agents Early Phase 1
5 Cyclooxygenase Inhibitors Early Phase 1
6 Anti-Inflammatory Agents, Non-Steroidal Early Phase 1
7 Bee Products Early Phase 1
8 Analgesics, Non-Narcotic Early Phase 1
9 Anti-Inflammatory Agents Early Phase 1
10 Propolis Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination of Diclofenac Potassium and Propolis in the Therapy of Oral Aphthosis Active, not recruiting NCT05413096 Early Phase 1

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

Genetic Tests for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

# Genetic test Affiliating Genes
1 Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome 28 OTULIN

Anatomical Context for Autoinflammation, Panniculitis, and Dermatosis Syndrome

Organs/tissues related to Autoinflammation, Panniculitis, and Dermatosis Syndrome:

MalaCards : Neutrophil, Skin, Bone, T Cells, Colon, Breast, Liver

Publications for Autoinflammation, Panniculitis, and Dermatosis Syndrome

Articles related to Autoinflammation, Panniculitis, and Dermatosis Syndrome:

(show top 50) (show all 71)
# Title Authors PMID Year
1
Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS. 62 57 5
35170849 2022
2
OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death. 62 57 5
30804083 2019
3
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. 62 57 5
27559085 2016
4
The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity. 62 57 5
27523608 2016
5
Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation. 57 5
30796585 2019
6
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin. 5
35587511 2022
7
Orexin Receptor Antagonists in the Treatment of Depression: A Leading Article Summarising Pre-clinical and Clinical Studies. 62
36436175 2022
8
Association of CYP2D6*4 Polymorphism with the Steady-State Concentration of Haloperidol in Patients with Alcohol-Induced Psychotic Disorders. 62
36339274 2022
9
Orexin Receptor Antagonists and Insomnia. 62
35972717 2022
10
Technique Articles Are More Effective at Increasing Social Media Attention in Comparison With Original Research Articles: An Altmetrics-Based Analysis. 62
35747624 2022
11
Screening of OTULIN gene mutation with targeted next generation sequencing in Turkish populations and in silico analysis of these mutations. 62
35294702 2022
12
A network meta-analysis of the long- and short-term efficacy of sleep medicines in adults and older adults. 62
34560134 2021
13
Deubiquitination of proteasome subunits by OTULIN regulates type I IFN production. 62
34797715 2021
14
Community pharmacists in Virginia dispensing naloxone under a standing order: A qualitative study. 62
34229945 2021
15
OTULIN maintains skin homeostasis by controlling keratinocyte death and stem cell identity. 62
34625556 2021
16
OTULIN inhibits RIPK1-mediated keratinocyte necroptosis to prevent skin inflammation in mice. 62
34625557 2021
17
A numerical study of strong-post double-faced W-beam and Thrie-beam guardrails under impacts of vehicles of multiple size classes. 62
34271322 2021
18
Are opioid receptor antagonists adequate for "Opioid" overdose in a changing reality? 62
33913179 2021
19
Overview of the rarest causes of fever in newborns: handy hints for the neonatologist. 62
32719496 2021
20
Clinical pharmacology, efficacy, and safety of orexin receptor antagonists for the treatment of insomnia disorders. 62
32901578 2020
21
Formation and fate of oil-related aggregates (ORAs) in seawater at different temperatures. 62
32892918 2020
22
Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A). 62
32721894 2020
23
OTULIN protects the liver against cell death, inflammation, fibrosis, and cancer. 62
32231246 2020
24
New data in causes of autoinflammatory diseases. 62
30471422 2019
25
TNF receptor signalling in autoinflammatory diseases. 62
30838383 2019
26
Longer Residence of Ecuadorian and Colombian Migrant Workers in Spain Associated with New Episodes of Common Mental Disorders. 62
31174399 2019
27
Zebrafish olfactory receptors ORAs differentially detect bile acids and bile salts. 62
30833327 2019
28
Petroleum hydrocarbon and microbial community structure successions in marine oil-related aggregates associated with diatoms relevant for Arctic conditions. 62
30301095 2018
29
Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review. 62
28578473 2018
30
Vasculitis in Systemic Autoinflammatory Diseases. 62
30560109 2018
31
Lessons from characterization and treatment of the autoinflammatory syndromes. 62
27906774 2017
32
OTULIN deficiency causes auto-inflammatory syndrome. 62
27686184 2016
33
Pharmacological evaluation of orexin receptor antagonists in preclinical animal models of pain. 62
27276194 2016
34
Longitudinal associations with changes in outdoor recreation area use for physical activity during a community-based intervention. 62
26096192 2015
35
The metabolomics of asthma control: a promising link between genetics and disease. 62
26421150 2015
36
Cyclo-oxygenase (COX) inhibitors for treating preterm labour. 62
26042617 2015
37
The effect of corneal irregularity on astigmatism measurement by automated versus ray tracing keratometry. 62
25837759 2015
38
Comparison between treadmill training with rhythmic auditory stimulation and ground walking with rhythmic auditory stimulation on gait ability in chronic stroke patients: A pilot study. 62
26484511 2015
39
Predicting outdoor recreation area use in a Southeastern US county: a signal detection analysis. 62
24627153 2014
40
Fungal type III polyketide synthases. 62
25182423 2014
41
Calcium channel blockers for inhibiting preterm labour and birth. 62
24901312 2014
42
Genomic organization and evolution of the trace amine-associated receptor (TAAR) repertoire in Atlantic salmon (Salmo salar). 62
24760389 2014
43
Feasibility of using nonflat photon beams for whole-breast irradiation with breath hold. 62
24423835 2014
44
Religiosity as a protective factor in suicidal behavior: a case-control study. 62
23037509 2012
45
Daily intake of inorganic arsenic and some organic arsenic species of Japanese subjects. 62
22617717 2012
46
New contributions to the ORP & DO time profile characterization to improve biological nutrient removal. 62
22483572 2012
47
Malaria in selected non-Amazonian countries of Latin America. 62
21741349 2012
48
Sequence conservation among orthologous vomeronasal type 1 receptor-like (ora) genes does not support the differential tuning hypothesis in Salmonidae. 62
21712081 2011
49
Health technopole: innovation applied to clinical engineering & health technology management education. 62
21096296 2010
50
The effect of kappa-opioid receptor agonists on tetrodotoxin-resistant sodium channels in primary sensory neurons. 62
19608841 2009

Variations for Autoinflammation, Panniculitis, and Dermatosis Syndrome

ClinVar genetic disease variations for Autoinflammation, Panniculitis, and Dermatosis Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OTULIN NM_138348.6(OTULIN):c.731A>G (p.Tyr244Cys) SNV Pathogenic
254126 rs886037887 GRCh37: 5:14690284-14690284
GRCh38: 5:14690175-14690175
2 OTULIN NM_138348.6(OTULIN):c.517del (p.Gly174fs) DEL Pathogenic
254125 rs886037886 GRCh37: 5:14687678-14687678
GRCh38: 5:14687569-14687569
3 OTULIN NM_138348.6(OTULIN):c.864+2T>C SNV Pathogenic
1706581 GRCh37: 5:14690419-14690419
GRCh38: 5:14690310-14690310
4 OTULIN NM_138348.6(OTULIN):c.841G>A (p.Gly281Arg) SNV Pathogenic
1706582 GRCh37: 5:14690394-14690394
GRCh38: 5:14690285-14690285
5 OTULIN NM_138348.6(OTULIN):c.258G>A (p.Met86Ile) SNV Pathogenic
1706583 GRCh37: 5:14678818-14678818
GRCh38: 5:14678709-14678709
6 OTULIN NM_138348.6(OTULIN):c.500G>C (p.Trp167Ser) SNV Pathogenic
1706584 GRCh37: 5:14687661-14687661
GRCh38: 5:14687552-14687552
7 OTULIN NM_138348.6(OTULIN):c.815T>C (p.Leu272Pro) SNV Pathogenic
254124 rs886037885 GRCh37: 5:14690368-14690368
GRCh38: 5:14690259-14690259
8 OTULIN NM_138348.6(OTULIN):c.553G>T (p.Val185Phe) SNV Uncertain Significance
1027709 rs867617260 GRCh37: 5:14687714-14687714
GRCh38: 5:14687605-14687605
9 OTULIN NM_138348.6(OTULIN):c.469-10G>C SNV Uncertain Significance
1602085 GRCh37: 5:14687620-14687620
GRCh38: 5:14687511-14687511

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

73
# Symbol AA change Variation ID SNP ID
1 OTULIN p.Tyr244Cys VAR_076865 rs886037887
2 OTULIN p.Leu272Pro VAR_076866 rs886037885

Expression for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

Pathways for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 CYLD GZMM IKBKG NOD2 PSTPIP1 RBCK1
2 13.56 TNFRSF1A TNFAIP3 SPATA2 SHARPIN RNF31 RIPK2
3
Show member pathways
12.66 CYLD IKBKG RBCK1 RIPK1 RNF31 TNFAIP3
4
Show member pathways
12.62 TNFAIP3 RIPK2 RIPK1 NOD2 IKBKG CYLD
5
Show member pathways
12.54 TNFRSF1A TNFAIP3 RIPK1 IKBKG
6
Show member pathways
12.5 TNFRSF1A TNFAIP3 RIPK1 IKBKG
7
Show member pathways
12.46 TNFRSF1A TNFAIP3 RIPK1 IKBKG
8
Show member pathways
12.45 TNFRSF1A TNFAIP3 SPATA2 SHARPIN RNF31 RIPK2
9
Show member pathways
12.37 RIPK2 RIPK1 NOD2 IKBKG
10 12.37 CYLD IKBKG OTULIN RIPK1 RIPK2 SHARPIN
11
Show member pathways
12.32 TNFAIP3 RIPK1 IKBKG CYLD
12
Show member pathways
12.2 TNFRSF1A TNFAIP3 RIPK2 RIPK1
13
Show member pathways
12.17 TNFRSF1A RIPK2 RIPK1 IKBKG
14
Show member pathways
11.98 RIPK2 NOD2 IKBKG
15
Show member pathways
11.77 TNFAIP3 RIPK2 PSTPIP1 NOD2 IKBKG CYLD
16
Show member pathways
11.66 RNF31 OTULIN CYLD
17
Show member pathways
11.63 TNFRSF1A TNFAIP3 SPATA2 SHARPIN RNF31 RIPK1
18
Show member pathways
11.6 TNFRSF1A RIPK1 IKBKG
19 11.45 TNFRSF1A RIPK2 RIPK1
20 11.43 TNFRSF1A RIPK2 IKBKG
21 11.36 TNFAIP3 RIPK2 RIPK1 NOD2 IKBKG
22
Show member pathways
11.34 RIPK2 NOD2 IKBKG
23 11.27 RIPK2 NOD2 IKBKG
24 11.01 TNFRSF1A TNFAIP3 RIPK2 NOD2 IKBKG CYLD
25 10.68 TNFRSF1A RIPK1

GO Terms for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 LUBAC complex GO:0071797 9.23 SHARPIN RNF31 RBCK1 OTULIN

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 10.37 TNFRSF1A TNFAIP3 RIPK2 RIPK1 IKBKG GZMM
2 innate immune response GO:0045087 10.36 CYLD GZMM IKBKG NOD2 OTULIN PSTPIP1
3 inflammatory response GO:0006954 10.31 TNFRSF1A TNFAIP3 RIPK2 RIPK1 PSTPIP1 IKBKG
4 defense response to bacterium GO:0042742 10.26 TNFRSF1A SHARPIN RNF31 RBCK1 NOD2
5 negative regulation of inflammatory response GO:0050728 10.16 CYLD OTULIN SHARPIN TNFAIP3 TNFRSF1A
6 T cell receptor signaling pathway GO:0050852 10.15 IKBKG RBCK1 RIPK2 RNF31
7 positive regulation of NF-kappaB transcription factor activity GO:0051092 10.1 IKBKG NOD2 RBCK1 RIPK1 RIPK2 RNF31
8 I-kappaB kinase/NF-kappaB signaling GO:0007249 10.09 IKBKG NOD2 RIPK2
9 negative regulation of NF-kappaB transcription factor activity GO:0032088 10.07 TNFAIP3 RBCK1 OTULIN NOD2 CYLD
10 immune system process GO:0002376 10.05 CYLD GZMM NOD2 OTULIN PSTPIP1 RIPK2
11 protein K63-linked deubiquitination GO:0070536 10.04 TNFAIP3 SPATA2 CYLD
12 positive regulation of extrinsic apoptotic signaling pathway GO:2001238 10 RIPK1 RBCK1 CYLD
13 negative regulation of necroptotic process GO:0060546 9.97 RNF31 RIPK1 RBCK1
14 necroptotic process GO:0070266 9.95 SPATA2 RIPK1 CYLD
15 response to muramyl dipeptide GO:0032495 9.94 TNFAIP3 NOD2
16 xenophagy GO:0098792 9.93 RIPK2 NOD2
17 cellular response to muramyl dipeptide GO:0071225 9.92 RIPK2 NOD2
18 regulation of necroptotic process GO:0060544 9.91 SPATA2 CYLD
19 negative regulation of toll-like receptor 2 signaling pathway GO:0034136 9.91 TNFAIP3 NOD2
20 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.91 RIPK2 OTULIN NOD2
21 cellular response to peptidoglycan GO:0071224 9.9 RIPK2 NOD2
22 toll-like receptor 2 signaling pathway GO:0034134 9.89 RIPK2 NOD2
23 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.88 TNFAIP3 CYLD
24 positive regulation of xenophagy GO:1904417 9.88 RNF31 RIPK2 NOD2
25 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.86 IKBKG NOD2 RBCK1 RIPK1 RIPK2 RNF31
26 protein linear polyubiquitination GO:0097039 9.73 SHARPIN RNF31 RBCK1
27 protein linear deubiquitination GO:1990108 9.63 SPATA2 OTULIN CYLD
28 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.4 TNFRSF1A TNFAIP3 SPATA2 SHARPIN OTULIN CYLD

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

# Name GO ID Score Top Affiliating Genes
1 K63-linked deubiquitinase activity GO:0061578 9.62 TNFAIP3 CYLD
2 JUN kinase kinase kinase activity GO:0004706 9.56 RIPK2 RIPK1
3 linear polyubiquitin binding GO:1990450 9.46 RNF31 IKBKG
4 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.43 TNFAIP3 RNF31 IKBKG
5 ubiquitin binding GO:0043130 9.28 TNFAIP3 SHARPIN RNF31 RBCK1 OTULINL

Sources for Autoinflammation, Panniculitis, and Dermatosis Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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