AIPDS
MCID: ATN013
MIFTS: 46

Autoinflammation, Panniculitis, and Dermatosis Syndrome (AIPDS)

Categories: Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

Name: Autoinflammation, Panniculitis, and Dermatosis Syndrome 58 54 26 76 6
Otulipenia 58 12 54 26 60 76 15
Otulin-Related Autoinflammatory Syndrome 58 12 26 60 76
Aipds 58 54 26 76
Oras 58 26 60 76
Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome 60
Autoinflammation, Panniculitis and Dermatosis Syndrome 12
Otulin-Related Autoinflammatory Syndrome; Oras 58
Otulin Deficiency 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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)


HPO:

33
autoinflammation, panniculitis, and dermatosis syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Autoinflammation, Panniculitis, and Dermatosis Syndrome

OMIM : 58 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). (617099)

MalaCards based summary : Autoinflammation, Panniculitis, and Dermatosis Syndrome, also known as otulipenia, is related to vitreoretinochoroidopathy and vitreous detachment. 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 Human cytomegalovirus infection. Affiliated tissues include neutrophil, skin and bone, and related phenotypes are diarrhea and vasculitis

Disease Ontology : 12 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.

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 Autoinflammation, panniculitis, and dermatosis syndrome: 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 top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 vitreoretinochoroidopathy 11.1
2 vitreous detachment 11.1
3 pyoderma 10.2 MEFV TNF
4 systemic onset juvenile idiopathic arthritis 10.2 MEFV TNF
5 juvenile ankylosing spondylitis 10.1 MEFV TNF
6 erysipelas 10.1 MEFV TNF
7 inflammatory myopathy with abundant macrophages 10.1 MEFV TNFRSF1A
8 intermittent hydrarthrosis 10.1 MEFV TNFRSF1A
9 idiopathic recurrent pericarditis 10.1 MEFV TNFRSF1A
10 hypersensitivity reaction type iii disease 10.1 MEFV TNF
11 inflammatory bowel disease 3 10.0 RELA TNF
12 astigmatism 10.0
13 osteoarthritis 10.0
14 spinal stenosis 10.0
15 myopia 10.0
16 pleurisy 10.0 MEFV TNF
17 autoimmune myocarditis 10.0 TNF TNFRSF1A
18 chronic gonococcal salpingitis 10.0 TNF TNFRSF1A
19 retinitis pigmentosa 75 10.0 TNF TNFRSF1A
20 psoriatic juvenile idiopathic arthritis 10.0 MEFV NLRP3
21 dystrophinopathies 10.0 TNF TNFRSF1A
22 cervical adenitis 10.0 MEFV NLRP3
23 acute salpingitis 10.0 TNF TNFRSF1A
24 erysipeloid 10.0 MEFV NLRP3
25 spondylarthropathy 10.0 TNF TNFRSF1A
26 post-transplant lymphoproliferative disease 9.9 TNF TNFRSF1A
27 chronic salpingitis 9.9 TNF TNFRSF1A
28 brucellosis 9.9 MEFV TNF
29 amyloidosis, familial visceral 9.9 MEFV TNFRSF1A
30 cinca syndrome 9.9 MEFV NLRP3
31 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 9.9 NLRP3 TMEM173
32 vulvar vestibulitis syndrome 9.9 NLRP3 TNF
33 duane retraction syndrome 1 9.9
34 pernicious anemia 9.9
35 dowling-degos disease 1 9.9
36 retinal detachment 9.9
37 rheumatoid arthritis 9.9
38 glycogen storage disease ib 9.9
39 diarrhea 2, with microvillus atrophy 9.9
40 asthma 9.9
41 malignant atrophic papulosis 9.9
42 langerhans cell histiocytosis 9.9
43 arthritis 9.9
44 cataract 9.9
45 glycogen storage disease 9.9
46 hepatitis 9.9
47 keratoconus 9.9
48 atrial fibrillation 9.9
49 dowling-degos disease 9.9
50 ptosis 9.9

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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 diarrhea 33 occasional (7.5%) HP:0002014
2 vasculitis 33 occasional (7.5%) HP:0002633
3 failure to thrive 33 HP:0001508
4 joint swelling 33 HP:0001386
5 arthralgia 33 HP:0002829
6 lipodystrophy 33 HP:0009125
7 myalgia 33 HP:0003326
8 leukocytosis 33 HP:0001974
9 lymphadenopathy 33 HP:0002716
10 panniculitis 33 HP:0012490
11 neutrophilia 33 HP:0011897

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

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

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

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

Skeletal:
joint swelling
arthralgias

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

Abdomen Gastrointestinal:
diarrhea (in some patients)

Clinical features from OMIM:

617099

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.62 NLRP3 RIPK1 TNF TNFAIP3 TNFRSF1A
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 NLRP3 RIPK1 TNF TNFAIP3 TNFRSF1A

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.08 MEFV NLRP3 OTULIN RELA RIPK1 TNF
2 hematopoietic system MP:0005397 10.06 MEFV NLRP3 OTULIN RELA RIPK1 TMEM173
3 growth/size/body region MP:0005378 10.03 MEFV NLRP3 OTULIN RELA RIPK1 TNF
4 homeostasis/metabolism MP:0005376 9.97 MEFV NLRP3 RELA RIPK1 TMEM173 TNF
5 digestive/alimentary MP:0005381 9.93 NLRP3 RELA RIPK1 TNF TNFAIP3 TNFRSF1A
6 immune system MP:0005387 9.92 MEFV NLRP3 RELA RIPK1 TMEM173 TNF
7 integument MP:0010771 9.8 MEFV NLRP3 RELA RIPK1 TNF TNFAIP3
8 liver/biliary system MP:0005370 9.7 MEFV NLRP3 RELA RIPK1 TNF TNFAIP3
9 mortality/aging MP:0010768 9.61 MEFV NLRP3 OTULIN RELA RIPK1 TMEM173
10 skeleton MP:0005390 9.17 MEFV NLRP3 OTULIN RELA TNF TNFAIP3

Drugs & Therapeutics for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

Genetic Tests for Autoinflammation, Panniculitis, and Dermatosis Syndrome

Anatomical Context for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

42
Neutrophil, Skin, Bone

Publications for Autoinflammation, Panniculitis, and Dermatosis Syndrome

Variations for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 OTULIN p.Tyr244Cys VAR_076865 rs886037887
2 OTULIN p.Leu272Pro VAR_076866 rs886037885

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OTULIN NM_138348.5(OTULIN): c.815T> C (p.Leu272Pro) single nucleotide variant Pathogenic rs886037885 GRCh37 Chromosome 5, 14690368: 14690368
2 OTULIN NM_138348.5(OTULIN): c.815T> C (p.Leu272Pro) single nucleotide variant Pathogenic rs886037885 GRCh38 Chromosome 5, 14690259: 14690259
3 OTULIN NM_138348.5(OTULIN): c.517delC (p.Gly174Aspfs) deletion Pathogenic rs886037886 GRCh38 Chromosome 5, 14687569: 14687569
4 OTULIN NM_138348.5(OTULIN): c.517delC (p.Gly174Aspfs) deletion Pathogenic rs886037886 GRCh37 Chromosome 5, 14687678: 14687678
5 OTULIN NM_138348.5(OTULIN): c.731A> G (p.Tyr244Cys) single nucleotide variant Pathogenic rs886037887 GRCh38 Chromosome 5, 14690175: 14690175
6 OTULIN NM_138348.5(OTULIN): c.731A> G (p.Tyr244Cys) single nucleotide variant Pathogenic rs886037887 GRCh37 Chromosome 5, 14690284: 14690284

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 top 50) (show all 53)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 MEFV NLRP3 RELA RIPK1 TMEM173 TNF
2
Show member pathways
12.83 RELA RIPK1 TMEM173 TNF TNFRSF1A
3
Show member pathways
12.82 RELA RIPK1 TNF TNFAIP3 TNFRSF1A
4
Show member pathways
12.67 RELA RIPK1 TNF TNFRSF1A
5
Show member pathways
12.6 RELA RIPK1 TMEM173 TNF TNFAIP3
6
Show member pathways
12.51 RELA RIPK1 TNF TNFAIP3 TNFRSF1A
7
Show member pathways
12.51 RELA RIPK1 TNF TNFAIP3 TNFRSF1A
8
Show member pathways
12.49 RIPK1 TNF TNFAIP3 TNFRSF1A
9
Show member pathways
12.43 NLRP3 RELA TNF TNFAIP3 TNFRSF1A
10 12.4 OTULIN RELA RIPK1 TNF TNFAIP3 TNFRSF1A
11
Show member pathways
12.35 RIPK1 TNF TNFRSF1A
12
Show member pathways
12.29 RELA RIPK1 TMEM173
13
Show member pathways
12.25 MEFV NLRP3 RELA RIPK1 TMEM173 TNF
14 12.22 RELA TNF TNFRSF1A
15
Show member pathways
12.2 RELA TNF TNFAIP3
16
Show member pathways
12.14 RELA RIPK1 TNF
17 12.14 RIPK1 TNF TNFAIP3 TNFRSF1A
18
Show member pathways
12.13 RIPK1 TNF TNFRSF1A
19
Show member pathways
12.13 RELA TNF TNFRSF1A
20 12.1 RELA TNF TNFRSF1A
21
Show member pathways
12.09 NLRP3 RELA TNF
22
Show member pathways
12.09 NLRP3 RIPK1 TNF TNFAIP3 TNFRSF1A
23
Show member pathways
12.01 RIPK1 TNF TNFAIP3 TNFRSF1A
24 11.98 RELA TNF TNFRSF1A
25
Show member pathways
11.97 OTULIN RELA RIPK1 TNF TNFAIP3 TNFRSF1A
26 11.95 RELA TNF TNFRSF1A
27
Show member pathways
11.92 RIPK1 TNF TNFRSF1A
28 11.9 RELA TNF TNFRSF1A
29
Show member pathways
11.88 MEFV NLRP3 TNFAIP3
30
Show member pathways
11.86 RELA TNF TNFRSF1A
31 11.81 RELA RIPK1 TNF TNFAIP3 TNFRSF1A
32 11.7 RELA RIPK1 TNF TNFAIP3 TNFRSF1A
33 11.68 NLRP3 RELA TNF
34
Show member pathways
11.64 RELA RIPK1 TNF TNFRSF1A
35 11.63 RELA TNF TNFRSF1A
36 11.61 RELA TNF TNFRSF1A
37
Show member pathways
11.58 RELA TNF TNFRSF1A
38 11.51 RELA RIPK1 TNFRSF1A
39 11.5 RELA TNF TNFRSF1A
40
Show member pathways
11.46 RELA TNF TNFRSF1A
41 11.42 TNF TNFRSF1A
42 11.4 TNF TNFRSF1A
43 11.39 RELA TNF
44 11.38 RELA RIPK1 TNF TNFRSF1A
45 11.36 MEFV NLRP3 RELA
46 11.35 TNF TNFRSF1A
47 11.27 RIPK1 TNFAIP3
48 11.21 TNF TNFAIP3 TNFRSF1A
49 11.21 RELA RIPK1 TNF TNFAIP3 TNFRSF1A
50 11.18 RELA TNF

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 membrane raft GO:0045121 8.8 RIPK1 TNF TNFRSF1A

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 NLRP3 RELA RIPK1 TMEM173 TNF TNFRSF1A
2 immune system process GO:0002376 9.94 MEFV NLRP3 OTULIN TMEM173
3 innate immune response GO:0045087 9.93 MEFV NLRP3 OTULIN TMEM173
4 viral process GO:0016032 9.92 RELA RIPK1 TMEM173 TNFRSF1A
5 apoptotic process GO:0006915 9.91 NLRP3 RIPK1 TMEM173 TNFAIP3 TNFRSF1A
6 cytokine-mediated signaling pathway GO:0019221 9.87 RELA TNF TNFRSF1A
7 protein deubiquitination GO:0016579 9.85 NLRP3 RIPK1 TNFAIP3
8 defense response to virus GO:0051607 9.81 NLRP3 RELA TMEM173
9 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.78 RELA RIPK1 TNF TNFRSF1A
10 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.76 NLRP3 RIPK1 TNF
11 cellular response to lipopolysaccharide GO:0071222 9.76 NLRP3 RELA TNF TNFAIP3
12 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.73 NLRP3 OTULIN TNFAIP3
13 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.73 NLRP3 RELA RIPK1 TNF
14 defense response GO:0006952 9.71 NLRP3 RELA TNF TNFRSF1A
15 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.7 RELA TNF
16 regulation of inflammatory response GO:0050727 9.7 NLRP3 RELA TNF
17 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.69 TNF TNFRSF1A
18 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.69 NLRP3 TNF
19 extrinsic apoptotic signaling pathway GO:0097191 9.68 RIPK1 TNF
20 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0043124 9.68 RIPK1 TNFAIP3
21 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.68 RELA RIPK1
22 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.67 RIPK1 TNF
23 positive regulation of type I interferon production GO:0032481 9.67 RELA TMEM173
24 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.67 RIPK1 TNFAIP3
25 tumor necrosis factor-mediated signaling pathway GO:0033209 9.67 RELA RIPK1 TNF TNFRSF1A
26 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.66 TNF TNFRSF1A
27 negative regulation of interleukin-6 production GO:0032715 9.66 TNF TNFAIP3
28 positive regulation of interleukin-8 production GO:0032757 9.65 RIPK1 TNF
29 negative regulation of NIK/NF-kappaB signaling GO:1901223 9.65 NLRP3 RELA
30 regulation of reactive oxygen species metabolic process GO:2000377 9.65 RIPK1 TNF
31 negative regulation of interleukin-1 beta secretion GO:0050713 9.63 NLRP3 TNFAIP3
32 inflammatory response GO:0006954 9.63 MEFV NLRP3 RELA TNF TNFAIP3 TNFRSF1A
33 response to muramyl dipeptide GO:0032495 9.62 RELA TNFAIP3
34 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.62 RELA RIPK1 TNF TNFRSF1A
35 negative regulation of interleukin-1 beta production GO:0032691 9.61 MEFV TNFAIP3
36 positive regulation of ceramide biosynthetic process GO:2000304 9.61 TNF TNFRSF1A
37 positive regulation of programmed cell death GO:0043068 9.6 RIPK1 TNF
38 cellular response to nicotine GO:0071316 9.59 RELA TNF
39 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.58 OTULIN RELA
40 regulation of establishment of endothelial barrier GO:1903140 9.57 TNF TNFRSF1A
41 cellular response to peptidoglycan GO:0071224 9.55 NLRP3 RELA
42 necroptotic signaling pathway GO:0097527 9.54 RIPK1 TNF
43 death-inducing signaling complex assembly GO:0071550 9.43 RIPK1 TNF TNFRSF1A
44 negative regulation of inflammatory response GO:0050728 9.35 MEFV NLRP3 OTULIN TNFAIP3 TNFRSF1A
45 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.02 OTULIN RIPK1 TNF TNFAIP3 TNFRSF1A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.81 MEFV NLRP3 OTULIN RELA RIPK1 TMEM173
2 identical protein binding GO:0042802 9.17 MEFV NLRP3 RELA RIPK1 TMEM173 TNF
3 ubiquitin protein ligase binding GO:0031625 9.13 RELA RIPK1 TMEM173

Sources for Autoinflammation, Panniculitis, and Dermatosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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