MCID: ATN013
MIFTS: 34

Autoinflammation, Panniculitis, and Dermatosis Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases, Immune 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 57 53 25 75 6
Otulipenia 57 12 53 25 59 75 15
Otulin-Related Autoinflammatory Syndrome 57 12 25 59 75
Aipds 57 53 25 75
Oras 57 25 59 75
Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome 59
Autoinflammation, Panniculitis and Dermatosis Syndrome 12
Otulin-Related Autoinflammatory Syndrome; Oras 57
Otulin Deficiency 59

Characteristics:

OMIM:

57
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:

32
autoinflammation, panniculitis, and dermatosis syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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, 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 dominant and astigmatism. 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 NF-kappaB Signaling and TNF signaling (REACTOME). Affiliated tissues include neutrophil, skin and bone, and related phenotypes are joint swelling and failure to thrive

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 : 25 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 : 75 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 55)
# Related Disease Score Top Affiliating Genes
1 vitreoretinochoroidopathy dominant 11.0
2 astigmatism 9.8
3 osteoarthritis 9.8
4 spinal stenosis 9.8
5 systemic onset juvenile idiopathic arthritis 9.8 MEFV TNF
6 erysipelas 9.7 MEFV TNF
7 relapsing fever 9.7 MEFV TNF
8 periodic fever, familial, autosomal dominant 9.7 MEFV TNF
9 blau syndrome 9.7 MEFV TNF
10 pyoderma gangrenosum 9.7 MEFV TNF
11 pyoderma 9.7 MEFV TNF
12 duane retraction syndrome 1 9.7
13 dowling-degos disease 1 9.7
14 retinal detachment 9.7
15 rheumatoid arthritis 9.7
16 glycogen storage disease ib 9.7
17 diarrhea 2, with microvillus atrophy 9.7
18 asthma 9.7
19 malignant atrophic papulosis 9.7
20 langerhans cell histiocytosis 9.7
21 arthritis 9.7
22 cataract 9.7
23 glycogen storage disease 9.7
24 hepatitis 9.7
25 keratoconus 9.7
26 atrial fibrillation 9.7
27 dowling-degos disease 9.7
28 ptosis 9.7
29 congenital ptosis 9.7
30 antisocial personality disorder 9.7
31 corneal edema 9.7
32 listeriosis 9.7
33 myopia 9.7
34 transient global amnesia 9.7
35 dementia 9.7
36 personality disorder 9.7
37 melanoma 9.7
38 histiocytosis 9.7
39 retinitis 9.7
40 leiomyomatosis 9.7
41 intravenous leiomyomatosis 9.7
42 back pain 9.7
43 adult-onset still's disease 9.7 MEFV TNF
44 aphthous stomatitis 9.7 MEFV TNF
45 palindromic rheumatism 9.6 MEFV TNF
46 pleurisy 9.6 MEFV TNF
47 pericarditis 9.6 MEFV TNF
48 brucellosis 9.6 MEFV TNF
49 primary bacterial infectious disease 9.6 MEFV TNF
50 familial mediterranean fever 9.5 MEFV TNF

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

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

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

Abdomen Gastrointestinal:
diarrhea (in some patients)

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)

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


Clinical features from OMIM:

617099

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 joint swelling 32 HP:0001386
2 failure to thrive 32 HP:0001508
3 leukocytosis 32 HP:0001974
4 diarrhea 32 occasional (7.5%) HP:0002014
5 vasculitis 32 occasional (7.5%) HP:0002633
6 lymphadenopathy 32 HP:0002716
7 arthralgia 32 HP:0002829
8 myalgia 32 HP:0003326
9 lipodystrophy 32 HP:0009125
10 neutrophilia 32 HP:0011897

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.8 MEFV OTULIN TNF

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:

41
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:

75
# 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:

# Super pathways Score Top Affiliating Genes
1 11.47 OTULIN TNF
2
Show member pathways
10.96 OTULIN TNF

GO Terms for Autoinflammation, Panniculitis, and Dermatosis Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.16 MEFV TNF
2 negative regulation of inflammatory response GO:0050728 8.96 MEFV OTULIN
3 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 8.62 OTULIN TNF

Sources for Autoinflammation, Panniculitis, and Dermatosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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