OMPP
MCID: OST167
MIFTS: 42

Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis (OMPP)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Osteomyelitis, Sterile Multifocal, with Periostitis and...

MalaCards integrated aliases for Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis:

Name: Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 57 29 6 39
Interleukin 1 Receptor Antagonist Deficiency 57 20 72 36 13 70
Dira 57 20 58 72
Autoinflammatory Disease Due to Interleukin-1 Receptor Antagonist Deficiency 58 72
Ompp 57 58
Sterile Multifocal Osteomyelitis with Periostitis and Pustulosis 58
Interleukin 1 Receptor Antagonist Deficiency; Dira 57
Deficiency of Interleukin-1 Receptor Antagonist 20
Interleukin-1 Receptor Antagonist Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
sterile multifocal osteomyelitis with periostitis and pustulosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
fatal multiorgan failure due to severe inflammatory response in some patients


HPO:

31
osteomyelitis, sterile multifocal, with periostitis and pustulosis:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Osteomyelitis, Sterile Multifocal, with Periostitis and...

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 210115 Definition Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.

MalaCards based summary : Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis, also known as interleukin 1 receptor antagonist deficiency, is related to periostitis and chronic recurrent multifocal osteomyelitis, and has symptoms including arthralgia and interphalangeal joint swelling. An important gene associated with Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis is IL1RN (Interleukin 1 Receptor Antagonist), and among its related pathways/superpathways are Toll-Like receptor Signaling Pathways and NF-kappaB Signaling. The drugs Rilonacept and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include t cells, lung and neutrophil, and related phenotypes are osteopenia and broad ribs

KEGG : 36 Interleukin 1 receptor antagonist deficiency (DIRA) is a rare autosomal recessive autoinflammatory disease caused by mutations in IL1RN. The absence of interleukin 1 receptor (IL-1R) antagonist allows unopposed action of IL-1, resulting in life threatening systemic inflammation with skin and bone involvement.

UniProtKB/Swiss-Prot : 72 Interleukin 1 receptor antagonist deficiency: A rare autoinflammatory disease of skin and bone resulting in sterile multifocal osteomyelitis, periostitis, and pustulosis from birth. The term autoinflammatory disease describes a group of disorders characterized by attacks of seemingly unprovoked inflammation without significant levels of autoantibodies and autoreactive T-cells.

Wikipedia : 73 Deficiency of the interleukin-1-receptor antagonist (DIRA) is an autosomal recessive, genetic... more...

More information from OMIM: 612852

Related Diseases for Osteomyelitis, Sterile Multifocal, with Periostitis and...

Graphical network of the top 20 diseases related to Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis:



Diseases related to Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis

Symptoms & Phenotypes for Osteomyelitis, Sterile Multifocal, with Periostitis and...

Human phenotypes related to Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 very rare (1%) HP:0000938
2 broad ribs 31 very rare (1%) HP:0000885
3 hyperkeratosis 31 very rare (1%) HP:0000962
4 failure to thrive in infancy 31 very rare (1%) HP:0001531
5 pulmonary fibrosis 31 very rare (1%) HP:0002206
6 motor delay 31 very rare (1%) HP:0001270
7 joint swelling 31 very rare (1%) HP:0001386
8 skin rash 31 very rare (1%) HP:0000988
9 osteomyelitis 31 very rare (1%) HP:0002754
10 fetal distress 31 very rare (1%) HP:0025116
11 osteolysis 31 very rare (1%) HP:0002797
12 fused cervical vertebrae 31 very rare (1%) HP:0002949
13 elevated c-reactive protein level 31 very rare (1%) HP:0011227
14 elevated erythrocyte sedimentation rate 31 very rare (1%) HP:0003565
15 pustule 31 very rare (1%) HP:0200039
16 abscess 31 very rare (1%) HP:0025615
17 neutrophilia 31 very rare (1%) HP:0011897
18 epidermal acanthosis 31 very rare (1%) HP:0025092
19 flaring of rib cage 31 very rare (1%) HP:0000904
20 splenomegaly 31 HP:0001744
21 hepatomegaly 31 HP:0002240
22 arthralgia 31 HP:0002829
23 respiratory distress 31 HP:0002098
24 stomatitis 31 HP:0010280
25 periostitis 31 HP:0040165

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin Histology:
hyperkeratosis
acanthosis
neutrophil infiltration of dermis and epidermis
pustule formation along hair follicles

Prenatal Manifestations Delivery:
fetal distress

Skeletal Hands:
interphalangeal joint swelling

Respiratory Lung:
respiratory distress (in some patients)
interstitial lung disease (rare)

Skeletal Spine:
cervical vertebral fusion (in some patients)

Skin Nails Hair Nails:
psoriatic nail changes (in some patients)
onychomedesis - shedding of the nail (in some patients)

Laboratory Abnormalities:
marked elevation of erythrocyte sedimentation rate
marked elevation of serum c-reactive protein level (crp )

Abdomen Liver:
hepatomegaly

Skeletal Limbs:
joint swelling
joint pain

Head And Neck Mouth:
stomatitis
mouth ulcers

Skeletal:
periosteal cloaking
periosteal elevation
osteolysis, multifocal sterile

Chest Ribs Sternum Clavicles And Scapulae:
widening of anterior rib ends

Skin Nails Hair Skin:
pustulosis or pustular psoriasis, generalized

Neurologic Central Nervous System:
cerebral vasculitis or vasculopathy (rare)

Clinical features from OMIM®:

612852 (Updated 05-Apr-2021)

UMLS symptoms related to Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis:


arthralgia; interphalangeal joint swelling

GenomeRNAi Phenotypes related to Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.4 NFKBIA
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.4 IL1RN
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.4 NFKBIA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.4 NFKBIA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.4 IL1RN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.4 IL1RN
7 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.4 NFKBIA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.4 NFKBIA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.4 IL1RN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.4 NFKBIA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.4 NFKBIA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.4 NFKBIA

Drugs & Therapeutics for Osteomyelitis, Sterile Multifocal, with Periostitis and...

Drugs for Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rilonacept Approved, Investigational Phase 2 501081-76-1 104924
2 Anti-Inflammatory Agents Phase 2
3 Interleukin 1 Receptor Antagonist Protein Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Open-Label Study of Rilonacept (Arcalyst) in the Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) Completed NCT01801449 Phase 2 Rilonacept
2 Studies of the 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

Search NIH Clinical Center for Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis

Genetic Tests for Osteomyelitis, Sterile Multifocal, with Periostitis and...

Genetic tests related to Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis:

# Genetic test Affiliating Genes
1 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 29 IL1RN

Anatomical Context for Osteomyelitis, Sterile Multifocal, with Periostitis and...

MalaCards organs/tissues related to Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis:

40
T Cells, Lung, Neutrophil

Publications for Osteomyelitis, Sterile Multifocal, with Periostitis and...

Articles related to Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis:

# Title Authors PMID Year
1
An autoinflammatory disease due to homozygous deletion of the IL1RN locus. 6 57
19494219 2009
2
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. 6 57
19494218 2009
3
A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil. 6
22127713 2011
4
Infantile generalized pustular psoriasis associated with lytic lesions of the bone. 57
8415308 1993
5
Dermatoses associated with sterile lytic bone lesions. 57
2212151 1990
6
Infantile cortical hyperostosis with intramedullary lesions. 57
3889053 1985
7
Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report. 61
26100510 2015
8
Autoinflammatory pustular neutrophilic diseases. 61
23827244 2013
9
Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis. 61
22431714 2012

Variations for Osteomyelitis, Sterile Multifocal, with Periostitis and...

ClinVar genetic disease variations for Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis:

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL1RN IL1RN, 2-BP DEL, 156CA Deletion Pathogenic 14677 GRCh37:
GRCh38:
2 IL1RN NC_000002.12:g.(?_113116893)_(113135016_?)del Deletion Pathogenic 832163 GRCh37: 2:113874470-113892593
GRCh38:
3 IL1RN NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter) SNV Pathogenic 14675 rs121913161 GRCh37: 2:113888645-113888645
GRCh38: 2:113131068-113131068
4 IL1RN NM_173842.3(IL1RN):c.160C>T (p.Gln54Ter) SNV Pathogenic 14676 rs121913162 GRCh37: 2:113887196-113887196
GRCh38: 2:113129619-113129619
5 IL1RN IL1RN, 175-KB DEL Deletion Pathogenic 14678 GRCh37:
GRCh38:
6 IL1RN NM_173842.3(IL1RN):c.213_227del (p.Asp72_Ile76del) Deletion Likely pathogenic 660820 rs1340890598 GRCh37: 2:113888627-113888641
GRCh38: 2:113131050-113131064
7 IL1RN NM_173842.3(IL1RN):c.414T>C (p.Ser138=) SNV Conflicting interpretations of pathogenicity 735122 rs146491054 GRCh37: 2:113890328-113890328
GRCh38: 2:113132751-113132751
8 IL1RN NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys) SNV Conflicting interpretations of pathogenicity 330829 rs114929884 GRCh37: 2:113890443-113890443
GRCh38: 2:113132866-113132866
9 IL1RN NM_173841.2(IL1RN):c.126-9C>T SNV Conflicting interpretations of pathogenicity 752447 rs373136455 GRCh37: 2:113887144-113887144
GRCh38: 2:113129567-113129567
10 IL1RN NM_173842.3(IL1RN):c.496G>A (p.Val166Ile) SNV Uncertain significance 944477 GRCh37: 2:113890410-113890410
GRCh38: 2:113132833-113132833
11 IL1RN NM_173842.3(IL1RN):c.169G>T (p.Ala57Ser) SNV Uncertain significance 948707 GRCh37: 2:113887205-113887205
GRCh38: 2:113129628-113129628
12 NFKBIA NM_020529.3(NFKBIA):c.91G>A (p.Asp31Asn) SNV Uncertain significance 810671 GRCh37: 14:35873760-35873760
GRCh38: 14:35404554-35404554
13 IL1RN NM_173842.3(IL1RN):c.*350C>G SNV Uncertain significance 892868 GRCh37: 2:113890798-113890798
GRCh38: 2:113133221-113133221
14 IL1RN NM_173841.2(IL1RN):c.-71A>G SNV Uncertain significance 330819 rs748164399 GRCh37: 2:113875525-113875525
GRCh38: 2:113117948-113117948
15 IL1RN NM_173841.2(IL1RN):c.*382C>T SNV Uncertain significance 330839 rs45566534 GRCh37: 2:113890830-113890830
GRCh38: 2:113133253-113133253
16 IL1RN NM_173841.2(IL1RN):c.*130C>T SNV Uncertain significance 330831 rs541642811 GRCh37: 2:113890578-113890578
GRCh38: 2:113133001-113133001
17 IL1RN NM_173841.2(IL1RN):c.*165C>T SNV Uncertain significance 330834 rs886054773 GRCh37: 2:113890613-113890613
GRCh38: 2:113133036-113133036
18 IL1RN NM_173842.3(IL1RN):c.*605T>C SNV Uncertain significance 892870 GRCh37: 2:113891053-113891053
GRCh38: 2:113133476-113133476
19 IL1RN NM_173842.3(IL1RN):c.166G>A (p.Val56Ile) SNV Uncertain significance 893643 GRCh37: 2:113887202-113887202
GRCh38: 2:113129625-113129625
20 IL1RN NM_173842.3(IL1RN):c.205+8G>A SNV Uncertain significance 893644 GRCh37: 2:113887249-113887249
GRCh38: 2:113129672-113129672
21 IL1RN NM_173842.3(IL1RN):c.*1070T>G SNV Uncertain significance 893683 GRCh37: 2:113891518-113891518
GRCh38: 2:113133941-113133941
22 IL1RN NM_173842.3(IL1RN):c.*75C>G SNV Uncertain significance 893932 GRCh37: 2:113890523-113890523
GRCh38: 2:113132946-113132946
23 IL1RN NM_173842.3(IL1RN):c.*290T>A SNV Uncertain significance 894317 GRCh37: 2:113890738-113890738
GRCh38: 2:113133161-113133161
24 IL1RN NM_173842.3(IL1RN):c.*303C>G SNV Uncertain significance 894318 GRCh37: 2:113890751-113890751
GRCh38: 2:113133174-113133174
25 IL1RN NM_000577.5(IL1RN):c.*691del Deletion Uncertain significance 330843 rs4252029 GRCh37: 2:113891130-113891130
GRCh38: 2:113133553-113133553
26 IL1RN NM_000577.5(IL1RN):c.*644del Deletion Uncertain significance 330842 rs757094565 GRCh37: 2:113891092-113891092
GRCh38: 2:113133515-113133515
27 IL1RN NM_173841.2(IL1RN):c.*1049A>G SNV Uncertain significance 330848 rs886054778 GRCh37: 2:113891497-113891497
GRCh38: 2:113133920-113133920
28 IL1RN NM_000577.5(IL1RN):c.*490del Deletion Uncertain significance 330840 rs565976240 GRCh37: 2:113890928-113890928
GRCh38: 2:113133351-113133351
29 IL1RN NM_173841.2(IL1RN):c.327+12C>G SNV Uncertain significance 330826 rs561872655 GRCh37: 2:113888746-113888746
GRCh38: 2:113131169-113131169
30 IL1RN NM_173841.2(IL1RN):c.*245G>A SNV Uncertain significance 330835 rs886054774 GRCh37: 2:113890693-113890693
GRCh38: 2:113133116-113133116
31 IL1RN NM_173841.2(IL1RN):c.*1145A>G SNV Uncertain significance 330849 rs886054779 GRCh37: 2:113891593-113891593
GRCh38: 2:113134016-113134016
32 IL1RN NM_173841.2(IL1RN):c.*369T>A SNV Uncertain significance 330838 rs886054775 GRCh37: 2:113890817-113890817
GRCh38: 2:113133240-113133240
33 IL1RN NM_173841.2(IL1RN):c.*601C>G SNV Uncertain significance 330841 rs572782935 GRCh37: 2:113891049-113891049
GRCh38: 2:113133472-113133472
34 IL1RN NM_173841.2(IL1RN):c.*1040G>A SNV Uncertain significance 330847 rs886054777 GRCh37: 2:113891488-113891488
GRCh38: 2:113133911-113133911
35 IL1RN NM_173841.2(IL1RN):c.*119C>T SNV Uncertain significance 330830 rs377302236 GRCh37: 2:113890567-113890567
GRCh38: 2:113132990-113132990
36 IL1RN NM_173842.3(IL1RN):c.79C>T (p.Pro27Ser) SNV Uncertain significance 537713 rs747206860 GRCh37: 2:113885280-113885280
GRCh38: 2:113127703-113127703
37 IL1RN NM_173842.3(IL1RN):c.245T>A (p.Phe82Tyr) SNV Uncertain significance 537714 rs1553469985 GRCh37: 2:113888661-113888661
GRCh38: 2:113131084-113131084
38 IL1RN NM_173842.3(IL1RN):c.374T>G (p.Phe125Cys) SNV Uncertain significance 566627 rs1253995385 GRCh37: 2:113890288-113890288
GRCh38: 2:113132711-113132711
39 IL1RN NM_173842.3(IL1RN):c.450G>A (p.Met150Ile) SNV Uncertain significance 572852 rs1453476284 GRCh37: 2:113890364-113890364
GRCh38: 2:113132787-113132787
40 IL1RN NM_173842.3(IL1RN):c.109G>T (p.Ala37Ser) SNV Uncertain significance 656964 rs1573301763 GRCh37: 2:113885310-113885310
GRCh38: 2:113127733-113127733
41 IL1RN NM_173842.3(IL1RN):c.185G>A (p.Gly62Glu) SNV Uncertain significance 660469 rs1203011392 GRCh37: 2:113887221-113887221
GRCh38: 2:113129644-113129644
42 IL1RN NM_173842.3(IL1RN):c.272G>T (p.Cys91Phe) SNV Uncertain significance 581626 rs201638660 GRCh37: 2:113888688-113888688
GRCh38: 2:113131111-113131111
43 IL1RN NM_173842.3(IL1RN):c.197A>G (p.Asn66Ser) SNV Uncertain significance 998509 GRCh37: 2:113887233-113887233
GRCh38: 2:113129656-113129656
44 IL1RN NM_173842.3(IL1RN):c.449T>C (p.Met150Thr) SNV Uncertain significance 1002121 GRCh37: 2:113890363-113890363
GRCh38: 2:113132786-113132786
45 IL1RN NM_173842.3(IL1RN):c.318+3A>G SNV Uncertain significance 1004657 GRCh37: 2:113888737-113888737
GRCh38: 2:113131160-113131160
46 IL1RN NM_173842.3(IL1RN):c.526G>A (p.Asp176Asn) SNV Uncertain significance 1005039 GRCh37: 2:113890440-113890440
GRCh38: 2:113132863-113132863
47 IL1RN NM_173842.3(IL1RN):c.267G>C (p.Lys89Asn) SNV Uncertain significance 1006607 GRCh37: 2:113888683-113888683
GRCh38: 2:113131106-113131106
48 IL1RN NM_173841.3(IL1RN):c.26A>T (p.Glu9Val) SNV Uncertain significance 1009294 GRCh37: 2:113877658-113877658
GRCh38: 2:113120081-113120081
49 IL1RN NM_000577.5(IL1RN):c.10+2055G>C SNV Uncertain significance 567545 rs770976676 GRCh37: 2:113877660-113877660
GRCh38: 2:113120083-113120083
50 IL1RN NM_173841.3(IL1RN):c.4G>A (p.Ala2Thr) SNV Uncertain significance 953776 GRCh37: 2:113875599-113875599
GRCh38: 2:113118022-113118022

Expression for Osteomyelitis, Sterile Multifocal, with Periostitis and...

Search GEO for disease gene expression data for Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis.

Pathways for Osteomyelitis, Sterile Multifocal, with Periostitis and...

Pathways related to Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 NFKBIA IL1RN
2 11.67 NFKBIA IL1RN
3
Show member pathways
11.41 NFKBIA IL1RN
4
Show member pathways
10.93 NFKBIA IL1RN

GO Terms for Osteomyelitis, Sterile Multifocal, with Periostitis and...

Biological processes related to Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interleukin-1-mediated signaling pathway GO:0070498 8.62 NFKBIA IL1RN

Sources for Osteomyelitis, Sterile Multifocal, with Periostitis and...

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45 MESH via Orphanet
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56 OMIM via Orphanet
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71 UMLS via Orphanet
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