MCID: OST167
MIFTS: 33

Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases, Blood 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 40
Interleukin 1 Receptor Antagonist Deficiency 57 53 75 37 13 73
Dira 57 53 59 75
Autoinflammatory Disease Due to Interleukin-1 Receptor Antagonist Deficiency 59 75
Ompp 57 59
Sterile Multifocal Osteomyelitis with Periostitis and Pustulosis 59
Interleukin 1 Receptor Antagonist Deficiency; Dira 57
Deficiency of Interleukin-1 Receptor Antagonist 53
Interleukin-1 Receptor Antagonist Deficiency 59
Interleukin-1 Receptor Antagonist 13

Characteristics:

Orphanet epidemiological data:

59
sterile multifocal osteomyelitis with periostitis and pustulosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
osteomyelitis, sterile multifocal, with periostitis and pustulosis:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis, also known as interleukin 1 receptor antagonist deficiency, is related to chronic recurrent multifocal osteomyelitis and allergic rhinitis, 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). The drugs Antirheumatic Agents and Interleukin 1 Receptor Antagonist Protein have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and t cells, and related phenotypes are hyperkeratosis and joint swelling

Wikipedia : 76 Deficiency of the interleukin-1–receptor antagonist (DIRA) is a autosomal recessive, genetic... more...

Description from OMIM: 612852

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

Diseases related to Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 chronic recurrent multifocal osteomyelitis 10.9
2 allergic rhinitis 9.9
3 epilepsy 9.9
4 rhinitis 9.9
5 rheumatoid arthritis 9.8
6 arthritis 9.8
7 arthropathy 9.8
8 psoriasis 9.8
9 pustular psoriasis 9.8
10 aortic valve disease 1 9.8
11 fatty liver disease 9.8
12 aneurysm 9.8
13 aortitis 9.8

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...

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

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

Skeletal Hands:
interphalangeal joint swelling

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

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

Prenatal Manifestations Delivery:
fetal distress

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

Skeletal Spine:
cervical vertebral fusion (in some patients)

Skin Nails Hair Skin:
pustulosis or pustular psoriasis, generalized

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


Clinical features from OMIM:

612852

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962
2 joint swelling 32 HP:0001386
3 splenomegaly 32 HP:0001744
4 respiratory distress 32 occasional (7.5%) HP:0002098
5 hepatomegaly 32 HP:0002240
6 osteomyelitis 32 HP:0002754
7 arthralgia 32 HP:0002829
8 fused cervical vertebrae 32 occasional (7.5%) HP:0002949
9 interstitial pulmonary abnormality 32 occasional (7.5%) HP:0006530
10 stomatitis 32 HP:0010280
11 epidermal acanthosis 32 HP:0025092
12 fetal distress 32 HP:0025116
13 periostitis 32 HP:0040165

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


arthralgia, interphalangeal joint swelling

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 Antirheumatic Agents Phase 2
2 Interleukin 1 Receptor Antagonist Protein Phase 2
3 Antibodies Phase 2
4 Antibodies, Monoclonal Phase 2
5 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rilonacept for Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) Completed NCT01801449 Phase 2 Rilonacept
2 Ilaris (Canakinumab) in the Schnitzler Syndrome Completed NCT01245127 Phase 2 Ilaris

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:

41
Bone, Skin, T Cells, Neutrophil, Lung

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

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

# Title Authors Year
1
Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis. ( 22431714 )
2012
2
Development of chronic inflammatory arthropathy resembling rheumatoid arthritis in interleukin 1 receptor antagonist-deficient mice. ( 10637275 )
2000

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 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL1RN NM_173842.2(IL1RN): c.229G> T (p.Glu77Ter) single nucleotide variant Pathogenic rs121913161 GRCh37 Chromosome 2, 113888645: 113888645
2 IL1RN NM_173842.2(IL1RN): c.229G> T (p.Glu77Ter) single nucleotide variant Pathogenic rs121913161 GRCh38 Chromosome 2, 113131068: 113131068
3 IL1RN NM_173842.2(IL1RN): c.160C> T (p.Gln54Ter) single nucleotide variant Pathogenic rs121913162 GRCh37 Chromosome 2, 113887196: 113887196
4 IL1RN NM_173842.2(IL1RN): c.160C> T (p.Gln54Ter) single nucleotide variant Pathogenic rs121913162 GRCh38 Chromosome 2, 113129619: 113129619
5 IL1RN IL1RN, 2-BP DEL, 156CA deletion Pathogenic
6 IL1RN IL1RN, 175-KB DEL deletion Pathogenic
7 IL1RN NM_173841.2(IL1RN): c.78G> A (p.Thr26=) single nucleotide variant Conflicting interpretations of pathogenicity rs2232353 GRCh37 Chromosome 2, 113885270: 113885270
8 IL1RN NM_173841.2(IL1RN): c.78G> A (p.Thr26=) single nucleotide variant Conflicting interpretations of pathogenicity rs2232353 GRCh38 Chromosome 2, 113127693: 113127693
9 IL1RN NM_173841.2(IL1RN): c.*130C> T single nucleotide variant Uncertain significance rs541642811 GRCh38 Chromosome 2, 113133001: 113133001
10 IL1RN NM_173841.2(IL1RN): c.*130C> T single nucleotide variant Uncertain significance rs541642811 GRCh37 Chromosome 2, 113890578: 113890578
11 IL1RN NM_173841.2(IL1RN): c.*138C> G single nucleotide variant Benign rs315951 GRCh38 Chromosome 2, 113133009: 113133009
12 IL1RN NM_173841.2(IL1RN): c.*138C> G single nucleotide variant Benign rs315951 GRCh37 Chromosome 2, 113890586: 113890586
13 IL1RN NM_173841.2(IL1RN): c.*311G> A single nucleotide variant Likely benign rs4252028 GRCh38 Chromosome 2, 113133182: 113133182
14 IL1RN NM_173841.2(IL1RN): c.*311G> A single nucleotide variant Likely benign rs4252028 GRCh37 Chromosome 2, 113890759: 113890759
15 IL1RN NM_173841.2(IL1RN): c.*382C> T single nucleotide variant Uncertain significance rs45566534 GRCh38 Chromosome 2, 113133253: 113133253
16 IL1RN NM_173841.2(IL1RN): c.*382C> T single nucleotide variant Uncertain significance rs45566534 GRCh37 Chromosome 2, 113890830: 113890830
17 IL1RN NM_173841.2(IL1RN): c.*490delT deletion Uncertain significance rs886054776 GRCh38 Chromosome 2, 113133361: 113133361
18 IL1RN NM_173841.2(IL1RN): c.*490delT deletion Uncertain significance rs886054776 GRCh37 Chromosome 2, 113890938: 113890938
19 IL1RN NM_173841.2(IL1RN): c.*644delT deletion Uncertain significance rs757094565 GRCh38 Chromosome 2, 113133515: 113133515
20 IL1RN NM_173841.2(IL1RN): c.*644delT deletion Uncertain significance rs757094565 GRCh37 Chromosome 2, 113891092: 113891092
21 IL1RN NM_173841.2(IL1RN): c.-12G> C single nucleotide variant Benign rs2234679 GRCh37 Chromosome 2, 113875584: 113875584
22 IL1RN NM_173841.2(IL1RN): c.-12G> C single nucleotide variant Benign rs2234679 GRCh38 Chromosome 2, 113118007: 113118007
23 IL1RN NM_173841.2(IL1RN): c.125+5G> A single nucleotide variant Benign/Likely benign rs4252004 GRCh37 Chromosome 2, 113885322: 113885322
24 IL1RN NM_173841.2(IL1RN): c.125+5G> A single nucleotide variant Benign/Likely benign rs4252004 GRCh38 Chromosome 2, 113127745: 113127745
25 IL1RN NM_173841.2(IL1RN): c.180T> C (p.Ala60=) single nucleotide variant Benign rs419598 GRCh38 Chromosome 2, 113129630: 113129630
26 IL1RN NM_173841.2(IL1RN): c.180T> C (p.Ala60=) single nucleotide variant Benign rs419598 GRCh37 Chromosome 2, 113887207: 113887207
27 IL1RN NM_173841.2(IL1RN): c.468C> T (p.Asp156=) single nucleotide variant Benign/Likely benign rs4252023 GRCh38 Chromosome 2, 113132796: 113132796
28 IL1RN NM_173841.2(IL1RN): c.468C> T (p.Asp156=) single nucleotide variant Benign/Likely benign rs4252023 GRCh37 Chromosome 2, 113890373: 113890373
29 IL1RN NM_173841.2(IL1RN): c.538G> A (p.Glu180Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs114929884 GRCh38 Chromosome 2, 113132866: 113132866
30 IL1RN NM_173841.2(IL1RN): c.538G> A (p.Glu180Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs114929884 GRCh37 Chromosome 2, 113890443: 113890443
31 IL1RN NM_173841.2(IL1RN): c.*1145A> G single nucleotide variant Uncertain significance rs886054779 GRCh38 Chromosome 2, 113134016: 113134016
32 IL1RN NM_173841.2(IL1RN): c.*1145A> G single nucleotide variant Uncertain significance rs886054779 GRCh37 Chromosome 2, 113891593: 113891593
33 IL1RN NM_173841.2(IL1RN): c.-87G> A single nucleotide variant Benign rs2234677 GRCh38 Chromosome 2, 113117932: 113117932
34 IL1RN NM_173841.2(IL1RN): c.-87G> A single nucleotide variant Benign rs2234677 GRCh37 Chromosome 2, 113875509: 113875509
35 IL1RN NM_173841.2(IL1RN): c.-83G> A single nucleotide variant Uncertain significance rs45526933 GRCh38 Chromosome 2, 113117936: 113117936
36 IL1RN NM_173841.2(IL1RN): c.-83G> A single nucleotide variant Uncertain significance rs45526933 GRCh37 Chromosome 2, 113875513: 113875513
37 IL1RN NM_173841.2(IL1RN): c.-71A> G single nucleotide variant Uncertain significance rs748164399 GRCh37 Chromosome 2, 113875525: 113875525
38 IL1RN NM_173841.2(IL1RN): c.-71A> G single nucleotide variant Uncertain significance rs748164399 GRCh38 Chromosome 2, 113117948: 113117948
39 IL1RN NM_173841.2(IL1RN): c.-31A> G single nucleotide variant Benign rs2234678 GRCh38 Chromosome 2, 113117988: 113117988
40 IL1RN NM_173841.2(IL1RN): c.-31A> G single nucleotide variant Benign rs2234678 GRCh37 Chromosome 2, 113875565: 113875565
41 IL1RN NM_173841.2(IL1RN): c.327+12C> G single nucleotide variant Uncertain significance rs561872655 GRCh37 Chromosome 2, 113888746: 113888746
42 IL1RN NM_173841.2(IL1RN): c.327+12C> G single nucleotide variant Uncertain significance rs561872655 GRCh38 Chromosome 2, 113131169: 113131169
43 IL1RN NM_173841.2(IL1RN): c.*162C> T single nucleotide variant Likely benign rs4252041 GRCh38 Chromosome 2, 113133033: 113133033
44 IL1RN NM_173841.2(IL1RN): c.*162C> T single nucleotide variant Likely benign rs4252041 GRCh37 Chromosome 2, 113890610: 113890610
45 IL1RN NM_173841.2(IL1RN): c.*165C> T single nucleotide variant Uncertain significance rs886054773 GRCh38 Chromosome 2, 113133036: 113133036
46 IL1RN NM_173841.2(IL1RN): c.*165C> T single nucleotide variant Uncertain significance rs886054773 GRCh37 Chromosome 2, 113890613: 113890613
47 IL1RN NM_173841.2(IL1RN): c.*245G> A single nucleotide variant Uncertain significance rs886054774 GRCh38 Chromosome 2, 113133116: 113133116
48 IL1RN NM_173841.2(IL1RN): c.*245G> A single nucleotide variant Uncertain significance rs886054774 GRCh37 Chromosome 2, 113890693: 113890693
49 IL1RN NM_173841.2(IL1RN): c.*369T> A single nucleotide variant Uncertain significance rs886054775 GRCh38 Chromosome 2, 113133240: 113133240
50 IL1RN NM_173841.2(IL1RN): c.*369T> A single nucleotide variant Uncertain significance rs886054775 GRCh37 Chromosome 2, 113890817: 113890817

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...

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

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

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