Sterile Multifocal Osteomyelitis With Periostitis And Pustulosis

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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.

Genes related to Sterile Multifocal Osteomyelitis With Periostitis And Pustulosis

IL1RN

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Clinical Features

Top most frequent phenotypes and symptoms related to Sterile Multifocal Osteomyelitis With Periostitis And Pustulosis

Pain
Feeding difficulties
Hepatomegaly
Fever
Respiratory insufficiency
Respiratory distress
Splenomegaly
Hyperkeratosis
Osteopenia
Arthralgia

And another 26 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Sterile Multifocal Osteomyelitis With Periostitis And Pustulosis Is also known as interleukin-1 receptor antagonist deficiency, interleukin 1 receptor antagonist deficiency, autoinflammatory disease due to interleukin-1 receptor antagonist deficiency, dira, ompp.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sterile Multifocal Osteomyelitis With Periostitis And Pustulosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
IL1RN. By Institute for Human Genetics University Clinic Freiburg (Germany). IL1RN Specificity 100 % Genes 100 %
IL1RN. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). IL1RN Specificity 100 % Genes 100 %
IL1RN. Detection of the polymorphism of the intron 2. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). IL1RN Specificity 100 % Genes 100 %
Periodontitis susceptibility test (3 polymorphisms) and detection of periodontal pathogens agents (panel of 4 main bacteria). By CGC Genetics (Portugal). IL1A, IL1B, IL1RN Specificity 34 % Genes 100 %
Periodontal disease susceptibility test (3 polymorphisms). By CGC Genetics (Portugal). IL1RN Specificity 100 % Genes 100 %
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency (sequence analysis of IL1RN gene). By CGC Genetics (Portugal). IL1RN Specificity 100 % Genes 100 %
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency (sequence analysis of IL1RN gene). By CGC Genetics (Portugal). IL1RN Specificity 100 % Genes 100 %
IL1RN. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). IL1RN Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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