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Disease Profile
Neonatal Onset Multisystem Inflammatory disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
E85.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Chronic Infantile Neurological Cutaneous Articular syndrome; CINCA syndrome; CINCA;
Categories
Congenital and Genetic Diseases; Eye diseases; Immune System Diseases;
Summary
Neonatal onset multisystem inflammatory disease (NOMID) is an inflammatory disorder present from birth (
Symptoms
People with NOMID often experience joint inflammation, swelling, and cartilage overgrowth, causing characteristic prominent knees and other skeletal abnormalities that worsen over time. Joint deformities called
Other features of this disorder include
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of neutrophils | 0001874 | |
Arthralgia |
Joint pain
|
0002829 |
Short fingers or toes
|
0001156 | |
Elevated C-reactive protein level | 0011227 | |
Elevated |
High ESR
|
0003565 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Fever | 0001945 | |
Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 |
Meningitis | 0001287 | |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Nausea and vomiting | 0002017 | |
Papule | 0200034 | |
Pseudopapilledema | 0000538 | |
Sensorineural hearing impairment | 0000407 | |
Urticaria |
Hives
|
0001025 |
Uveitis | 0000554 | |
30%-79% of people have these symptoms | ||
Abnormal |
Platelet abnormalities
|
0001872 |
Low number of red blood cells or hemoglobin
|
0001903 | |
Delayed closure of the anterior fontanelle |
Later than typical closing of soft spot of skull
|
0001476 |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Frontal bossing | 0002007 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 |
Leukocytosis |
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] |
0001974 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Skeletal dysplasia | 0002652 | |
Splenomegaly |
Increased spleen size
|
0001744 |
5%-29% of people have these symptoms | ||
Blindness | 0000618 | |
0002353 | ||
Global |
0001263 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Purpura |
Red or purple spots on the skin
|
0000979 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Retrobulbar optic neuritis | 0100654 | |
1%-4% of people have these symptoms | ||
Joint inflammation
|
0001369 | |
Childhood onset |
Symptoms begin in childhood
|
0011463 |
Eosinophilia |
High blood eosinophil count
|
0001880 |
Enlarged liver and spleen
|
0001433 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
Neonatal onset | 0003623 | |
Papilledema | 0001085 | |
Progressive sensorineural hearing impairment | 0000408 | |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] |
0001954 |
Seizure | 0001250 | |
Skin rash | 0000988 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 |
Cause
The NLRP3 gene provides instructions for making a
A genetic mutation in the NLRP3 gene is not found in about 50% of individuals with NOMID.[2][4]
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Rilonacept(Brand name: Arcalyst) Manufactured by Regeneron Pharmaceuticals, Inc.
FDA-approved indication: February 2008, rilonacept (Arcalyst) was approved for treatment of cryopyrin-assisted periodicsyndromes (CAPS).
National Library of Medicine Drug Information Portal - Anakinra(Brand name: Kineret) Manufactured by Swedish Orphan Biovitrum AB; SOBI
FDA-approved indication: December 2012, anakinra (Kineret) was approved for the treatment of neonatal-onset multisystem inflammatory disease (NOMID).
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
An infectious disease is often suspected at disease onset. CINCA should be differentiated from similar monogenic or multifactorial autoinflammatory diseases, including, systemic onset juvenile idiopathic arthritis, tumor necrosis factor receptor 1 associated periodic syndrome, and the severe form of mevalonate kinase deficiency, CANDLE syndrome as well as the milder phenotype associated to mutations of NLRP3 (familial cold urticarial and Muckle-Wells syndrome).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
FMF & AID Global Association
Schüracherstrasse 25a
8306 Brüttisellen
Switzerland
Telephone: +41 76 415 4010
E-mail: [email protected]
Website: https://www.fmfandaid.org/
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- Genetics Home Reference (GHR) contains information on Neonatal Onset Multisystem Inflammatory disease. This website is maintained by the National Library of Medicine.
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Neonatal Onset Multisystem Inflammatory disease. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Leigh D Church, Sinisa Savic, and Michael F McDermott; Long term management of patients with cryopyrin-associated periodic syndromes (CAPS): focus on rilonacept (IL-1 Trap), Biologics. 2008 December; 2(4): 733–742.
References
- Victor A. McKusick. CINCA Syndrome. In: Marla J. F. O'Neill. Online Mendelian Inheritance in Man (OMIM). 2/13/2012; https://www.omim.org/entry/607115. Accessed 10/25/2016.
- neonatal onset multisystem inflammatory disease. Genetics Home Reference. September 2008; https://ghr.nlm.nih.gov/condition/neonatal-onset-multisystem-inflammatory-disease#definition. Accessed 10/25/2016.
- Hoffman H. Neonatal-onset Multisystem Inflammatory Disease. National Organization for Rare Disorders (NORD). 2011; https://rarediseases.org/rare-diseases/neonatal-onset-multisystem-inflammatory-disease/. Accessed 10/25/2016.
- NOMID/CINCA. Autoinflammatory Alliance. https://www.autoinflammatory.org/nomid.php. Accessed 10/25/2016.
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