Disease Profile

Majeed syndrome

Prevalence ?
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

Infancy

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ICD-10

-

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other Names (AKA)

Chronic recurrent multifocal osteomyelitis, congenital; Dyserythropoietic anemia, and neutrophilic dermatosis; Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis;

Categories

Blood Diseases; Congenital and Genetic Diseases; Immune System Diseases;

Summary

Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. CDA involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. Majeed syndrome results from mutations in the LPIN2 gene. This condition is inherited in an autosomal recessive pattern.[1]

Symptoms

Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome:[1]

  • Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of pain and joint swelling. These symptoms begin in infancy or early childhood and typically persist into adulthood, although there may be short periods of improvement. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints.
  • Congenital dyserythropoietic anemia is a blood disorder which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe.

Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms.[1]

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 bone marrow cell morphology
0005561
Arthralgia
Joint pain
0002829
Bone pain
0002653
Cachexia
Wasting syndrome
0004326
Congenital hypoplastic anemia
0004810
Fever
0001945
Hypochromic microcytic anemia
0004840
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Osteomyelitis
Bone infection
0002754
Papule
0200034
Pustule
Pimple
0200039
30%-79% of people have these symptoms
Acne
0001061
Edema
Fluid retention
Water retention

[ more ]

0000969
Failure to thrive
Weight faltering
Faltering weight

[ more ]

0001508
Headache
Headaches
0002315
Hepatomegaly
Enlarged liver
0002240
Increased bone mineral density
Increased bone density
0011001
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number

[ more ]

0001974
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Splenomegaly
Increased spleen size
0001744
Synovitis
0100769
5%-29% of people have these symptoms
Cough
Coughing
0012735
Flexion contracture
Flexed joint that cannot be straightened
0001371
Glomerulopathy
0100820
Increased susceptibility to fractures
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures

[ more ]

0002659
Malabsorption
Intestinal malabsorption
0002024
Microscopic hematuria
Small amount of blood in urine
0002907
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Pulmonary infiltrates
Lung infiltrates
0002113
1%-4% of people have these symptoms
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Elevated erythrocyte sedimentation rate
High ESR
0003565
Erythroid hyperplasia
0012132
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Joint swelling
0001386
Microcytic anemia
0001935
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever

[ more ]

0001954
Skin rash
0000988
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Decreased mean corpuscular volume
0025066

Cause

Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell division. Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome.[1]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. If CRMO does not respond to NSAIDs, corticosteroids can be used short term to control CRMO and skin manifestations. Resolution of bone inflammation has been reported in at least two children who were treated with an IL-1 inhibitor. Congenital dyserythropoietic anemia (CDA) may be treated with red blood cell transfusion.[2]

    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

      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

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • 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 Majeed syndrome. Click on the link to view a sample search on this topic.

          References

          1. Majeed syndrome. Genetics Home Reference (GHR). August 2009; https://ghr.nlm.nih.gov/condition/majeed-syndrome. Accessed 10/31/2013.
          2. El-Shanti H, Ferguson P. Majeed Syndrome. GeneReviews. March 14, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1974/. Accessed 10/31/2013.