Rare Gastroenterology News

Disease Profile

Chediak-Higashi 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.

Unknown

Age of onset

Childhood

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ICD-10

E70.3

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)

Chediak Higashi syndrome; CHS

Categories

Blood Diseases; Congenital and Genetic Diseases; Eye diseases;

Summary

Chediak-Higashi syndrome is a genetic syndrome that affects the immune system, as well as other parts of the body. Signs and symptoms include a weakened immune system, repeated and persistent infections beginning in infancy and childhood, oculocutaneous albinism, blood clotting problems, and nervous system abnormalities (e.g., weakness, difficulty walking, and seizures). Complications from this syndrome can become life-threatening. It is caused by mutations in the LYST gene and is inherited in an autosomal recessive fashion.[1]

Symptoms

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
Hemophagocytosis
0012156
Hypopigmentation of the skin
Patchy lightened skin
0001010
Increased proportion of CD25+ mast cells
0031408
Vacuolated lymphocytes
0001922
30%-79% of people have these symptoms
Abnormal natural killer cell morphology
0012176
Abnormal platelet function
0011869
Abnormality of neutrophil physiology
0011990
Abnormality of retinal pigmentation
0007703
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity

[ more ]

0000992
Decreased liver function
Liver dysfunction
0001410
Fever
0001945
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Hypopigmentation of hair
Loss of hair color
0005599
Immunodeficiency
Decreased immune function
0002721
Increased serum ferritin
Elevated serum ferritin
High ferritin level
Increased ferritin
Increased serum ferritin level

[ more ]

0003281
Iris hypopigmentation
Light eye color
0007730
Large clumps of pigment irregularly distributed along hair shaft
0004527
Periodontitis
0000704
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
Recurrent bacterial skin infections
0005406
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Recurrent staphylococcal infections
0007499
Recurrent streptococcal infections
0020096
Reduced visual acuity
Decreased clarity of vision
0007663
Rotary nystagmus
0001583
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Ataxia
0001251
Atrophy of alveolar ridges
Shrinking of gum ridges
0006308
Atrophy of the spinal cord
Degeneration of the spinal cord
0006827
Brain atrophy
Brain degeneration
Brain wasting

[ more ]

0012444
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cranial nerve paralysis
0006824
Decreased nerve conduction velocity
0000762
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
Elevated hepatic transaminase
High liver enzymes
0002910
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed

[ more ]

0000421
Gingival bleeding
Bleeding gums
0000225
Horizontal nystagmus
0000666
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides

[ more ]

0002155
Hypofibrinogenemia
0011900
Hyponatremia
Low blood sodium levels
0002902
Hypoproteinemia
Decreased protein levels in blood
0003075
Inability to walk
0002540
Increased lactate dehydrogenase level
0025435
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Lymphadenopathy
Swollen lymph nodes
0002716
Motor polyneuropathy
0007178
Muscle weakness
Muscular weakness
0001324
Neutropenia
Low blood neutrophil count
Low neutrophil count

[ more ]

0001875
Pancytopenia
Low blood cell count
0001876
Parkinsonism
0001300
Pericardial effusion
Fluid around heart
0001698
Pleural effusion
Fluid around lungs
0002202
Seizure
0001250
Sensory impairment
0003474
Sensory neuropathy
Damage to nerves that sense feeling
0000763
Skin rash
0000988
Spastic paraplegia
0001258
Specific learning disability

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

    Organizations Providing General Support

      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

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Chediak-Higashi syndrome. This website is maintained by the National Library of Medicine.
      • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
      • 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

        • 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.
        • 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 Chediak-Higashi syndrome. Click on the link to view a sample search on this topic.

          References

          1. Chediak Higashi syndrome. Genetics Home Reference. 2008; https://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome. Accessed 11/7/2011.

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