Rare Endocrinology News
Disease Profile
Chediak-Higashi syndrome
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
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.
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)
Chediak Higashi syndrome; CHS
Categories
Blood Diseases; Congenital and Genetic Diseases; Eye diseases;
Summary
Chediak-Higashi
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 |
0031408 | |||
Vacuolated |
0001922 | |||
30%-79% of people have these symptoms | ||||
Abnormal natural killer cell morphology | 0012176 | |||
Abnormal |
0011869 | |||
Abnormality of neutrophil physiology | 0011990 | |||
Abnormality of retinal pigmentation | 0007703 | |||
Bruising |
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 | |||
Enlarged liver and spleen
|
0001433 | |||
Hypopigmentation of hair |
Loss of hair color
|
0005599 | ||
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 |
0001583 | |||
Splenomegaly |
Increased spleen size
|
0001744 | ||
5%-29% of people have these symptoms | ||||
Low number of red blood cells or hemoglobin
|
0001903 | |||
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, 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 | |||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |||
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 | ||
0001250 | ||||
Sensory impairment | 0003474 | |||
Sensory neuropathy |
Damage to nerves that sense feeling
|
0000763 | ||
Skin rash | 0000988 | |||
Spastic paraplegia | 0001258 | |||
Specific learning disability |
Related diseasesRelated 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.
OrganizationsSupport 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 moreThese 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
References
Rare Endocrinology News |