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Disease Profile
Gaucher 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.
1-9 / 100 000
Age of onset
All ages
ICD-10
E75.2
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)
Acute cerebral Gaucher disease; Cerebroside lipidosis syndrome; Gaucher splenomegaly;
Categories
Heart Diseases; Metabolic disorders
Summary
Gaucher disease refers to a group of
There are different types of Gaucher disease classified according to specific features and severity: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, and cardiovascular type or Type 3C (where the main problem is a hardening (calcification) of the heart valves). Gaucher disease type 1 is the most common form. Gaucher disease follows an
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 | |||
Low number of red blood cells or hemoglobin
|
0001903 | ||
Fatigue |
Tired
Tiredness
[ more ] |
0012378 | |
Hepatomegaly |
Enlarged liver
|
0002240 | |
Splenomegaly |
Increased spleen size
|
0001744 | |
30%-79% of people have these symptoms | |||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 | |
Arthralgia |
Joint pain
|
0002829 | |
0001251 | |||
Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 | |
Bilateral tonic-clonic |
Grand mal seizures
|
0002069 | |
Bone pain | 0002653 | ||
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 | |
Depressivity |
Depression
|
0000716 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | ||
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | ||
Feeding difficulties in infancy | 0008872 | ||
Fever | 0001945 | ||
Generalized myoclonic seizure | 0002123 | ||
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 | |
Osteopenia | 0000938 | ||
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | ||
Low platelet count
|
0001873 | ||
5%-29% of people have these symptoms | |||
Abnormal macular morphology | 0001103 | ||
Abnormal myocardium morphology | 0001637 | ||
Abnormal pericardium morphology | 0001697 | ||
Abnormality of extrapyramidal motor function | 0002071 | ||
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] |
0001000 | |
Aortic valve calcification | 0004380 | ||
Arthrogryposis multiplex congenita | 0002804 | ||
Cherry red spot of the macula | 0010729 | ||
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 | |
Corneal opacity | 0007957 | ||
Cranial nerve paralysis | 0006824 | ||
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 | |
Elevated C-reactive |
0011227 | ||
Gingival bleeding |
Bleeding gums
|
0000225 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 | |
Hematuria |
Blood in urine
|
0000790 | |
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 | |
Hepatitis |
Liver inflammation
|
0012115 | |
Too much cerebrospinal fluid in the brain
|
0000238 | ||
Hydrops fetalis | 0001789 | ||
Ichthyosis | 0008064 | ||
Increased bone mineral density |
Increased bone density
|
0011001 | |
Increased circulating |
0010702 | ||
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 | |
Mitral valve calcification | 0004382 | ||
Muscular |
Low or weak muscle tone
|
0001252 | |
Oculomotor apraxia | 0000657 | ||
Osteoarthritis |
Degenerative joint disease
|
0002758 | |
Osteolysis |
Breakdown of bone
|
0002797 | |
Osteomyelitis |
Bone infection
|
0002754 | |
Pancytopenia |
Low blood cell count
|
0001876 | |
High urine protein levels
Protein in urine
[ more ] |
0000093 | ||
Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 | |
Pulmonary fibrosis | 0002206 | ||
Respiratory insufficiency |
Respiratory impairment
|
0002093 | |
Retinopathy |
Noninflammatory retina disease
|
0000488 | |
Decreased body height
Small stature
[ more ] |
0004322 | ||
Tremor |
DiagnosisMaking 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. Newborn Screening
TreatmentThe resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines
FDA-Approved TreatmentsThe 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.
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
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
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