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Genetic and Rare Diseases Information Center (GARD)

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Gaucher disease type 1


Other Names for this Disease

  • Acid beta-glucosidase deficiency
  • Gaucher disease, noncerebral juvenile
  • GBA DEFICIENCY
  • GD 1
  • Glucocerebrosidase deficiency
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Symptoms

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What are the signs and symptoms of Gaucher disease type 1?

Although symptoms of Gaucher disease type 1 may vary greatly, the major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), chronic fatigue, lung disease, and bone abnormalities such as bone pain, fractures, and arthritis[1]  Short stature and muscle wasting are occasionally found in patients whose bodies expend a huge amount of energy due to massive hepatosplenomegaly.[2] Very rarely the eyes, kidneys, skin pigment or gastrointestinal tract can be affected. [3]
Last updated: 2/10/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Gaucher disease type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the genital system 90%
Abnormality of the pupil 90%
Anemia 90%
Aseptic necrosis 90%
Bone pain 90%
Cerebral palsy 90%
Constipation 90%
Cranial nerve paralysis 90%
Delayed skeletal maturation 90%
Diaphragmatic paralysis 90%
Hemiplegia/hemiparesis 90%
Hepatomegaly 90%
Increased bone mineral density 90%
Osteolysis 90%
Recurrent fractures 90%
Reduced bone mineral density 90%
Splenomegaly 90%
Thrombocytopenia 90%
Abdominal pain 50%
Abnormality of temperature regulation 50%
Arthralgia 50%
Behavioral abnormality 50%
Bone marrow hypocellularity 50%
Bruising susceptibility 50%
Developmental regression 50%
Diplopia 50%
Feeding difficulties in infancy 50%
Gingival bleeding 50%
Incoordination 50%
Involuntary movements 50%
Kyphosis 50%
Oculomotor apraxia 50%
Ptosis 50%
Respiratory insufficiency 50%
Seizures 50%
Strabismus 50%
Abnormality of coagulation 7.5%
Abnormality of extrapyramidal motor function 7.5%
Abnormality of skin pigmentation 7.5%
Abnormality of the aortic valve 7.5%
Abnormality of the macula 7.5%
Abnormality of the myocardium 7.5%
Abnormality of the pericardium 7.5%
Ascites 7.5%
Biliary tract abnormality 7.5%
Cirrhosis 7.5%
Edema of the lower limbs 7.5%
Hearing impairment 7.5%
Hematuria 7.5%
Hydrocephalus 7.5%
Hydrops fetalis 7.5%
Hypergammaglobulinemia 7.5%
Ichthyosis 7.5%
Leukopenia 7.5%
Limitation of joint mobility 7.5%
Mitral stenosis 7.5%
Muscular hypotonia 7.5%
Opacification of the corneal stroma 7.5%
Osteoarthritis 7.5%
Osteomyelitis 7.5%
Proteinuria 7.5%
Pulmonary fibrosis 7.5%
Pulmonary hypertension 7.5%
Restrictive lung disease 7.5%
Retinopathy 7.5%
Short stature 7.5%
Sudden cardiac death 7.5%
Tremor 7.5%
Ventriculomegaly 7.5%
Pulmonary infiltrates 5%
Abnormality of the eye -
Anemia -
Aseptic necrosis -
Autosomal recessive inheritance -
Bone pain -
Dyspnea -
Epistaxis -
Erlenmeyer flask deformity of the femurs -
Hepatomegaly -
Hyperpigmentation of the skin -
Hypersplenism -
Interstitial pulmonary disease -
Multiple myeloma -
Pancytopenia -
Pathologic fracture -
Pulmonary hypertension -
Splenomegaly -
Thrombocytopenia -
Vertebral compression fractures -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Gaucher disease. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition/gaucher-disease. Accessed 5/3/2011.
  2. Sidransky, E. Gaucher Disease. E-medicine. July 22, 2010; http://emedicine.medscape.com/article/944157-overview. Accessed 2/8/2011.
  3. Haute Autorité de Santé. Gaucher disease: National Diagnosis and Treatment Protocol. OrphaNet. January 2007; http://www.orpha.net/data/patho/Pro/en/GaucherPNDS-FRenPro644.pdf. Accessed 2/3/2011.


Other Names for this Disease
  • Acid beta-glucosidase deficiency
  • Gaucher disease, noncerebral juvenile
  • GBA DEFICIENCY
  • GD 1
  • Glucocerebrosidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.