Gaucher disease type I
- Synonyms
- Acid beta-glucosidase deficiency; GBA DEFICIENCY; GD 1; GD I; Gaucher disease type 1; Gaucher disease, noncerebral juvenile; Gaucher's disease, type 1; Glucocerebrosidase deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Derralynn A Hughes
- Gregory M Pastores
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (71 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Epistaxis
Epistaxis
- MedGen UID: 4996
- Concept ID: C0014591
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Pancytopenia
Pancytopenia
- MedGen UID: 18281
- Concept ID: C0030312
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of limbs
- Erlenmeyer flask deformity of the femurs
Erlenmeyer flask deformity of the femurs
- MedGen UID: 383796
- Concept ID: C1855895
- Finding: Finding
Abnormality of limbs
- Erlenmeyer flask deformity of the femurs
- Abnormality of the cardiovascular system
- Aortic valve stenosis
Aortic valve stenosis
- MedGen UID: 1621
- Concept ID: C0003507
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral regurgitation
Mitral regurgitation
- MedGen UID: 7670
- Concept ID: C0026266
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Pulmonary arterial hypertension
Pulmonary arterial hypertension
- MedGen UID: 425404
- Concept ID: C2973725
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Aortic valve stenosis
- Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
- Abnormality of the eye
- Abnormality of the eye
Abnormality of the eye
- MedGen UID: 1370071
- Concept ID: C4316870
- Finding: Anatomical Abnormality
Abnormality of the eye
- Macular atrophy
Macular atrophy
- MedGen UID: 140841
- Concept ID: C0423421
- Finding: Finding
Abnormality of the eye
- Abnormality of the eye
- Abnormality of the immune system
- Hypersplenism
Hypersplenism
- MedGen UID: 9372
- Concept ID: C0020532
- Finding: Disease or Syndrome
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Hypersplenism
- Abnormality of the integument
- Hyperpigmentation of the skin
Hyperpigmentation of the skin
- MedGen UID: 57992
- Concept ID: C0162834
- Finding: Pathologic Function
Abnormality of the integument
- Hyperpigmentation of the skin
- Abnormality of the musculoskeletal system
- Avascular necrosis
Avascular necrosis
- MedGen UID: 10200
- Concept ID: C0027543
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Pathologic fracture
Pathologic fracture
- MedGen UID: 42095
- Concept ID: C0016663
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Vertebral compression fracture
Vertebral compression fracture
- MedGen UID: 75497
- Concept ID: C0262431
- Finding: Finding
Abnormality of the musculoskeletal system
- Avascular necrosis
- Abnormality of the respiratory system
- Abnormal pulmonary interstitial morphology
Abnormal pulmonary interstitial morphology
- MedGen UID: 1788738
- Concept ID: C5441745
- Finding: Anatomical Abnormality
Abnormality of the respiratory system
- Dyspnea
Dyspnea
- MedGen UID: 3938
- Concept ID: C0013404
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Pulmonary infiltrates
Pulmonary infiltrates
- MedGen UID: 116009
- Concept ID: C0235896
- Finding: Finding
Abnormality of the respiratory system
- Abnormal pulmonary interstitial morphology
- Constitutional symptom
- Bone pain
Bone pain
- MedGen UID: 57489
- Concept ID: C0151825
- Finding: Sign or Symptom
Constitutional symptom
- Bone pain
- Neoplasm
- Multiple myeloma
Multiple myeloma
- MedGen UID: 10122
- Concept ID: C0026764
- Finding: Neoplastic Process
Neoplasm
- Multiple myeloma
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, Gaucher Disease; Decreased beta-glucocerebrosidase activity, 2022
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased ß-glucocerebrosidase, Gaucher disease, 2022
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