Fabry disease
- Synonyms
- Alpha-galactosidase A deficiency; Anderson-Fabry disease; Angiokeratoma corporis diffusum; Angiokeratoma, diffuse; Atypical Variants of Fabry Disease; Ceramide trihexosidase deficiency; Ceramide trihexosidosis; Classic Fabry Disease; Fabry's disease; GLA deficiency; Hereditary dystopic lipidosis
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
X-linked dominant 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:
- Atul Mehta
- Derralynn A Hughes
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (208 available)
Biochemical Genetics Tests
Molecular Genetics Tests
- Mutation scanning of the entire coding region (1)
- Deletion/duplication analysis (110)
- Sequence analysis of select exons (7)
- Uniparental disomy study (UPD) (1)
- Mutation scanning of select exons (5)
- Sequence analysis of the entire coding region (169)
- Microsatellite instability testing (MSI) (1)
- Targeted variant analysis (39)
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
- Anemia
- Abnormality of limbs
- Abnormality of the hand
Abnormality of the hand
- MedGen UID: 6715
- Concept ID: C0018564
- Finding: Anatomical Abnormality
Abnormality of limbs
- Abnormality of the hand
- Abnormality of metabolism/homeostasis
- Decreased alpha-galactosidase A activity
Decreased alpha-galactosidase A activity
- MedGen UID: 1841963
- Concept ID: C5826719
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating globotriaosylceramide concentration
Elevated circulating globotriaosylceramide concentration
- MedGen UID: 1784101
- Concept ID: C5539707
- Finding: Finding
Abnormality of metabolism/homeostasis
- Lymphedema
Lymphedema
- MedGen UID: 6155
- Concept ID: C0024236
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Decreased alpha-galactosidase A activity
- Abnormality of the cardiovascular system
- Angina pectoris
Angina pectoris
- MedGen UID: 1929
- Concept ID: C0002962
- Finding: Sign or Symptom
Abnormality of the cardiovascular system
- Cardiac arrhythmia
Cardiac arrhythmia
- MedGen UID: 2039
- Concept ID: C0003811
- Finding: Finding
Abnormality of the cardiovascular system
- Congestive heart failure
Congestive heart failure
- MedGen UID: 9169
- Concept ID: C0018802
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Left ventricular hypertrophy
Left ventricular hypertrophy
- MedGen UID: 57442
- Concept ID: C0149721
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Myocardial infarction
Myocardial infarction
- MedGen UID: 10150
- Concept ID: C0027051
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Transient ischemic attack
Transient ischemic attack
- MedGen UID: 853
- Concept ID: C0007787
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Ventricular septal hypertrophy
Ventricular septal hypertrophy
- MedGen UID: 138013
- Concept ID: C0344955
- Finding: Finding
Abnormality of the cardiovascular system
- Angina pectoris
- Abnormality of the digestive system
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
Abnormality of the digestive system
- Nausea
Nausea
- MedGen UID: 10196
- Concept ID: C0027497
- Finding: Sign or Symptom
Abnormality of the digestive system
- Tenesmus
Tenesmus
- MedGen UID: 115914
- Concept ID: C0232726
- Finding: Sign or Symptom
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Diarrhea
- Abnormality of the endocrine system
- Delayed puberty
Delayed puberty
- MedGen UID: 46203
- Concept ID: C0034012
- Finding: Pathologic Function
Abnormality of the endocrine system
- Delayed puberty
- Abnormality of the eye
- Corneal dystrophy
Corneal dystrophy
- MedGen UID: 3619
- Concept ID: C0010036
- Finding: Disease or Syndrome
Abnormality of the eye
- Corneal dystrophy
- Abnormality of the genitourinary system
- Lipiduria
Lipiduria
- MedGen UID: 581076
- Concept ID: C0392178
- Finding: Finding
Abnormality of the genitourinary system
- Proteinuria
Proteinuria
- MedGen UID: 10976
- Concept ID: C0033687
- Finding: Finding
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Urinary mulberry cells
Urinary mulberry cells
- MedGen UID: 1685259
- Concept ID: C5209287
- Finding: Finding
Abnormality of the genitourinary system
- Lipiduria
- Abnormality of the integument
- Angiokeratoma
Angiokeratoma
- MedGen UID: 1542
- Concept ID: C0002985
- Finding: Neoplastic Process
Abnormality of the integument
- Fabry disease
Fabry disease
- MedGen UID: 8083
- Concept ID: C0002986
- Finding: Disease or Syndrome
Abnormality of the integument
- Hypohidrosis
Hypohidrosis
- MedGen UID: 43796
- Concept ID: C0020620
- Finding: Disease or Syndrome
Abnormality of the integument
- Angiokeratoma
- Abnormality of the musculoskeletal system
- Muscle spasm
Muscle spasm
- MedGen UID: 52431
- Concept ID: C0037763
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Muscle spasm
- Abnormality of the nervous system
- Abnormal autonomic nervous system physiology
Abnormal autonomic nervous system physiology
- MedGen UID: 8511
- Concept ID: C0013363
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Fasciculations
Fasciculations
- MedGen UID: 5124
- Concept ID: C0015644
- Finding: Sign or Symptom
Abnormality of the nervous system
- Paresthesia
Paresthesia
- MedGen UID: 14619
- Concept ID: C0030554
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Abnormal autonomic nervous system physiology
- Abnormality of the respiratory system
- Airway obstruction
Airway obstruction
- MedGen UID: 1387
- Concept ID: C0001883
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Airway obstruction
- Constitutional symptom
- Abdominal pain
Abdominal pain
- MedGen UID: 7803
- Concept ID: C0000737
- Finding: Sign or Symptom
Constitutional symptom
- Abdominal pain
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased a-galactosidase A, Fabry Disease, 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, Alpha-galactosidase A (alpha- gal A) Deficiency, 2022
- EuroGentest, 2011Clinical utility gene card for: Fabry disease.
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