Danon disease
- Synonyms
- ANTOPOL DISEASE; GSD IIb; GSD2B (formerly); Glycogen Storage Disease Type IIb; Glycogen storage cardiomyopathy; Glycogen storage disease limited to the heart; Glycogen storage disease type 2b (formerly); LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY; Lysosomal glycogen storage disease without acid maltase deficiency (formerly); PSEUDOGLYCOGENOSIS II; Pseudoglycogenosis 2; Vacuolar cardiomyopathy and myopathy X-linked
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Matthew RG Taylor
- Eric D Adler
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (127 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of limbs
- Limb muscle weakness
Limb muscle weakness
- MedGen UID: 107956
- Concept ID: C0587246
- Finding: Finding
Abnormality of limbs
- Pes cavus
Pes cavus
- MedGen UID: 675590
- Concept ID: C0728829
- Finding: Congenital Abnormality
Abnormality of limbs
- Limb muscle weakness
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the cardiovascular system
- Atrial arrhythmia
Atrial arrhythmia
- MedGen UID: 39317
- Concept ID: C0085611
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Atrioventricular block
Atrioventricular block
- MedGen UID: 13956
- Concept ID: C0004245
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cardiomegaly
Cardiomegaly
- MedGen UID: 5459
- Concept ID: C0018800
- 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
- Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
- MedGen UID: 2881
- Concept ID: C0007194
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Increased QRS voltage
Increased QRS voltage
- MedGen UID: 909971
- Concept ID: C1112650
- Finding: Finding
Abnormality of the cardiovascular system
- Myocardial fibrosis
Myocardial fibrosis
- MedGen UID: 56239
- Concept ID: C0151654
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Myocardial necrosis
Myocardial necrosis
- MedGen UID: 254841
- Concept ID: C1442837
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Primary dilated cardiomyopathy
Primary dilated cardiomyopathy
- MedGen UID: 2880
- Concept ID: C0007193
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Second degree atrioventricular block
Second degree atrioventricular block
- MedGen UID: 75546
- Concept ID: C0264906
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Severely reduced left ventricular ejection fraction
Severely reduced left ventricular ejection fraction
- MedGen UID: 868396
- Concept ID: C4022790
- Finding: Finding
Abnormality of the cardiovascular system
- Syncope
Syncope
- MedGen UID: 21443
- Concept ID: C0039070
- Finding: Sign or Symptom
Abnormality of the cardiovascular system
- Ventricular tachycardia
Ventricular tachycardia
- MedGen UID: 12068
- Concept ID: C0042514
- Finding: Finding
Abnormality of the cardiovascular system
- Wolff-Parkinson-White pattern
Wolff-Parkinson-White pattern
- MedGen UID: 12162
- Concept ID: C0043202
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Atrial arrhythmia
- Abnormality of the eye
- Visual impairment
Visual impairment
- MedGen UID: 777085
- Concept ID: C3665347
- Finding: Finding
Abnormality of the eye
- Visual impairment
- Abnormality of the musculoskeletal system
- Distal muscle weakness
Distal muscle weakness
- MedGen UID: 140883
- Concept ID: C0427065
- Finding: Finding
Abnormality of the musculoskeletal system
- EMG: myopathic abnormalities
EMG: myopathic abnormalities
- MedGen UID: 867362
- Concept ID: C4021726
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Exercise-induced muscle cramps
Exercise-induced muscle cramps
- MedGen UID: 383715
- Concept ID: C1855578
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized amyotrophy
Generalized amyotrophy
- MedGen UID: 234650
- Concept ID: C1389113
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Lower limb amyotrophy
Lower limb amyotrophy
- MedGen UID: 870475
- Concept ID: C4024921
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Skeletal muscle autophagosome accumulation
Skeletal muscle autophagosome accumulation
- MedGen UID: 1814214
- Concept ID: C5676640
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal muscle weakness
- Abnormality of the nervous system
- Cognitive impairment
Cognitive impairment
- MedGen UID: 90932
- Concept ID: C0338656
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hypokinesia
Hypokinesia
- MedGen UID: 39223
- Concept ID: C0086439
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Cognitive impairment
- Constitutional symptom
- Exercise intolerance
Exercise intolerance
- MedGen UID: 603270
- Concept ID: C0424551
- Finding: Finding
Constitutional symptom
- Exercise intolerance
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