Sandhoff disease
- Synonyms
- Beta-hexosaminidase-beta-subunit deficiency; GM2 gangliosidosis, type 2; GM2-GANGLIOSIDOSIS, TYPE II; HEXOSAMINIDASES A AND B DEFICIENCY; Hexosaminidase A and B deficiency Disease; Sandhoff-Jatzkewitz-Pilz disease; Total hexosaminidase 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:
- Changrui Xiao
- Cynthia Tifft
- Camilo Toro
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (94 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Coarse facial features
Coarse facial features
- MedGen UID: 335284
- Concept ID: C1845847
- Finding: Finding
Abnormality of head or neck
- Macroglossia
Macroglossia
- MedGen UID: 44236
- Concept ID: C0024421
- Finding: Disease or Syndrome
Abnormality of head or neck
- Coarse facial features
- Abnormality of metabolism/homeostasis
- Abnormal glycosphingolipid metabolism
Abnormal glycosphingolipid metabolism
- MedGen UID: 870889
- Concept ID: C4025350
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced beta-hexosaminidase activity
Reduced beta-hexosaminidase activity
- MedGen UID: 1800805
- Concept ID: C5558366
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal glycosphingolipid metabolism
- Abnormality of the cardiovascular system
- Cardiomegaly
Cardiomegaly
- MedGen UID: 5459
- Concept ID: C0018800
- Finding: Finding
Abnormality of the cardiovascular system
- Cherry red spot of the macula
Cherry red spot of the macula
- MedGen UID: 786046
- Concept ID: C2216370
- Finding: Finding
Abnormality of the cardiovascular system
- Cardiomegaly
- Abnormality of the digestive system
- Chronic diarrhea
Chronic diarrhea
- MedGen UID: 96036
- Concept ID: C0401151
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hepatosplenomegaly
Hepatosplenomegaly
- MedGen UID: 9225
- Concept ID: C0019214
- Finding: Sign or Symptom
Abnormality of the digestive system
- Chronic diarrhea
- Abnormality of the eye
- Blindness
Blindness
- MedGen UID: 99138
- Concept ID: C0456909
- Finding: Disease or Syndrome
Abnormality of the eye
- Blindness
- Abnormality of the genitourinary system
- Impotence
Impotence
- MedGen UID: 1720680
- Concept ID: CN208474
- Finding: Finding
Abnormality of the genitourinary system
- Increased urinary N-acetylglucosamine-rich oligosaccharide level
Increased urinary N-acetylglucosamine-rich oligosaccharide level
- MedGen UID: 1054680
- Concept ID: CN376631
- Finding: Finding
Abnormality of the genitourinary system
- Impotence
- Abnormality of the integument
- Hyperhidrosis
Hyperhidrosis
- MedGen UID: 5690
- Concept ID: C0020458
- Finding: Finding
Abnormality of the integument
- Hypohidrosis
Hypohidrosis
- MedGen UID: 43796
- Concept ID: C0020620
- Finding: Disease or Syndrome
Abnormality of the integument
- Hyperhidrosis
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure
- MedGen UID: 141670
- Concept ID: C0494475
- Finding: Sign or Symptom
Abnormality of the nervous system
- CNS hypomyelination
CNS hypomyelination
- MedGen UID: 892446
- Concept ID: C4025616
- Finding: Finding
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Exaggerated startle response
Exaggerated startle response
- MedGen UID: 329357
- Concept ID: C1740801
- Finding: Finding
Abnormality of the nervous system
- Fasciculations
Fasciculations
- MedGen UID: 5124
- Concept ID: C0015644
- Finding: Sign or Symptom
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Impaired temperature sensation
Impaired temperature sensation
- MedGen UID: 866867
- Concept ID: C4021222
- Finding: Finding
Abnormality of the nervous system
- Myoclonic seizure
Myoclonic seizure
- MedGen UID: 1385980
- Concept ID: C4317123
- Finding: Sign or Symptom
Abnormality of the nervous system
- Orthostatic hypotension
Orthostatic hypotension
- MedGen UID: 43803
- Concept ID: C0020651
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Progressive psychomotor deterioration
Progressive psychomotor deterioration
- MedGen UID: 383942
- Concept ID: C1856565
- Finding: Finding
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Upper motor neuron dysfunction
Upper motor neuron dysfunction
- MedGen UID: 333241
- Concept ID: C1839042
- Finding: Pathologic Function
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
- Constitutional symptom
- Episodic abdominal pain
Episodic abdominal pain
- MedGen UID: 814352
- Concept ID: C3808022
- Finding: Finding
Constitutional symptom
- Urinary incontinence
Urinary incontinence
- MedGen UID: 22579
- Concept ID: C0042024
- Finding: Finding
Constitutional symptom
- Episodic abdominal pain
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