Mucopolysaccharidosis, MPS-III-B
- Synonyms
- MPS 3B; MPS III B; MUCOPOLYSACCHARIDOSIS, TYPE IIIB; Mucopoly-saccharidosis type 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B); N-acetyl-alpha-d-glucosaminidase deficiency; NAGLU DEFICIENCY; Sanfilippo syndrome B
- 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
- References
- Chapter Notes
- Authors:
- Victoria F Wagner
- Hope Northrup
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (79 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
- Coarse facial features
- Abnormality of metabolism/homeostasis
- Reduced tissue alpha-N-acetylglucosaminidase activity
Reduced tissue alpha-N-acetylglucosaminidase activity
- MedGen UID: 1053762
- Concept ID: CN376956
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced tissue alpha-N-acetylglucosaminidase activity
- Abnormality of the cardiovascular system
- Asymmetric septal hypertrophy
Asymmetric septal hypertrophy
- MedGen UID: 104705
- Concept ID: C0205700
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cardiomegaly
Cardiomegaly
- MedGen UID: 5459
- Concept ID: C0018800
- Finding: Finding
Abnormality of the cardiovascular system
- Asymmetric septal hypertrophy
- Abnormality of the digestive system
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Diarrhea
- Abnormality of the genitourinary system
- Heparan sulfate excretion in urine
Heparan sulfate excretion in urine
- MedGen UID: 340721
- Concept ID: C1854827
- Finding: Finding
Abnormality of the genitourinary system
- Heparan sulfate excretion in urine
- Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Splenomegaly
- Abnormality of the integument
- Coarse hair
Coarse hair
- MedGen UID: 124454
- Concept ID: C0277959
- Finding: Finding
Abnormality of the integument
- Hirsutism
Hirsutism
- MedGen UID: 42461
- Concept ID: C0019572
- Finding: Disease or Syndrome
Abnormality of the integument
- Synophrys
Synophrys
- MedGen UID: 98132
- Concept ID: C0431447
- Finding: Congenital Abnormality
Abnormality of the integument
- Coarse hair
- Abnormality of the musculoskeletal system
- Dense calvaria
Dense calvaria
- MedGen UID: 343213
- Concept ID: C1854834
- Finding: Finding
Abnormality of the musculoskeletal system
- Dysostosis multiplex
Dysostosis multiplex
- MedGen UID: 1851010
- Concept ID: C5848292
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Joint stiffness
Joint stiffness
- MedGen UID: 56403
- Concept ID: C0162298
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Ovoid thoracolumbar vertebrae
Ovoid thoracolumbar vertebrae
- MedGen UID: 401469
- Concept ID: C1868556
- Finding: Finding
Abnormality of the musculoskeletal system
- Thickened ribs
Thickened ribs
- MedGen UID: 98096
- Concept ID: C0426820
- Finding: Finding
Abnormality of the musculoskeletal system
- Dense calvaria
- Abnormality of the nervous system
- Aggressive behavior
Aggressive behavior
- MedGen UID: 1375
- Concept ID: C0001807
- Finding: Individual Behavior
Abnormality of the nervous system
- Hyperactivity
Hyperactivity
- MedGen UID: 98406
- Concept ID: C0424295
- 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
- Progressive neurologic deterioration
Progressive neurologic deterioration
- MedGen UID: 381506
- Concept ID: C1854838
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Sleep abnormality
Sleep abnormality
- MedGen UID: 52372
- Concept ID: C0037317
- Finding: Finding
Abnormality of the nervous system
- Aggressive behavior
- Abnormality of the respiratory system
- Recurrent upper respiratory tract infections
Recurrent upper respiratory tract infections
- MedGen UID: 154380
- Concept ID: C0581381
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent upper respiratory tract infections
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
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