Mucopolysaccharidosis, MPS-III-C
- Synonyms
- Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency; MPS 3C; MPS III C; MUCOPOLYSACCHARIDOSIS, TYPE IIIC; Mucopoly-saccharidosis type 3C; Mucopolysaccharidosis type IIIC (Sanfilippo C); Sanfilippo syndrome C
- 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 (71 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Cellular metachromasia
Cellular metachromasia
- MedGen UID: 871114
- Concept ID: C4025583
- Finding: Finding
Abnormal cellular phenotype
- Cellular metachromasia
- Abnormality of head or neck
- Coarse facial features
Coarse facial features
- MedGen UID: 335284
- Concept ID: C1845847
- Finding: Finding
Abnormality of head or neck
- Everted lower lip vermilion
Everted lower lip vermilion
- MedGen UID: 344003
- Concept ID: C1853246
- Finding: Finding
Abnormality of head or neck
- Coarse facial features
- 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
- 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
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Diarrhea
- Abnormality of the eye
- Rod-cone dystrophy
Rod-cone dystrophy
- MedGen UID: 1632921
- Concept ID: C4551714
- Finding: Disease or Syndrome
Abnormality of the eye
- Rod-cone dystrophy
- 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
- Hypertrichosis
Hypertrichosis
- MedGen UID: 43787
- Concept ID: C0020555
- 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
- Beaking of vertebral bodies
Beaking of vertebral bodies
- MedGen UID: 341588
- Concept ID: C1856599
- Finding: Finding
Abnormality of the musculoskeletal system
- Dense calvaria
Dense calvaria
- MedGen UID: 343213
- Concept ID: C1854834
- Finding: Finding
Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Dysostosis multiplex
Dysostosis multiplex
- MedGen UID: 1851010
- Concept ID: C5848292
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Hernia
Hernia
- MedGen UID: 6816
- Concept ID: C0019270
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint stiffness
Joint stiffness
- MedGen UID: 56403
- Concept ID: C0162298
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
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
- Beaking of vertebral bodies
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
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
- Loss of speech
Loss of speech
- MedGen UID: 107445
- Concept ID: C0542223
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Motor deterioration
Motor deterioration
- MedGen UID: 356495
- Concept ID: C1866284
- 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
- Global developmental delay
- 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
- Growth abnormality
- Growth abnormality
Growth abnormality
- MedGen UID: 808205
- Concept ID: C0262361
- Finding: Finding
Growth abnormality
- Growth abnormality
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