| Concept UI |
CON00036 (Tree)
|
| Name |
Sanfilippo syndrome C
|
| Aliases |
MPS IIIC
Mucopolysaccharidosis type IIIC
|
| Disease name: Preferred Term |
MUCOPOLYSACCHARIDOSIS TYPE IIIC
|
| Disease name: Synonyms (from OMIM and MeSH) |
MPS IIIC
Mucopolysaccharidosis type 3C
ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
SANFILIPPO SYNDROME C
MPS3C
|
| UMLS CUI |
C0086649
|
| UMLS SAB |
ICD-10-CM
|
| UMLS CODE |
E76.22
|
| OMIM DATA: Gene |
HGSNAT
|
| OMIM DATA: Gene Number |
610453
|
| OMIM DATA: Phenotype Number |
252930
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Bone Diseases, Developmental
- Brain Diseases
- Child Behavior Disorders
- Communication Disorders
- Craniofacial Abnormalities
- Demyelinating Diseases
- Developmental Disabilities
- Diarrhea
- Dwarfism (Short stature disorder)
- Dyskinesias
- Dysostoses (Dysostosis multiplex)
- Ear Diseases
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Hepatomegaly
- Hereditary Central Nervous System Demyelinating Diseases
- Hernia, Abdominal
- Hernia, Inguinal
- Hernia, Umbilical
- Hernia, Ventral
- Hydrocephalus
- Intellectual Disability (Mental Retardation)
- Intracranial Hypertension
- Joint Diseases
- Language Disorders
- Learning Disorders
- Liver Diseases
- Macrocephaly
- Malformations of Cortical Development
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Movement Disorders
- Musculoskeletal Diseases
- Nervous System Diseases
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Otitis
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Seizures
- Signs and Symptoms
- Signs and Symptoms, Digestive
- Sleep Disorders
- Speech Disorders
- Stomatognathic System Abnormalities
- Vision Disorders
- Vision, Low
- Epilepsy
|
|
References
|
- Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.
- Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses.
- Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
88
|