Disease

mucopolysaccharidosis type IIIC

Name: mucopolysaccharidosis type IIIC
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0111393 mucopolysaccharidosis type IIIC A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. Heparan-alpha-glucosaminide N-acetyltransferase deficiency HGSNAT deficiency MPSIIIC MPS3C Sanfilippo syndrome type C mucopolysaccharidosis type IIIC (Sanfilippo C) Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency Mucopolysaccharidosis type 3C

Definition

A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.

Synonyms

Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
Heparan-alpha-glucosaminide N-acetyltransferase deficiency

Cross References

GARD:7073
ICD10CM:E76.22

Parent Terms

autosomal recessive disease
mucopolysaccharidosis III

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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