KEGG   VARIANT: 6448v1
Entry
6448v1                      Variant                                
Name
SGSH deficiency
Type
Loss of function
Gene
SGSH  N-sulphoglucosamine sulphohydrolase isoform 1 precursor [KO:K01565]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605270
Network
nt06012  Glycosaminoglycan degradation
nt06551  Lysosome
Disease
H00130  Mucopolysaccharidosis type III
Reference
PMID:27896117
  Authors
Ribeiro EM, Brusius-Facchin AC, Leistner-Segal S, da Silva CA, Schwartz IV
  Title
Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report.
  Journal
Mol Genet Metab Rep 1:422-424 (2014)
DOI:10.1016/j.ymgmr.2014.09.003
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