Preferred Label : Mucolipidosis III gamma;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Mucolipidosis III, Complementation group C; Mucolipidosis III, iranian variant form; Ml iiic; Mucolipidosis iiic; Ml III gamma; Mucolipidosis III, variant form;
Description : Mucolipidosis type III gamma is an autosomal recessive disorder characterized clinically
by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The
disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization,
which results in accumulation of lysosomal substrates (summary by Raas-Rothschild
et al., 2000).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, gamma subunit
gene (GNPTG, 607838.0001);
Laboratory abnormalities : No mucopolysacchariduria; Decreased fibroblast arylsulfatase A; Increased serum beta-hexosaminidase; Increased serum alpha-mannosidase; Increased serum iduronate sulfatase; Increased serum arylsulfatase A.; Decreased fibroblast beta-hexosaminidase; Decreased fibroblast alpha-mannosidase; Decreased fibroblast iduronate sulfatase; Decreased N-acetylglucosamine-1-phosphotransferase (GlcNAc - phosphotransferase) using
lysosomal enzymes; Normal-to-slightly decreased GlcNAc phosphotransferase using artificial substrate
(e.g., alpha-methylmannoside);
Prefixed ID : #252605;
Origin ID : 252605;
UMLS CUI : C1854896;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
Not associated HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)