Preferred Label : Mucolipidosis iv;
Symbol : ML4;
CISMeF acronym : ML4;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : SIALOLIPIDOSIS; Ml iv;
Description : Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder
characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal
hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder
results from a defect in transport along the lysosomal pathway, affecting membrane
sorting and/or late steps of endocytosis, which causes intracellular accumulation
of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has
been made are Ashkenazi Jews, including severely affected and mildly affected patients
(Chen et al., 1998).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutations in the mucolipin-1 gene (MCOLN1, 605248.0001);
Laboratory abnormalities : Skin fibroblasts contain cytoplasmic membrane-bound granular inclusions; Cytoplasmic lamellar concentric inclusions; Inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides,
mucopolysaccharides; Normal lysosomal hydrolases; Increased serum gastrin; Increased urinary phospholipids;
Prefixed ID : #252650;
Origin ID : 252650;
UMLS CUI : C0238286;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT