Mucolipidosis iv

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;

Détails

Origin ID

252650;

UMLS CUI

C0238286;

Automatic exact mappings (from CISMeF team)
- Mucolipidosis IV [PASCAL descriptor]
- mucolipin TRP cation channel 1 [ORDO Gene]
- mucolipin TRP cation channel 1 [HGNC gene]
Currated CISMeF NLP mapping
- Ganglioside sialidase deficiency (disorder) [Inactive SNOMED CT concept]
- Mucolipidosis Type IV [NCIt concept]
- Mucolipidosis type 4 [ICD-11 More detail]
- Mucolipidosis type IV [MedDRA Preferred Term]
- Mucolipidosis type IV [ORDO Disease]
- Mucolipidosis type IV (disorder) [SNOMED CT concept]
- ganglioside sialidase deficiency [SNOMED Notion]
- mucolipidoses [MeSH Descriptor]
- mucolipidosis type IV [Disease (Nov.)]
- type IV mucolipidosis [MeSH concept]
DO Cross reference
- mucolipidosis type IV [DO Concept]
Genes related to phenotype
- Mucolipin 1 [OMIM gene]
HPO term(s)
- Abnormal abdomen morphology [HPO term]
- Abnormality of mucopolysaccharide metabolism [HPO term]
- Absent speech [HPO term]
- Achlorhydria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral dysmyelination [HPO term]
- Corneal opacity [HPO term]
- Corneal opacity [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- Developmental stagnation [HPO term]
- Dysplastic corpus callosum [HPO term]
- Dystonia [HPO term]
- Fibrous dysplasia of the cornea [HPO term]
- Ganglioside accumulation [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypergastrinemia [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Lack of language development [HPO term]
- Microcephaly [HPO term]
- Opacification of the corneal stroma [HPO term]
- Optic atrophy [HPO term]
- Photophobia [HPO term]
- Progressive neurologic deterioration [HPO term]
- Retinal degeneration [HPO term]
- Spastic tetraplegia [HPO term]
- Strabismus [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Mucolipidosis type IV [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ganglioside sialidase deficiency (disorder) [Inactive SNOMED CT concept]
- Mucolipidosis Type IV [NCIt concept]
- Mucolipidosis type 4 [ICD-11 More detail]
- Mucolipidosis type IV [MedDRA Preferred Term]
- Mucolipidosis type IV [ORDO Disease]
- Mucolipidosis type IV (disorder) [SNOMED CT concept]
- ganglioside sialidase deficiency [SNOMED Notion]
- mucolipidosis type IV [Disease (Nov.)]
- type IV mucolipidosis [MeSH concept]
Validated automatic mappings to NTBT
- mucolipidosis [Disease (Nov.)]

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