Galactosialidosis

Preferred Label : Galactosialidosis;

Symbol : GSL;

CISMeF acronym : GSL; NGBE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Goldberg syndrome; Neuraminidase/beta-galactosidase expression; Lysosomal protective protein deficiency; NGBE; Neuraminidase deficiency with beta-galactosidase deficiency; Protective protein/cathepsin a deficiency; Ppca deficiency; Cathepsin a deficiency;

Description : Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase (611458) and neuraminidase (608272), secondary to a defect in protective protein/cathepsin A (PPCA). All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and rare occurrence of neurologic signs. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival. The majority of reported patients belong to the juvenile/adult group and are mainly of Japanese origin (summary by d'Azzo et al., 2001).;

Inheritance : Autosomal recessive;

Prefixed ID : #256540;

Details

Origin ID

256540;

UMLS CUI

C0268233;

Automatic exact mappings (from CISMeF team)
- Galactosialidosis [MedDRA Preferred Term]
- Second Times Milligram per Milliliter [NCIt concept]
- symbol withdrawn GSL [HGNC gene]
Currated CISMeF NLP mapping
- Combined deficiency of sialidase AND beta galactosidase (disorder) [SNOMED CT concept]
- Galactosialidosis [ICD-11 More detail]
- Galactosialidosis [NCIt concept]
- Galactosialidosis [ORDO Disease]
- Neuraminidase deficiency with beta-galactosidase deficiency [MeSH concept]
- combined deficiency of sialidase and beta galactosidase [SNOMED Notion]
- galactosialidosis [Disease (Nov.)]
- galactosialidosis [DO Concept]
- neuraminidase deficiency with beta-galactosidase deficiency [MeSH Supplementary Concept]
DO Cross reference
- galactosialidosis [DO Concept]
Genes related to phenotype
- Cathepsin a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cherry red spot of the macula [HPO term]
- Coarse facial features [HPO term]
- Conjunctival telangiectasia [HPO term]
- Corneal opacity [HPO term]
- Decreased beta-galactosidase activity [HPO term]
- Dwarfism [HPO term]
- Dysostosis multiplex [HPO term]
- Hearing impairment [HPO term]
- Hemangioma [HPO term]
- Hepatosplenomegaly [HPO term]
- Intellectual disability [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Opacification of the corneal stroma [HPO term]
- Seizure [HPO term]
- Severe short stature [HPO term]
- Visceromegaly [HPO term]
ORDO concept(s)
- Galactosialidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined deficiency of sialidase AND beta galactosidase (disorder) [SNOMED CT concept]
- Galactosialidosis [ORDO Disease]
- Galactosialidosis [NCIt concept]
- Galactosialidosis [ICD-11 More detail]
- Galactosialidosis [MedDRA Preferred Term]
- Neuraminidase deficiency with beta-galactosidase deficiency [MeSH concept]
- combined deficiency of sialidase and beta galactosidase [SNOMED Notion]
- galactosialidosis [Disease (Nov.)]
- galactosialidosis [DO Concept]
- neuraminidase deficiency with beta-galactosidase deficiency [MeSH Supplementary Concept]

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