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sialidosis type 2

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.

Synonyms

  • ML 1
  • ML1
  • NEU 1 deficiency
  • NEU1 sialidosis
  • Neu deficiency
  • Neu1 deficiency
  • Neug deficiency
  • cherry Red spot--myoclonus syndrome
  • dysmorphic sialidosis
  • dysmorphic sialidosis with renal involvement
  • glycoprotein neuraminidase deficiency
  • glycoproteinosis
  • infantile dysmorphic sialidosis
  • lipomucopolysaccharidosis
  • mucolipidosis 1
  • mucolipidosis I
  • mucolipidosis type 1
  • mucolipidosis type I
  • myoclonus--cherry Red spot syndrome
  • nephrosialidosis
  • neuraminidase 1 deficiency
  • neuraminidase deficiency
  • sialidase deficiency
  • sialidosis
  • sialidosis caused by mutation in NEU1
  • sialidosis type II
  • sialidosis, type 1
  • sialidosis, type 2
  • sialidosis, type I
  • sialidosis, type II
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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MedlinePlus

MedlinePlus has information about this condition that may include a description, frequency, causes, inheritance, and links to more information. The information is written for the public, including patients, caregivers and families. MedlinePlus is a service of the National Library of Medicine (NLM), which is part of the National Institutes of Health (NIH).

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