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Disease Profile

Sialidosis, type II

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

E77.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Mucolipidosis type 1; Neuraminidase deficiency; Lipomucopolysaccharidosis;

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type II, the more severe type of the disorder, is further divided into congenital, infantile, and juvenile forms.[1] This type of sialidosis often begins during infancy or later during childhood and is characterized by cherry-red macules, mildly coarse facial features, skeletal malformations and mild cognitive impairment.[2] Sialidosis type II is caused by mutations in the NEU1 gene. People with sialidosis type II have mutations that severely reduce or eliminate NEU1 enzyme activity. The condition is inherited in an autosomal recessive pattern.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal macular morphology
0001103
Ascites
Accumulation of fluid in the abdomen
0001541
Coarse facial features
Coarse facial appearance
0000280
Corneal opacity
0007957
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Dysostosis multiplex
0000943
Global developmental delay
0001263
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hepatomegaly
Enlarged liver
0002240
Hydrops fetalis
0001789
Inguinal hernia
0000023
Kyphosis
Hunched back
Round back

[ more ]

0002808
Nephropathy
0000112
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling

[ more ]

0010741
Short stature
Decreased body height
Small stature

[ more ]

0004322
Short thorax
Shorter than typical length between neck and abdomen
0010306
Splenomegaly
Increased spleen size
0001744
Umbilical hernia
0001537
30%-79% of people have these symptoms
Ataxia
0001251
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Osteoporosis
0000939
Pectus carinatum
Pigeon chest
0000768
Seizure
0001250
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Tremor
0001337
5%-29% of people have these symptoms
Abnormality of bone marrow cell morphology
0005561
Dysphonia
Inability to produce voice sounds
0001618
Dyspnea
Trouble breathing
0002094
Flexion contracture
Flexed joint that cannot be straightened
0001371
Muscle weakness
Muscular weakness
0001324
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Bone-marrow foam cells
0004333
Cardiomegaly
Enlarged heart
Increased heart size

[ more ]

0001640
Cardiomyopathy
Disease of the heart muscle
0001638
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cherry red spot of the macula
0010729
Dysmetria
Lack of coordination of movement
0001310
Epiphyseal stippling
Speckled calcifications in end part of bone
0010655
Facial edema
Facial puffiness
Facial swelling

[ more ]

0000282
Hyperreflexia
Increased reflexes
0001347
Increased urinary O-linked sialopeptides
0003461
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Muscular hypotonia
Low or weak muscle tone
0001252
Myoclonus
0001336
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive

[ more ]

0000529
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Sensorineural hearing impairment
0000407
Slurred speech
0001350
Urinary excretion of sialylated oligosaccharides
0012061
Vacuolated lymphocytes
0001922

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Sialidosis, type II. Click on the link to view a sample search on this topic.

          References

          1. Sialidosis. Genetics Home Reference (GHR). 2010; https://ghr.nlm.nih.gov/condition/sialidosis. Accessed 8/13/2015.
          2. Meikle PJ. Sialidosis. National Organization for Rare Disorders (NORD). 2010; https://rarediseases.org/rare-diseases/sialidosis/. Accessed 8/13/2015.