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GTR Home > Conditions/Phenotypes > Tay-Sachs disease, variant AB

Tay-Sachs disease, variant AB

Synonyms
GM2 Activator Deficiency; Gm2-gangliosidosis, ab variant

Summary

Excerpted from the GeneReview: GM2 Activator Deficiency
Acute infantile GM2 activator deficiency is a neurodegenerative disorder in which infants, who are generally normal at birth, have progressive weakness and slowing of developmental progress between ages four and 12 months. An ensuing developmental plateau is followed by progressively rapid developmental regression. By the second year of life decerebrate posturing, difficulty in swallowing, and worsening seizures lead to an unresponsive vegetative state. Death usually occurs between ages two and three years.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Changrui Xiao
Camilo Toro
Cyndi Tifft
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Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GM2-AP, GM2AP, SAP-3, GM2A
    Summary: ganglioside GM2 activator

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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