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Tay-Sachs disease

disorder
SNOMED 111385000CUI C0039373

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Abnormality of glycolipid metabolism
Very frequent (80-99%)HP:0010969
GM2-ganglioside accumulation
Very frequent (80-99%)HP:0003495
Muscle degeneration
Very frequent (80-99%)HP:0003202
Muscle weakness
Very frequent (80-99%)HP:0001324
Spasticity, progressive
Very frequent (80-99%)HP:0002191
Abnormal retropulsion test
Frequent (30-79%)HP:0002172
Abnormal thalamic MRI signal intensity
Frequent (30-79%)HP:0012696
Aspiration pneumonia
Frequent (30-79%)HP:0011951
Behavioral changes
Frequent (30-79%)HP:0000708
Clumsiness
Frequent (30-79%)HP:0002312
Deglutition disorder
Frequent (30-79%)HP:0002015
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Difficulty walking up stairs
Frequent (30-79%)HP:0003551
Distal limb muscle weakness due to peripheral neuropathy
Frequent (30-79%)HP:0002460
Excess astrocytes in brain
Frequent (30-79%)HP:0002171
Fine motor skill dysfunction
Frequent (30-79%)HP:0007010
Frequent falls
Frequent (30-79%)HP:0002359
Gait disturbance
Frequent (30-79%)HP:0001288
Hypointensity of cerebral white matter on MRI
Frequent (30-79%)HP:0007103
Impaired vision
Frequent (30-79%)HP:0000505
Incoordination
Frequent (30-79%)HP:0002311
Increased reflexes
Frequent (30-79%)HP:0001347
Lower limb muscle weakness
Frequent (30-79%)HP:0007340
Macular cherry red spot
Frequent (30-79%)HP:0010729
Muscle fasciculation
Frequent (30-79%)HP:0002380
Muscle spasm
Frequent (30-79%)HP:0003394
Poor attention span
Frequent (30-79%)HP:0000736
Psychomotor regression in infants
Frequent (30-79%)HP:0002376
Wasting of quad muscles
Frequent (30-79%)HP:0009050

Related Conditions

B variant hexosaminidase A deficiency(child)
B1 variant hexosaminidase A deficiency(child)
Tay-Sachs disease, variant AB(child)
Recessive hereditary disorder (autosomal)(parent)
Deficiency of beta-N-acetylhexosaminidase isoenzymes(parent)

Quick Facts

SNOMED CT
111385000
UMLS CUI
C0039373
Fully Specified Name
Tay-Sachs disease (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.