Sandhoff disease

disorder

SNOMED 23849003CUI C0036161

Overview

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

Research Evidence

Peer-reviewed studies linked via MeSH term "Sandhoff Disease" from the MEDLINE/PubMed database.

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Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.

[object Object], [object Object], [object Object] · Mov Disord · 2019

PMID: 30726573Meta-AnalysisFull text (PMC)

Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trials.

[object Object], [object Object], [object Object] et al. · Genet Med · 2026

PMID: 41108138RCT

Animal Model Contributions to Congenital Metabolic Disease.

[object Object], [object Object] · Adv Exp Med Biol · 2020

PMID: 32304075ReviewFull text (PMC)

Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders.

[object Object], [object Object], [object Object] · Int J Mol Sci · 2020

PMID: 32961778ReviewFull text (PMC)

Genetics and Therapies for GM2 Gangliosidosis.

[object Object], [object Object], [object Object] · Curr Gene Ther · 2018

PMID: 29618308ReviewFull text (PMC)

Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.

[object Object], [object Object], [object Object] et al. · Mol Neurobiol · 2014

PMID: 24356898Review

[Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].

[object Object] · Yakugaku Zasshi · 2013

PMID: 23370522Review

Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases.

[object Object], [object Object], [object Object] · J Appl Genet · 2007

PMID: 17998597Review

Molecular pathologies of and enzyme replacement therapies for lysosomal diseases.

[object Object], [object Object], [object Object] et al. · CNS Neurol Disord Drug Targets · 2006

PMID: 16918392Review

Development of mammalian artificial chromosomes for the treatment of genetic diseases: Sandhoff and Krabbe diseases.

[object Object], [object Object], [object Object] et al. · Expert Opin Biol Ther · 2005

PMID: 15757381Review

Search all PubMed articles for Sandhoff disease

Research data from MEDLINE/PubMed

Signs & Symptoms

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

Exaggerated startle response

Always present (100%)HP:0002267

Hexosaminidase B low in blood

Always present (100%)HP:0033978

Increased reflexes

Always present (100%)HP:0001347

Psychomotor regression

Always present (100%)HP:0002376

Abnormal glycosphingolipid metabolism

Very frequent (80-99%)HP:0004343

Abnormality of movement

Very frequent (80-99%)HP:0100022

Ataxia

Very frequent (80-99%)HP:0001251

Deafness

Very frequent (80-99%)HP:0000365

Hunched back

Very frequent (80-99%)HP:0002808

Large head

Very frequent (80-99%)HP:0000256

Legal blindness

Very frequent (80-99%)HP:0000618

Macular cherry red spot

Very frequent (80-99%)HP:0010729

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Progressive degeneration of movement

Very frequent (80-99%)HP:0002333

Progressive psychomotor deterioration

Very frequent (80-99%)HP:0007272

Seizures

Very frequent (80-99%)HP:0001250

Central hypotonia

Frequent (30-79%)HP:0001252

Enlarged liver

Frequent (30-79%)HP:0002240

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Large spleen

Frequent (30-79%)HP:0001744

Muscle weakness

Frequent (30-79%)HP:0001324

Myoclonic seizure

Frequent (30-79%)HP:0032794

Puffy cheeks

Frequent (30-79%)HP:0000293

respiratory infections, recurrent

Frequent (30-79%)HP:0002205

Chronic heart failure

Occasional (5-29%)HP:0001635

CNS hypomyelination

Occasional (5-29%)HP:0003429

Skeletal dysplasia

Occasional (5-29%)HP:0002652

Chronic diarrhoea

HP:0002028

Decrease in blood pressure upon standing up

HP:0001278

Related Conditions

Total hexosaminidase deficiency - infantile(child)

Total hexosaminidase deficiency - juvenile(child)

Total hexosaminidase deficiency - adult(child)

Deficiency of beta-N-acetylhexosaminidase isoenzymes(parent)

Quick Facts

SNOMED CT: 23849003
UMLS CUI: C0036161
Fully Specified Name: Sandhoff 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.