TSD
MCID: TYS001
MIFTS: 68

Tay-Sachs Disease (TSD)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Tay-Sachs Disease

MalaCards integrated aliases for Tay-Sachs Disease:

Name: Tay-Sachs Disease 57 12 75 53 25 54 59 74 37 29 55 6 43 44 15 38 40 72
Hexosaminidase a Deficiency 57 12 24 53 25 59 74
Hexa Deficiency 57 53 25 74
Tsd 57 53 25 74
Hexosaminidase Alpha-Subunit Deficiency 53 25 72
Gm2 Gangliosidosis, Type 1 12 53 25
Gm2-Gangliosidosis, Several Forms 57 13
B Variant Gm2 Gangliosidosis 53 25
Sphingolipidosis, Tay-Sachs 53 25
a Gm2 Gangliosidosis That is Characterized the Onset in Infancy of Developmental Retardation, Followed by Paralysis, Dementia and Blindness, with Death in the Second or Third Year of Life and Has_material_basis_in Homozygous or Compound Heterozygous Mutation in the Alpha Subunit of the Hexosaminidase a Gene on Chromosome 15q23. 12
Tay-Sachs Disease Pseudo-Ab Variant 74
Gm2 Gangliosidosis, B, B1 Variant 59
B Variant Gm2-Gangliosidosis 57
Gm2-Gangliosidosis B Variant 74
Tay-Sachs Disease Variant B1 74
Gangliosidosis Gm2 , Type 1 53
Gm2-Gangliosidosis, Type I 57
Hex a Pseudodeficiency 57
Gm2-Gangliosidosis 1 74
Gangliosidoses, Gm2 72
Gm2 Gangliosidosis 24
Hex a Deficiency 24
Gm2g1 74

Characteristics:

Orphanet epidemiological data:

59
tay-sachs disease
Inheritance: Autosomal recessive; Prevalence: 1-5/10000,1-9/1000000 (Europe),1-9/100000 (Portugal),1-9/1000000 (Czech Republic),1-9/1000000 (Australia),1-9/1000000 (Worldwide),1-9/1000000 (Netherlands),1-9/1000000 (Canada),1-9/1000000 (United Arab Emirates),1-9/1000000 (Turkey),1-9/1000000 (Sweden); Age of onset: All ages; Age of death: any age;

OMIM:

57
Miscellaneous:
infantile onset
usually fatal by age 5 years
incidence of 1 in 3,900 births among jewish persons
incidence of 1 in 320,000 births among non-jewish persons

Inheritance:
autosomal recessive


HPO:

32
tay-sachs disease:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:3320
OMIM 57 272800
KEGG 37 H02016
MeSH 44 D013661
NCIt 50 C85184
ICD10 33 E75.02
MESH via Orphanet 45 D013661
ICD10 via Orphanet 34 E75.0
UMLS via Orphanet 73 C0039373 C1848922
Orphanet 59 ORPHA845
UMLS 72 C0039373 C0268274 C1848922

Summaries for Tay-Sachs Disease

NIH Rare Diseases : 53 Tay-Sachs disease is a rare, inherited neurodegenerative disease. People with Tay-Sachs disease do not have enough of an enzyme called beta-hexosaminidase A. The less enzyme a person has, the more severe the disease and the earlier that symptoms appear. There are 3 forms of Tay-Sachs disease, distinguished by the general age of onset: Infantile - the most common severe form, with symptoms appearing in the first few months of life. Symptoms include a loss of skills learned (regression), seizures, and loss of muscle and mental functions. Children with this form do not survive past early childhood. Juvenile - a form with a range of severity, with symptoms appearing any time during childhood (but usually between ages 2 and 5). Symptoms include behavior problems, gradual loss of skills, frequent respiratory infections, and seizures. People with this form typically do not survive past their teenage years. Late onset/adult - the least severe form, with symptoms appearing in late childhood to adulthood. Symptoms may include clumsiness, muscle weakness, psychiatric disorders, and gradual loss of skills, often leading to the need for mobility assistance. Intellect and behavior become impaired in some cases. The lifespan varies from shortened to unaffected. Tay-Sachs disease is caused by mutations in the HEXA gene and inheritance is autosomal recessive. The HEXA gene gives the body instructions to make part of the beta-hexosaminidase A enzyme, which is needed to break down a substance called GM2 ganglioside. When the enzyme is not functional or not made, GM2 ganglioside builds up in the nerve cells (neurons) of the brain and spinal cord, causing the symptoms of the disease. The diagnosis of Tay-Sachs disease involves a blood test that detects absent or very low levels of beta-hexosaminidase A enzyme activity. Molecular genetic testing of the HEXA gene may be used to identify the specific mutations present, or to rule out the disease if a false-positive blood test result is suspected. Currently there is no cure for Tay-Sachs disease, and there are no therapies that slow the progression of the disease. Treatment aims to relieve symptoms and increase quality of life. For example, children with seizures may be treated with anti-seizure medicines. Adequate nutrition and hydration are recommended, to prevent complications. Note: You may also find Tay-Sachs disease referred to as a lysosomal storage disease or a GM2-gangliosidosis because the disease involves a lysosomal enzyme and the buildup of GM2 ganglioside.

MalaCards based summary : Tay-Sachs Disease, also known as hexosaminidase a deficiency, is related to sandhoff disease and metachromatic leukodystrophy, and has symptoms including seizures, tremor and back pain. An important gene associated with Tay-Sachs Disease is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways/superpathways are Glycosaminoglycan degradation and Other glycan degradation. The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are macrocephaly and seizures

Genetics Home Reference : 25 Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood. Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.

OMIM : 57 Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years. (272800)

MedlinePlus : 43 Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems. . Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities decline. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4. The cause is a gene mutation which is most common in Eastern European Ashkenazi Jews. To get the disease, both parents must have the gene. If they do, there is a 25% chance of the child having the disease. A blood test and prenatal tests can check for the gene or the disease. There is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes. NIH: National Institute of Neurological Disorders and Stroke

NINDS : 54 Tay-Sachs disease is an inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body.  It is part of a group of genetic disorders called the GM2 gangliosidoses. Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A. Affected children appear to develop normally until about age 6 months and then begin to show symptoms, including: progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, difficulty with swallowing, seizures that may begin in the child's second year, and "cherry-red" spots in their eyes.  A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. The incidence of Tay-Sachs has been particularly high among people of Eastern European and Askhenazi Jewish descent., as well as in certain French Canadians and Louisiana Cajuns. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.  A very severe form of Tay-Sachs disease is known as Sandhoff disease, which is not limited to any ethnic group.

KEGG : 37
Tay-Sachs disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXA that encodes beta hexosaminidase subunit alpha. In the absence of hexosaminidase A, GM2 ganglioside cannot be hydrolyzed and therefore accumulates primarily in neuronal tissues. This results in progressive neurologic degeneration. Patients with infantile Tay-Sachs disease die before the age of five, whereas patients with the juvenile and adult forms have a delayed onset.

UniProtKB/Swiss-Prot : 74 GM2-gangliosidosis 1: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset).

Wikipedia : 75 Tay-Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and... more...

GeneReviews: NBK1218

Related Diseases for Tay-Sachs Disease

Diseases in the Tay-Sachs Disease family:

Tay-Sachs Disease, B Variant, Juvenile Form Tay-Sachs Disease, B Variant, Infantile Form
Tay-Sachs Disease, B1 Variant Tay-Sachs Disease, B Variant, Adult Form

Diseases related to Tay-Sachs Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 162)
# Related Disease Score Top Affiliating Genes
1 sandhoff disease 33.1 HHEX HEXB HEXA GM2A
2 metachromatic leukodystrophy 30.9 PSAP HEXA ARSA
3 gaucher disease, type i 30.8 PSAP HEXA
4 sphingolipidosis 30.6 PSAP HEXB HEXA GLA CTSA ARSA
5 inherited metabolic disorder 30.0 HEXA GLA ARSA
6 lipid storage disease 29.9 PSAP HEXA GLA ARSA
7 lysosomal storage disease 29.8 HEXB HEXA GLA CTSA ARSA
8 fabry disease 29.3 PSAP NAGA GLA
9 mucolipidosis iv 28.4 PSAP HHEX HEXB HEXA GM2A ETFA
10 tay-sachs disease, b1 variant 12.8
11 gm2-gangliosidosis, ab variant 12.7
12 gm2 gangliosidosis, 0 variant 12.6
13 tay-sachs disease, b variant, juvenile form 12.6
14 tay-sachs disease, b variant, infantile form 12.6
15 tay-sachs disease, b variant, adult form 12.6
16 gm1-gangliosidosis, type i 11.9
17 hypotonia 11.9
18 lipid metabolism disorder 11.5
19 floppy infant syndrome 11.5
20 generalized gangliosidoses 11.5
21 infantile hypotonia 11.5
22 gangliosidosis 11.0
23 gm2 gangliosidosis 10.9
24 cystic fibrosis 10.6
25 ataxia and polyneuropathy, adult-onset 10.6
26 autosomal recessive disease 10.6
27 gaucher's disease 10.6
28 spasticity 10.6
29 tremor 10.5
30 fibrosis of extraocular muscles, congenital, 1 10.5
31 thalassemia 10.5
32 leukodystrophy 10.5
33 sickle cell disease 10.5
34 hyperacusis 10.5
35 pick disease of brain 10.4
36 yemenite deaf-blind hypopigmentation syndrome 10.4
37 beta-thalassemia 10.4
38 stuttering 10.4
39 cerebral lipidosis 10.4
40 gm1 gangliosidosis 10.4
41 dystonia 10.4
42 muscular atrophy 10.4
43 behavioral variant of frontotemporal dementia 10.4
44 chromosomal triplication 10.4
45 precocious puberty 10.4
46 myoclonus 10.4
47 alacrima, achalasia, and mental retardation syndrome 10.3
48 metachromatic leukodystrophy, juvenile form 10.3 PSAP ARSA
49 metachromatic leukodystrophy, late infantile form 10.3 PSAP ARSA
50 metachromatic leukodystrophy, adult form 10.3 PSAP ARSA

Graphical network of the top 20 diseases related to Tay-Sachs Disease:



Diseases related to Tay-Sachs Disease

Symptoms & Phenotypes for Tay-Sachs Disease

Human phenotypes related to Tay-Sachs Disease:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
5 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
6 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
7 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
10 cherry red spot of the macula 59 32 hallmark (90%) Very frequent (99-80%) HP:0010729
11 hemiplegia/hemiparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004374
12 intellectual disability, progressive 59 32 hallmark (90%) Very frequent (99-80%) HP:0006887
13 increased muscle lipid content 59 32 hallmark (90%) Very frequent (99-80%) HP:0009058
14 psychomotor deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002361
15 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
16 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
17 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
18 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
19 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
20 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
21 myotonia 59 32 frequent (33%) Frequent (79-30%) HP:0002486
22 visual impairment 59 Very frequent (99-80%)
23 hypertonia 32 HP:0001276
24 abnormality of movement 59 Very frequent (99-80%)
25 pallor 32 HP:0000980
26 generalized hypotonia 32 HP:0001290
27 exaggerated startle response 32 HP:0002267
28 dementia 32 HP:0000726
29 aspiration 32 HP:0002835
30 poor head control 32 HP:0002421
31 apathy 32 HP:0000741
32 gm2-ganglioside accumulation 32 HP:0003495

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
dementia
poor head control
hypotonia
increased startle response
more
Respiratory Airways:
aspiration

Laboratory Abnormalities:
gm2-ganglioside accumulation
ballooned neurons
hexosaminidase a deficiency

Head And Neck Eyes:
blindness
macular pallor with prominence of fovea centralis (cherry red spot)

Neurologic Behavioral Psychiatric Manifestations:
apathy

Clinical features from OMIM:

272800

UMLS symptoms related to Tay-Sachs Disease:


seizures, tremor, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Tay-Sachs Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 CTSA ETFA NAGA PSAP VIM

MGI Mouse Phenotypes related to Tay-Sachs Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 ARSA CTSA GLA HEXA HEXB HHEX
2 behavior/neurological MP:0005386 10.01 ARSA CTSA GLA GM2A HEXA HEXB
3 immune system MP:0005387 9.92 ARSA CTSA GLA HEXB HHEX NAGA
4 nervous system MP:0003631 9.76 ARSA GLA GM2A HEXA HEXB HHEX
5 liver/biliary system MP:0005370 9.73 CTSA GLA HEXA HEXB HHEX PSAP
6 renal/urinary system MP:0005367 9.35 CTSA GLA HEXA HEXB PSAP
7 vision/eye MP:0005391 9.1 GLA HEXA HEXB HHEX PSAP VIM

Drugs & Therapeutics for Tay-Sachs Disease

Drugs for Tay-Sachs Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2
1-Deoxynojirimycin Investigational Phase 4 19130-96-2 1374
3 Cardiac Glycosides Phase 4
4 Glycoside Hydrolase Inhibitors Phase 4
5 Anti-HIV Agents Phase 4
6 Hypoglycemic Agents Phase 4
7 Anti-Retroviral Agents Phase 4
8 Antiviral Agents Phase 4
9
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
10
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
11
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
13
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
14
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
15
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
16 Alkylating Agents Phase 2, Phase 3
17 Prednisolone acetate Phase 2, Phase 3
18 Methylprednisolone Acetate Phase 2, Phase 3
19 Immunosuppressive Agents Phase 2, Phase 3
20 Antilymphocyte Serum Phase 2, Phase 3
21 Immunologic Factors Phase 2, Phase 3
22 Antirheumatic Agents Phase 2, Phase 3
23 Antineoplastic Agents, Alkylating Phase 2, Phase 3
24
tannic acid Approved Phase 2 1401-55-4
25
alemtuzumab Approved, Investigational Phase 2 216503-57-0
26
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
27
Melphalan Approved Phase 2 148-82-3 460612 4053
28
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
29
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
30
Hydroxyurea Approved Phase 2 127-07-1 3657
31 Anti-Infective Agents Phase 2
32 Antifungal Agents Phase 2
33 Cyclosporins Phase 2
34 Antineoplastic Agents, Immunological Phase 2
35 Dermatologic Agents Phase 2
36 Calcineurin Inhibitors Phase 2
37 Antimetabolites Phase 2
38 Antimetabolites, Antineoplastic Phase 2
39 Nucleic Acid Synthesis Inhibitors Phase 2
40 leucine Phase 2
41
Mycophenolic acid Approved 24280-93-1 446541
42 Anti-Bacterial Agents
43 Antitubercular Agents
44 Antibiotics, Antitubercular

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) Recruiting NCT02030015 Phase 4 miglustat
2 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset GM2 Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)
3 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
5 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
6 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis: Single and Multiple Oral Doses Completed NCT00418847 Phase 2 miglustat
7 Proposed Investigator-Initiated Clinical Trial of Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) Completed NCT01102686 Phase 1, Phase 2 Pyrimethamine;Leucovorin
8 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
9 Effects of N-Acetyl-L-Leucine on GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study Recruiting NCT03759665 Phase 2 IB1001
10 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
11 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
12 A Dose-Escalated, Double-Blind, Placebo-Controlled, Randomized Phase I Clinical Trial of Pyrimethamine in Patients Affected With Chronic GM2 Gangliosidosis (Tay-Sachs or Sandhoff Variants) Withdrawn NCT00679744 Phase 1 Pyrimethamine
13 Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather) Completed NCT01869270
14 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
15 Assessing the Outcomes of Web-based Pre-test Educational Module for Carrier Genetic Screening in Individuals of Ashkenazi Jewish Descent Completed NCT01999257
16 Treatment of High Risk, Inherited Lysosomal and Peroxisomal Disorders by Reduced-Intensity Hematopoietic Cell Transplantation and Low-Dose Total Body Irradiation With Marrow Boosting by Volumetric-Modulated Arc Therapy (VMAT) Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
17 Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency Completed NCT00592540
18 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
19 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298647
20 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
21 A Natural History of Late Onset Tay-Sachs Disease: MGH Site Active, not recruiting NCT02851862

Search NIH Clinical Center for Tay-Sachs Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Tay-Sachs Disease cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: tay-sachs disease

Genetic Tests for Tay-Sachs Disease

Genetic tests related to Tay-Sachs Disease:

# Genetic test Affiliating Genes
1 Tay-Sachs Disease 29 HEXA

Anatomical Context for Tay-Sachs Disease

MalaCards organs/tissues related to Tay-Sachs Disease:

41
Brain, Testes, Eye, Spinal Cord, Bone, Bone Marrow, Retina

Publications for Tay-Sachs Disease

Articles related to Tay-Sachs Disease:

(show top 50) (show all 1147)
# Title Authors PMID Year
1
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients. 38 8 71
2137287 1990
2
Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease. 38 8 71
2973464 1988
3
The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. 38 8 71
2848800 1988
4
A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease. 38 8 71
2837213 1988
5
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 38 4 71
19888064 2009
6
Neuro-ophthalmology of late-onset Tay-Sachs disease (LOTS). 38 4 8
15557512 2004
7
Mutation in GM2-gangliosidosis B1 variant. 8 71
2961848 1988
8
A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease. 38 4 71
2824459 1987
9
Hexosaminidase A deficiency in adults. 38 4 8
2939718 1986
10
cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts. 8 71
6236461 1984
11
Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship. 38 4 8
175770 1976
12
Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. 38 4 8
5793973 1969
13
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. 9 38 8
16352452 2006
14
Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis. 9 38 71
14727180 2004
15
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice. 9 38 8
10196372 1999
16
A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts. 9 38 71
9272736 1997
17
Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles. 9 38 71
8326491 1993
18
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada. 9 38 71
1483696 1992
19
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. 9 38 71
1384323 1992
20
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population. 9 38 71
1322637 1992
21
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. 9 38 71
1301189 1992
22
Novel Tay-Sachs disease mutations from China. 9 38 71
1301190 1992
23
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies. 9 38 71
1301938 1992
24
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch. 9 38 8
1301937 1992
25
Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. 9 38 71
1833974 1991
26
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. 9 38 8
2355960 1990
27
Structural consequences of amino acid substitutions causing Tay-Sachs disease. 38 71
18490185 2008
28
The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis. 9 38 4
15956171 2005
29
Tay-Sachs disease. 38 8
15364698 2004
30
Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor. 38 71
14648242 2004
31
Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. 38 8
12612865 2003
32
Late-onset Tay-Sachs disease as a Friedreich ataxia phenocopy. 38 8
12433276 2002
33
Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. 38 8
11880123 2002
34
Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure. 38 8
11170098 2001
35
Hexosaminidase A Deficiency 38 71
20301397 1999
36
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 38 8
9150157 1997
37
Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. 38 8
9103204 1997
38
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. 38 8
9090523 1997
39
The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease. 38 71
8659543 1996
40
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. 38 8
8747922 1995
41
Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease. 38 8
7610760 1995
42
Preimplantation single-cell analysis of multiple genetic loci by whole-genome amplification. 38 8
7517043 1994
43
Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant. 38 71
8198136 1994
44
Is the presence of two different Tay-Sachs disease mutations in a Cajun population an unexpected observation? 38 71
8488832 1993
45
Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A. 38 71
8257995 1993
46
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. 38 71
8490625 1993
47
The presence of two different infantile Tay-Sachs disease mutations in a Cajun population. 38 71
1307230 1992
48
A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease. 38 71
1415222 1992
49
Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles. 38 71
1387685 1992
50
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 38 71
1532289 1992

Variations for Tay-Sachs Disease

ClinVar genetic disease variations for Tay-Sachs Disease:

6 (show top 50) (show all 252)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HEXA NM_000520.4(HEXA): c.745C> T (p.Arg249Trp) single nucleotide variant Benign, other rs138058578 15:72642919-72642919 15:72350578-72350578
2 HEXA NM_000520.4: c.745C> T single nucleotide variant other
3 HEXA NM_000520.4: c.772G> C single nucleotide variant Pathogenic
4 HEXA NM_000520.4: c.915_917delCTT undetermined variant Pathogenic
5 HEXA NM_000520.6(HEXA): c.571-1G> T single nucleotide variant Pathogenic 15:72643576-72643576 15:72351235-72351235
6 HEXA NM_000520.4: c.1168C> T single nucleotide variant Pathogenic
7 HEXA NM_000520.4: c.1177C> T single nucleotide variant Pathogenic
8 HEXA NM_000520.4: c.1511G> A single nucleotide variant Pathogenic
9 HEXA NM_000520.6(HEXA): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic 15:72668311-72668311 15:72375970-72375970
10 HEXA NM_000520.6(HEXA): c.430C> T (p.Gln144Ter) single nucleotide variant Pathogenic 15:72646061-72646061 15:72353720-72353720
11 HEXA NM_000520.6(HEXA): c.632T> C (p.Phe211Ser) single nucleotide variant Pathogenic rs121907974 15:72643514-72643514 15:72351173-72351173
12 HEXA NM_000520.6(HEXA): c.380T> G (p.Leu127Arg) single nucleotide variant Pathogenic rs121907975 15:72647932-72647932 15:72355591-72355591
13 HEXA NM_000520.6(HEXA): c.173G> A (p.Cys58Tyr) single nucleotide variant Pathogenic rs387906949 15:72668141-72668141 15:72375800-72375800
14 HEXA HEXA, 1-BP INS insertion Pathogenic
15 HEXA NM_000520.6(HEXA): c.540C> G (p.Tyr180Ter) single nucleotide variant Pathogenic rs121907969 15:72645439-72645439 15:72353098-72353098
16 HEXA NM_000520.6(HEXA): c.1073+1G> A single nucleotide variant Pathogenic rs76173977 15:72640388-72640388 15:72348047-72348047
17 HEXA HEXA, 2-BP DEL, CODON 310 deletion Pathogenic
18 HEXA HEXA, 2-BP DEL, TT, CODON 142 deletion Pathogenic
19 HEXA NM_000520.5(HEXA): c.902T> G (p.Met301Arg) single nucleotide variant Pathogenic rs121907977 15:72641504-72641504 15:72349163-72349163
20 HEXA NM_000520.6(HEXA): c.1360G> A (p.Gly454Ser) single nucleotide variant Pathogenic rs121907978 15:72638637-72638637 15:72346296-72346296
21 HEXA NM_000520.6(HEXA): c.116T> G (p.Leu39Arg) single nucleotide variant Pathogenic rs121907979 15:72668198-72668198 15:72375857-72375857
22 HEXA NM_000520.6(HEXA): c.1176G> A (p.Trp392Ter) single nucleotide variant Pathogenic rs267606862 15:72639022-72639022 15:72346681-72346681
23 HEXA HEXA, IVS7, G-A, +1 single nucleotide variant Pathogenic
24 GM2A NM_000405.5(GM2A): c.333del (p.Cys112fs) deletion Pathogenic rs587779405 5:150646381-150646381 5:151266820-151266820
25 HEXA NM_000520.6(HEXA): c.1385A> T (p.Glu462Val) single nucleotide variant Pathogenic rs863225434 15:72638612-72638612 15:72346271-72346271
26 HEXA NM_000520.6(HEXA): c.340G> A (p.Glu114Lys) single nucleotide variant Pathogenic rs748190164 15:72648872-72648872 15:72356531-72356531
27 HEXA NM_000520.6(HEXA): c.1178G> C (p.Arg393Pro) single nucleotide variant Pathogenic rs370266293 15:72639020-72639020 15:72346679-72346679
28 HEXA NM_000520.5(HEXA): c.964G> A (p.Asp322Asn) single nucleotide variant Pathogenic rs772180415 15:72641442-72641442 15:72349101-72349101
29 HEXA NM_000520.6(HEXA): c.718_719insT (p.Lys240fs) insertion Pathogenic rs587779407 15:72642945-72642946 15:72350604-72350605
30 HEXA NM_000520.6(HEXA): c.927_928CT[1] (p.Ser310fs) short repeat Pathogenic 15:72641476-72641477 15:72349135-72349136
31 HEXA NM_000520.6(HEXA): c.1330+1G> A single nucleotide variant Pathogenic rs767041069 15:72638867-72638867 15:72346526-72346526
32 HEXA NM_000520.6(HEXA): c.1454G> A (p.Trp485Ter) single nucleotide variant Pathogenic rs1057519468 15:72637859-72637859 15:72345518-72345518
33 HEXA NM_000520.6(HEXA): c.1432G> A (p.Gly478Arg) single nucleotide variant Pathogenic rs1057519467 15:72637881-72637881 15:72345540-72345540
34 HEXA NM_000520.6(HEXA): c.1121A> C (p.Gln374Pro) single nucleotide variant Pathogenic rs1057519464 15:72640052-72640052 15:72347711-72347711
35 HEXA NM_000520.6(HEXA): c.898_905del (p.Phe300fs) deletion Pathogenic rs1057519463 15:72641501-72641508 15:72349160-72349167
36 HEXA NM_000520.6(HEXA): c.805+1G> C single nucleotide variant Pathogenic rs121907980 15:72642858-72642858 15:72350517-72350517
37 HEXA NM_000520.6(HEXA): c.805G> C (p.Gly269Arg) single nucleotide variant Pathogenic rs121907954 15:72642859-72642859 15:72350518-72350518
38 HEXA NM_000520.6(HEXA): c.524A> C (p.Asp175Ala) single nucleotide variant Pathogenic rs1057519460 15:72645455-72645455 15:72353114-72353114
39 HEXA NM_000520.6(HEXA): c.459+4A> C single nucleotide variant Pathogenic rs1057519459 15:72646028-72646028 15:72353687-72353687
40 HEXA NM_000520.6(HEXA): c.426del (p.Phe142fs) deletion Pathogenic rs1057519458 15:72646065-72646065 15:72353724-72353724
41 HEXA NM_000520.6(HEXA): c.1275_1278dup (p.Tyr427fs) duplication Pathogenic rs1555472406 15:72638920-72638923 15:72346579-72346582
42 HEXA NM_000520.6(HEXA): c.460-1G> T single nucleotide variant Pathogenic rs764343937 15:72645520-72645520 15:72353179-72353179
43 HEXA NM_000520.6(HEXA): c.155C> A (p.Ser52Ter) single nucleotide variant Pathogenic rs987036804 15:72668159-72668159 15:72375818-72375818
44 HEXA NM_000520.6(HEXA): c.346+1G> A single nucleotide variant Pathogenic rs797044432 15:72648865-72648865 15:72356524-72356524
45 HEXA NM_000520.5(HEXA): c.1274_1277dup (p.Tyr427Ilefs) duplication Pathogenic rs387906309 15:72638921-72638924 15:72346580-72346583
46 HEXA NM_000520.6(HEXA): c.1421+1G> C single nucleotide variant Pathogenic rs147324677 15:72638575-72638575 15:72346234-72346234
47 HEXA NM_000520.5(HEXA): c.533G> A (p.Arg178His) single nucleotide variant Pathogenic rs28941770 15:72645446-72645446 15:72353105-72353105
48 HEXA NM_000520.6(HEXA): c.532C> T (p.Arg178Cys) single nucleotide variant Pathogenic rs121907953 15:72645447-72645447 15:72353106-72353106
49 HEXA NM_000520.5(HEXA): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs121907954 15:72642859-72642859 15:72350518-72350518
50 HEXA NM_000520.6(HEXA): c.1510del (p.Arg504fs) deletion Pathogenic rs797044433 15:72637803-72637803 15:72345462-72345462

UniProtKB/Swiss-Prot genetic disease variations for Tay-Sachs Disease:

74 (show all 49)
# Symbol AA change Variation ID SNP ID
1 HEXA p.Pro25Ser VAR_003202
2 HEXA p.Leu39Arg VAR_003203 rs121907979
3 HEXA p.Leu127Arg VAR_003204 rs121907975
4 HEXA p.Arg166Gly VAR_003205
5 HEXA p.Arg170Gln VAR_003206 rs121907957
6 HEXA p.Arg170Trp VAR_003207 rs121907972
7 HEXA p.Arg178Cys VAR_003208 rs121907953
8 HEXA p.Arg178His VAR_003209 rs28941770
9 HEXA p.Arg178Leu VAR_003210 rs28941770
10 HEXA p.Tyr180His VAR_003211 rs28941771
11 HEXA p.Val192Leu VAR_003212 rs387906310
12 HEXA p.Asn196Ser VAR_003213 rs753862880
13 HEXA p.Lys197Thr VAR_003214 rs121907973
14 HEXA p.Val200Met VAR_003215 rs1800429
15 HEXA p.His204Arg VAR_003216 rs121907976
16 HEXA p.Ser210Phe VAR_003217 rs121907961
17 HEXA p.Phe211Ser VAR_003218 rs121907974
18 HEXA p.Gly250Asp VAR_003221 rs121907959
19 HEXA p.Gly250Ser VAR_003222 rs105752113
20 HEXA p.Arg252His VAR_003223 rs762255098
21 HEXA p.Asp258His VAR_003224 rs121907971
22 HEXA p.Gly269Ser VAR_003225 rs121907954
23 HEXA p.Ser279Pro VAR_003226
24 HEXA p.Met301Arg VAR_003227 rs121907977
25 HEXA p.Ile335Phe VAR_003230 rs155547260
26 HEXA p.Val391Met VAR_003232
27 HEXA p.Trp420Cys VAR_003234 rs121907958
28 HEXA p.Gly454Ser VAR_003236 rs121907978
29 HEXA p.Gly455Arg VAR_003237
30 HEXA p.Cys458Tyr VAR_003238
31 HEXA p.Trp474Cys VAR_003239 rs121907981
32 HEXA p.Glu482Lys VAR_003240 rs121907952
33 HEXA p.Leu484Gln VAR_003241
34 HEXA p.Trp485Arg VAR_003242 rs121907968
35 HEXA p.Arg499Cys VAR_003243 rs121907966
36 HEXA p.Arg499His VAR_003244 rs121907956
37 HEXA p.Arg504Cys VAR_003245 rs28942071
38 HEXA p.Arg504His VAR_003246 rs121907955
39 HEXA p.Arg252Leu VAR_017188
40 HEXA p.Asn295Ser VAR_017189 rs199578185
41 HEXA p.Leu127Phe VAR_022439
42 HEXA p.Ser226Phe VAR_022440 rs769866128
43 HEXA p.Gly269Asp VAR_022441
44 HEXA p.Asp314Val VAR_022442 rs155547269
45 HEXA p.Asp322Asn VAR_077498 rs772180415
46 HEXA p.Asp322Tyr VAR_077499 rs772180415
47 HEXA p.Arg393Pro VAR_077500 rs370266293
48 HEXA p.Glu462Val VAR_077501 rs863225434
49 HEXA p.Gly478Arg VAR_077502 rs105751946

Expression for Tay-Sachs Disease

Search GEO for disease gene expression data for Tay-Sachs Disease.

Pathways for Tay-Sachs Disease

Pathways related to Tay-Sachs Disease according to KEGG:

37
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Other glycan degradation hsa00511

GO Terms for Tay-Sachs Disease

Cellular components related to Tay-Sachs Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 VIM PSAP NAGA HEXB HEXA GM2A
2 lysosome GO:0005764 9.56 PSAP NAGA HEXB HEXA GM2A GLA
3 azurophil granule lumen GO:0035578 9.55 HEXB GM2A GLA CTSA ARSA
4 azurophil granule GO:0042582 9.32 HEXB HEXA
5 lysosomal lumen GO:0043202 9.17 PSAP HEXB HEXA GM2A GLA CTSA

Biological processes related to Tay-Sachs Disease according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.67 NAGA HEXB HEXA GLA
2 neuromuscular process controlling balance GO:0050885 9.56 HEXB GM2A
3 metabolic process GO:0008152 9.56 NAGA HEXB HEXA GLA
4 sphingolipid metabolic process GO:0006665 9.55 PSAP GM2A
5 lipid storage GO:0019915 9.54 HEXB GM2A
6 hyaluronan catabolic process GO:0030214 9.52 HEXB HEXA
7 chondroitin sulfate catabolic process GO:0030207 9.51 HEXB HEXA
8 oligosaccharide metabolic process GO:0009311 9.49 NAGA GLA
9 keratan sulfate catabolic process GO:0042340 9.48 HEXB HEXA
10 oligosaccharide catabolic process GO:0009313 9.46 HEXB GM2A
11 positive regulation of catalytic activity GO:0043085 9.43 GM2A CTSA
12 neutrophil degranulation GO:0043312 9.43 PSAP HEXB GM2A GLA CTSA ARSA
13 glycoside catabolic process GO:0016139 9.4 NAGA GLA
14 ganglioside catabolic process GO:0006689 9.32 HEXB GM2A
15 glycosphingolipid metabolic process GO:0006687 9.17 PSAP HEXB HEXA GM2A GLA CTSA
16 glycosylceramide catabolic process GO:0046477 9.16 NAGA GLA

Molecular functions related to Tay-Sachs Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.95 NAGA HEXB HEXA GM2A GLA CTSA
2 protein homodimerization activity GO:0042803 9.83 PSAP NAGA HHEX HEXB GLA
3 enzyme activator activity GO:0008047 9.54 PSAP GM2A CTSA
4 acetylglucosaminyltransferase activity GO:0008375 9.46 HEXB HEXA
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.33 NAGA HEXB GLA
6 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.32 HEXB HEXA
7 alpha-galactosidase activity GO:0004557 9.26 NAGA GLA
8 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 NAGA HEXB HEXA GLA
9 beta-N-acetylhexosaminidase activity GO:0004563 8.8 HEXB HEXA GM2A

Sources for Tay-Sachs Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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