GM2G1
MCID: TYS001
MIFTS: 70

Tay-Sachs Disease (GM2G1)

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 38 12 76 53 25 54 59 75 37 29 55 6 43 44 15 40 73
Hexosaminidase a Deficiency 57 12 24 53 25 59 75
Hexa Deficiency 57 53 25 75
Tsd 57 53 25 75
Hexosaminidase Alpha-Subunit Deficiency 53 25 73
Gm2-Gangliosidosis, Several Forms 57 13
B Variant Gm2 Gangliosidosis 53 25
Sphingolipidosis, Tay-Sachs 53 25
Gm2 Gangliosidosis, Type 1 53 25
Gm2 Gangliosidosis 24 55
Tay-Sachs Disease Pseudo-Ab Variant 75
Gm2 Gangliosidosis, B, B1 Variant 59
B Variant Gm2-Gangliosidosis 57
Gm2-Gangliosidosis B Variant 75
Tay-Sachs Disease Variant B1 75
Gangliosidosis Gm2 , Type 1 53
Gm2-Gangliosidosis, Type I 57
Hex a Pseudodeficiency 57
Gm2-Gangliosidosis 1 75
Gangliosidoses, Gm2 73
Disease, Tay-Sachs 12
Taysachs Disease 76
Hex a Deficiency 24
Gm2g1 75

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
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Tay-Sachs Disease

NIH Rare Diseases : 53 Tay-Sachs disease is a rare, inheritedneurodegenerative 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 gangliosidosis gm2, 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 spinal cord, 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.

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.

UniProtKB/Swiss-Prot : 75 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 : 76 Tay�??Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain... 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 86)
# Related Disease Score Top Affiliating Genes
1 sandhoff disease 32.8 GM2A HEXA HEXB HHEX
2 gangliosidosis gm2 31.3 CTSA ETFA GLB1 GM2A HEXA HEXB
3 sphingolipidosis 31.3 ARSA CTSA GLB1 HEXA HEXB PSAP
4 metachromatic leukodystrophy 30.7 ARSA HEXA PSAP
5 cerebral lipidosis 30.5 GLB1 HEXA
6 motor neuron disease 29.7 HEXA HEXB SMN1
7 gangliosidosis gm1 29.7 ARSA CTSA GLB1 HEXA NEU1 PSAP
8 lysosomal storage disease 29.4 ARSA CTSA GLB1 HEXA HEXB NEU1
9 tay-sachs disease, b1 variant 12.6
10 gm2 gangliosidosis, 0 variant 12.5
11 tay-sachs disease, b variant, juvenile form 12.4
12 tay-sachs disease, b variant, infantile form 12.4
13 tay-sachs disease, b variant, adult form 12.4
14 gm2-gangliosidosis, ab variant 12.4
15 gm1-gangliosidosis, type i 11.4
16 lipid metabolism disorder 11.4
17 hypotonia 11.4
18 infantile hypotonia 11.4
19 floppy infant syndrome 11.4
20 generalized gangliosidoses 11.4
21 cystic fibrosis 10.6
22 leukodystrophy 10.4
23 sickle cell disease 10.4
24 pick disease of brain 10.3
25 beta-thalassemia 10.3
26 thalassemia 10.3
27 gaucher's disease 10.3
28 precocious puberty 10.3
29 depression 10.3
30 alzheimer disease 10.2
31 hexosaminidase c 10.2
32 prader-willi syndrome 10.2
33 schizophrenia 10.2
34 friedreich ataxia 1 10.2
35 phenylketonuria 10.2
36 fabry disease 10.2
37 macular degeneration, age-related, 1 10.2
38 polyglucosan body myopathy 1 with or without immunodeficiency 10.2
39 niemann-pick disease 10.2
40 thrombocytopenia 10.2
41 autosomal recessive disease 10.2
42 ptosis 10.2
43 epilepsy 10.2
44 peripheral nervous system disease 10.2
45 neuropathy 10.2
46 achalasia 10.2
47 encephalitis 10.2
48 central precocious puberty 10.2
49 hydrocephalus, normal-pressure 10.2
50 hydrocephalus 10.2

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



Diseases related to Tay-Sachs Disease

Symptoms & Phenotypes for Tay-Sachs Disease

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:
ballooned neurons
gm2-ganglioside accumulation
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

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 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
5 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
6 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
7 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
8 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
9 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
12 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
13 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
14 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
15 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
16 cherry red spot of the macula 59 32 hallmark (90%) Very frequent (99-80%) HP:0010729
17 myotonia 59 32 frequent (33%) Frequent (79-30%) HP:0002486
18 hemiplegia/hemiparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004374
19 intellectual disability, progressive 59 32 hallmark (90%) Very frequent (99-80%) HP:0006887
20 increased muscle lipid content 59 32 hallmark (90%) Very frequent (99-80%) HP:0009058
21 psychomotor deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002361
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 dementia 32 HP:0000726
27 aspiration 32 HP:0002835
28 generalized hypotonia 32 HP:0001290
29 apathy 32 HP:0000741
30 poor head control 32 HP:0002421
31 exaggerated startle response 32 HP:0002267
32 gm2-ganglioside accumulation 32 HP:0003495

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 GLB1 PSAP VIM

MGI Mouse Phenotypes related to Tay-Sachs Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ARSA CTSA GLB1 GM2A HEXA HEXB
2 homeostasis/metabolism MP:0005376 10.09 ARSA CTSA GLB1 HEXA HEXB HHEX
3 hematopoietic system MP:0005397 10.06 ARSA CTSA GLB1 HEXB HHEX NEU1
4 immune system MP:0005387 10.01 ARSA CTSA GLB1 HEXB HHEX NEU1
5 nervous system MP:0003631 9.97 ARSA GLB1 GM2A HEXA HEXB HHEX
6 liver/biliary system MP:0005370 9.91 CTSA GLB1 HEXA HEXB HHEX NEU1
7 renal/urinary system MP:0005367 9.73 CTSA GLB1 HEXA HEXB NEU1 PSAP
8 reproductive system MP:0005389 9.63 CTSA GLB1 HEXA HEXB PSAP VIM
9 respiratory system MP:0005388 9.35 CTSA HHEX NEU1 PSAP VIM
10 vision/eye MP:0005391 9.1 HEXA HEXB HHEX NEU1 PSAP VIM

Drugs & Therapeutics for Tay-Sachs Disease

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

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4,Phase 3,Phase 2 72599-27-0 51634
2
1-Deoxynojirimycin Experimental, Investigational Phase 4,Phase 3,Phase 2 19130-96-2 1374
3 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2
4 Antiviral Agents Phase 4,Phase 3,Phase 2
5 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
6 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
7 Anti-HIV Agents Phase 4,Phase 3,Phase 2
8 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
9 Cardiac Glycosides Phase 4,Phase 3,Phase 2
10
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
11
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
12
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
13
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
14
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
15
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
16
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Prednisolone acetate Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
19 Methylprednisolone acetate Phase 2, Phase 3
20 Alkylating Agents Phase 2, Phase 3,Not Applicable
21 Immunologic Factors Phase 2, Phase 3,Not Applicable
22 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
23 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
24 Antilymphocyte Serum Phase 2, Phase 3
25
leucovorin Approved Phase 1, Phase 2,Phase 2 58-05-9 6006 143
26
Pyrimethamine Approved, Investigational, Vet_approved Phase 1, Phase 2 58-14-0 4993
27
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
28
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
29 tannic acid Approved Phase 2,Not Applicable
30
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
31
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
32
Hydroxyurea Approved Phase 2 127-07-1 3657
33
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
35 Vitamin B9 Phase 1, Phase 2
36 Folic Acid Antagonists Phase 1, Phase 2
37 Vitamin B Complex Phase 1, Phase 2
38 Antiparasitic Agents Phase 1, Phase 2
39 Antimalarials Phase 1, Phase 2
40 Folate Phase 1, Phase 2
41 Antiprotozoal Agents Phase 1, Phase 2
42 Calcineurin Inhibitors Phase 2,Not Applicable
43 Antifungal Agents Phase 2,Not Applicable
44 Dermatologic Agents Phase 2,Not Applicable
45 Antimetabolites, Antineoplastic Phase 2,Not Applicable
46 Cyclosporins Phase 2,Not Applicable
47 Antimetabolites Phase 2,Not Applicable
48 Nucleic Acid Synthesis Inhibitors Phase 2
49
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
50 Antitubercular Agents Not Applicable

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
2 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)
3 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
5 Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) Completed NCT01102686 Phase 1, Phase 2 Pyrimethamine;Leucovorin
6 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis Completed NCT00418847 Phase 2 miglustat
7 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
8 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
9 N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease) Not yet recruiting NCT03759665 Phase 2 IB1001
10 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
11 A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis Withdrawn NCT00679744 Phase 1 Pyrimethamine
12 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
13 Gene Therapy for Tay-Sachs Disease Completed NCT01869270
14 Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. Completed NCT01999257 Not Applicable
15 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
16 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
17 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
18 Biomarker for Gangliosidosis: BioGM1 / BioGM2 Recruiting NCT02298647
19 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
20 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
21 A Natural History of Late Onset Tay-Sachs Disease 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, Spinal Cord, Eye, Bone, Bone Marrow, Retina

Publications for Tay-Sachs Disease

Articles related to Tay-Sachs Disease:

(show top 50) (show all 543)
# Title Authors Year
1
Prenatal Diagnosis of Tay-Sachs Disease. ( 30506202 )
2019
2
Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease. ( 28974375 )
2018
3
Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. ( 29537064 )
2018
4
Presentation of central precocious puberty in two patients with Tay-Sachs disease. ( 29943104 )
2018
5
Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India. ( 29973161 )
2018
6
Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene. ( 30006889 )
2018
7
Magnetic resonance imaging findings in Tay-Sachs disease. ( 30038128 )
2018
8
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease. ( 30220252 )
2018
9
Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease. ( 30341570 )
2018
10
New Approaches to Tay-Sachs Disease Therapy. ( 30524313 )
2018
11
AAV gene therapy in a sheep model of Tay-Sachs disease. ( 28922945 )
2017
12
In silico analyses of essential interactions of iminosugars with the Hex A active site and evaluation of their pharmacological chaperone effects for Tay-Sachs disease. ( 28959811 )
2017
13
Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population. ( 28503624 )
2017
14
Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease. ( 29214523 )
2017
15
Late-onset Tay-Sachs disease. ( 28739864 )
2017
16
Clinical, biochemical, and molecular findings in a Colombian patient with Tay-Sachs disease. ( 26874567 )
2016
17
Identification of a patient affected by "Juvenile-chronic" Tay Sachs disease in South Italy. ( 27351546 )
2016
18
Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations. ( 27033294 )
2016
19
Tay-Sachs disease mutations in HEXA target the I+ chain of hexosaminidase A to endoplasmic reticulum-associated degradation. ( 27682588 )
2016
20
Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient. ( 27879213 )
2016
21
CT and MRI findings in a case of infantile form of GM2 gangliosidosis: Tay-Sachs disease. ( 27841233 )
2016
22
NOVEL VECTOR DESIGN AND HEXOSAMINIDASE VARIANT ENABLING SELF-COMPLEMENTARY AAV FOR THE TREATMENT OF TAY-SACHS DISEASE. ( 27197548 )
2016
23
Mortality incidence estimation using federal death certificate and natality data with an application to Tay-Sachs disease. ( 26080753 )
2015
24
Thalamic T2 hypointensity: a diagnostic clue for Tay-Sachs disease. ( 26338066 )
2015
25
Zygosity Diagnosis: When Physicians and DNA Disagree/Twin Research: Sex-Discordant Chimeric Twins; Unrelated Bone Marrow Transplantation in Infant Twins With Congenital Amegakaryotic Thrombocytopenia; Twin Study of Attractiveness to Mosquitoes; Twins Coping With Crisis/Media Highlights: The Less Favored Twin; Paternity Issues; Twins With Late-Onset Tay-Sachs Disease; Triplets at MIT. ( 26323370 )
2015
26
Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. ( 26264938 )
2015
27
Tay-Sachs disease: current perspectives from Australia. ( 25653550 )
2015
28
Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene. ( 25860343 )
2015
29
Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq. ( 25287655 )
2015
30
Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience. ( 24923490 )
2015
31
Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings. ( 30363497 )
2015
32
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. ( 27896118 )
2014
33
GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series). ( 25143775 )
2014
34
Fundus autofluorescence in Tay-Sachs disease. ( 24852271 )
2014
35
The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis. ( 25606403 )
2014
36
Choroidal coloboma in a case of tay-sachs disease. ( 25295204 )
2014
37
Correlation of augmented startle reflex with brainstem electrophysiological responses in Tay-Sachs disease. ( 24534057 )
2014
38
Three novel mutations in Iranian patients with Tay-Sachs disease. ( 24518553 )
2014
39
Atypical presentation of Late-Onset Tay-Sachs Disease. ( 24327357 )
2013
40
High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up. ( 23893770 )
2013
41
GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. ( 23266199 )
2013
42
Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews. ( 23230938 )
2012
43
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. ( 22723944 )
2012
44
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation. ( 22441121 )
2012
45
Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population. ( 21796138 )
2011
46
Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide. ( 21967858 )
2011
47
Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease. ( 22205997 )
2011
48
Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421a88+a881Ga88>a88C mutation in individuals with South African heritage. ( 22109873 )
2011
49
Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay-Sachs disease. ( 19278800 )
2010
50
Assessing the potential success of cystic fibrosis carrier screening: lessons learned from Tay-Sachs disease and beta-thalassemia. ( 19864874 )
2010

Variations for Tay-Sachs Disease

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

75 (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
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
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

ClinVar genetic disease variations for Tay-Sachs Disease:

6 (show top 50) (show all 452)
# Gene Variation Type Significance SNP ID Assembly Location
1 HEXA NM_000520.5(HEXA): c.1274_1277dup (p.Tyr427Ilefs) duplication Pathogenic rs387906309 GRCh37 Chromosome 15, 72638921: 72638924
2 HEXA NM_000520.5(HEXA): c.1274_1277dup (p.Tyr427Ilefs) duplication Pathogenic rs387906309 GRCh38 Chromosome 15, 72346580: 72346583
3 HEXA NM_000520.5(HEXA): c.1421+1G> C single nucleotide variant Pathogenic rs147324677 GRCh37 Chromosome 15, 72638575: 72638575
4 HEXA NM_000520.5(HEXA): c.1421+1G> C single nucleotide variant Pathogenic rs147324677 GRCh38 Chromosome 15, 72346234: 72346234
5 HEXA NM_000520.5(HEXA): c.-207-2357_253+5128delinsG indel Pathogenic/Likely pathogenic GRCh38 Chromosome 15, 72370592: 72378536
6 HEXA NM_000520.5(HEXA): c.-207-2357_253+5128delinsG indel Pathogenic/Likely pathogenic GRCh37 Chromosome 15, 72662933: 72670877
7 HEXA NM_000520.5(HEXA): c.1444G> A (p.Glu482Lys) single nucleotide variant Likely pathogenic rs121907952 GRCh37 Chromosome 15, 72637869: 72637869
8 HEXA NM_000520.5(HEXA): c.1444G> A (p.Glu482Lys) single nucleotide variant Likely pathogenic rs121907952 GRCh38 Chromosome 15, 72345528: 72345528
9 HEXA NM_000520.5(HEXA): c.346+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs797044432 GRCh38 Chromosome 15, 72356524: 72356524
10 HEXA NM_000520.5(HEXA): c.346+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs797044432 GRCh37 Chromosome 15, 72648865: 72648865
11 HEXA NM_000520.5(HEXA): c.1510delC (p.Arg504Alafs) deletion Pathogenic rs797044433 GRCh38 Chromosome 15, 72345462: 72345462
12 HEXA NM_000520.5(HEXA): c.1510delC (p.Arg504Alafs) deletion Pathogenic rs797044433 GRCh37 Chromosome 15, 72637803: 72637803
13 HEXA NM_000520.5(HEXA): c.1511G> A (p.Arg504His) single nucleotide variant Likely pathogenic rs121907955 GRCh37 Chromosome 15, 72637802: 72637802
14 HEXA NM_000520.5(HEXA): c.1511G> A (p.Arg504His) single nucleotide variant Likely pathogenic rs121907955 GRCh38 Chromosome 15, 72345461: 72345461
15 HEXA NM_000520.5(HEXA): c.533G> A (p.Arg178His) single nucleotide variant Pathogenic rs28941770 GRCh37 Chromosome 15, 72645446: 72645446
16 HEXA NM_000520.5(HEXA): c.533G> A (p.Arg178His) single nucleotide variant Pathogenic rs28941770 GRCh38 Chromosome 15, 72353105: 72353105
17 HEXA NM_000520.5(HEXA): c.532C> T (p.Arg178Cys) single nucleotide variant Pathogenic rs121907953 GRCh37 Chromosome 15, 72645447: 72645447
18 HEXA NM_000520.5(HEXA): c.532C> T (p.Arg178Cys) single nucleotide variant Pathogenic rs121907953 GRCh38 Chromosome 15, 72353106: 72353106
19 HEXA NM_000520.5(HEXA): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs121907954 GRCh37 Chromosome 15, 72642859: 72642859
20 HEXA NM_000520.5(HEXA): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs121907954 GRCh38 Chromosome 15, 72350518: 72350518
21 HEXA NM_000520.5(HEXA): c.1496G> A (p.Arg499His) single nucleotide variant Conflicting interpretations of pathogenicity rs121907956 GRCh37 Chromosome 15, 72637817: 72637817
22 HEXA NM_000520.5(HEXA): c.1496G> A (p.Arg499His) single nucleotide variant Conflicting interpretations of pathogenicity rs121907956 GRCh38 Chromosome 15, 72345476: 72345476
23 HEXA NM_000520.5(HEXA): c.509G> A (p.Arg170Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121907957 GRCh37 Chromosome 15, 72645470: 72645470
24 HEXA NM_000520.5(HEXA): c.509G> A (p.Arg170Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121907957 GRCh38 Chromosome 15, 72353129: 72353129
25 HEXA NM_000520.5(HEXA): c.1260G> C (p.Trp420Cys) single nucleotide variant Pathogenic rs121907958 GRCh37 Chromosome 15, 72638938: 72638938
26 HEXA NM_000520.5(HEXA): c.1260G> C (p.Trp420Cys) single nucleotide variant Pathogenic rs121907958 GRCh38 Chromosome 15, 72346597: 72346597
27 HEXA NM_000520.5(HEXA): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs121907962 GRCh37 Chromosome 15, 72647903: 72647903
28 HEXA NM_000520.5(HEXA): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs121907962 GRCh38 Chromosome 15, 72355562: 72355562
29 HEXA NM_000520.5(HEXA): c.1177C> T (p.Arg393Ter) single nucleotide variant Pathogenic rs121907963 GRCh37 Chromosome 15, 72639021: 72639021
30 HEXA NM_000520.5(HEXA): c.1177C> T (p.Arg393Ter) single nucleotide variant Pathogenic rs121907963 GRCh38 Chromosome 15, 72346680: 72346680
31 HEXA NM_000520.5(HEXA): c.1510C> T (p.Arg504Cys) single nucleotide variant Likely pathogenic rs28942071 GRCh37 Chromosome 15, 72637803: 72637803
32 HEXA NM_000520.5(HEXA): c.1510C> T (p.Arg504Cys) single nucleotide variant Likely pathogenic rs28942071 GRCh38 Chromosome 15, 72345462: 72345462
33 HEXA HEXA, IVS4, G-T, -1 single nucleotide variant Pathogenic
34 HEXA NM_000520.5(HEXA): c.629C> T (p.Ser210Phe) single nucleotide variant Pathogenic rs121907961 GRCh37 Chromosome 15, 72643517: 72643517
35 HEXA NM_000520.5(HEXA): c.629C> T (p.Ser210Phe) single nucleotide variant Pathogenic rs121907961 GRCh38 Chromosome 15, 72351176: 72351176
36 HEXA HEXA, 5-BP DEL, TCTCC, IVS9 deletion Pathogenic
37 HEXA HEXA, 2-BP DEL, TG, EX5 deletion Pathogenic
38 HEXA NM_000520.5(HEXA): c.78G> A (p.Trp26Ter) single nucleotide variant Pathogenic rs121907964 GRCh37 Chromosome 15, 72668236: 72668236
39 HEXA NM_000520.5(HEXA): c.78G> A (p.Trp26Ter) single nucleotide variant Pathogenic rs121907964 GRCh38 Chromosome 15, 72375895: 72375895
40 HEXA NM_000520.5(HEXA): c.533G> T (p.Arg178Leu) single nucleotide variant Pathogenic rs28941770 GRCh37 Chromosome 15, 72645446: 72645446
41 HEXA NM_000520.5(HEXA): c.533G> T (p.Arg178Leu) single nucleotide variant Pathogenic rs28941770 GRCh38 Chromosome 15, 72353105: 72353105
42 HEXA HEXA, IVS2, G-A, +1 single nucleotide variant Pathogenic
43 HEXA NM_000520.5(HEXA): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121907965 GRCh37 Chromosome 15, 72668313: 72668313
44 HEXA NM_000520.5(HEXA): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121907965 GRCh38 Chromosome 15, 72375972: 72375972
45 HEXA NM_000520.5(HEXA): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121907966 GRCh37 Chromosome 15, 72637818: 72637818
46 HEXA NM_000520.5(HEXA): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121907966 GRCh38 Chromosome 15, 72345477: 72345477
47 HEXA NM_000520.5(HEXA): c.1453T> C (p.Trp485Arg) single nucleotide variant Uncertain significance rs121907968 GRCh37 Chromosome 15, 72637860: 72637860
48 HEXA NM_000520.5(HEXA): c.1453T> C (p.Trp485Arg) single nucleotide variant Uncertain significance rs121907968 GRCh38 Chromosome 15, 72345519: 72345519
49 HEXA HEXA, 1-BP INS insertion Pathogenic
50 HEXA NM_000520.5(HEXA): c.540C> G (p.Tyr180Ter) single nucleotide variant Pathogenic rs121907969 GRCh37 Chromosome 15, 72645439: 72645439

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ARSA CTSA ETFA GLB1 GM2A HEXA
2
Show member pathways
13.63 ARSA CTSA GLB1 GM2A HEXB NEU1
3
Show member pathways
11.96 ARSA CTSA GLB1 GM2A HEXA HEXB
4
Show member pathways
11.92 CTSA GLB1 NEU1
5
Show member pathways
11.49 GLB1 HEXA HEXB
6 11.32 ARSA CTSA GLB1 GM2A HEXA HEXB
7
Show member pathways
11.05 HEXA HEXB
8
Show member pathways
10.94 GLB1 HEXA HEXB
9
Show member pathways
10.73 GLB1 HEXA HEXB
10 10.71 GLB1 HEXA HEXB NEU1

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 region GO:0005576 9.91 ARSA CTSA GLB1 GM2A HEXB NEU1
2 extracellular exosome GO:0070062 9.91 ARSA CTSA GLB1 GM2A HEXA HEXB
3 lysosomal membrane GO:0005765 9.58 CTSA NEU1 PSAP
4 lysosome GO:0005764 9.56 ARSA CTSA GLB1 GM2A HEXA HEXB
5 azurophil granule lumen GO:0035578 9.55 ARSA CTSA GLB1 GM2A HEXB
6 azurophil granule GO:0042582 9.32 HEXA HEXB
7 lysosomal lumen GO:0043202 9.23 ARSA CTSA GLB1 GM2A HEXA HEXB

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.71 GLB1 HEXA HEXB NEU1
2 metabolic process GO:0008152 9.67 GLB1 HEXA HEXB NEU1
3 positive regulation of catalytic activity GO:0043085 9.61 CTSA GM2A PSAP
4 neuromuscular process controlling balance GO:0050885 9.52 GM2A HEXB
5 sphingolipid metabolic process GO:0006665 9.51 GM2A PSAP
6 keratan sulfate catabolic process GO:0042340 9.5 GLB1 HEXA HEXB
7 neutrophil degranulation GO:0043312 9.5 ARSA CTSA GLB1 GM2A HEXB NEU1
8 lipid storage GO:0019915 9.49 GM2A HEXB
9 hyaluronan catabolic process GO:0030214 9.48 HEXA HEXB
10 chondroitin sulfate catabolic process GO:0030207 9.46 HEXA HEXB
11 oligosaccharide catabolic process GO:0009313 9.43 GM2A HEXB NEU1
12 ganglioside catabolic process GO:0006689 9.33 GM2A HEXB NEU1
13 glycosphingolipid metabolic process GO:0006687 9.23 ARSA CTSA GLB1 GM2A HEXA HEXB

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 9.91 ARSA CTSA GLB1 GM2A HEXA HEXB
2 enzyme activator activity GO:0008047 9.5 CTSA GM2A PSAP
3 acetylglucosaminyltransferase activity GO:0008375 9.46 HEXA HEXB
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.46 GLB1 HEXA HEXB NEU1
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.43 GLB1 HEXB
6 beta-galactosidase activity GO:0004565 9.4 GLB1 PSAP
7 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.26 HEXA HEXB
8 exo-alpha-sialidase activity GO:0004308 9.13 CTSA GLB1 NEU1
9 beta-N-acetylhexosaminidase activity GO:0004563 8.8 GM2A HEXA HEXB

Sources for Tay-Sachs Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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