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 56 12 74 52 25 53 58 73 36 29 54 6 42 43 15 37 39 71
Hexosaminidase a Deficiency 56 12 24 52 25 58 73
Hexa Deficiency 56 52 25 73
Tsd 56 52 25 73
Hexosaminidase Alpha-Subunit Deficiency 52 25 71
Gm2 Gangliosidosis, Type 1 12 52 25
Gm2-Gangliosidosis, Several Forms 56 13
B Variant Gm2 Gangliosidosis 52 25
Sphingolipidosis, Tay-Sachs 52 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 73
Gm2 Gangliosidosis, B, B1 Variant 58
B Variant Gm2-Gangliosidosis 56
Gm2-Gangliosidosis B Variant 73
Tay-Sachs Disease Variant B1 73
Gangliosidosis Gm2 , Type 1 52
Gm2-Gangliosidosis, Type I 56
Hex a Pseudodeficiency 56
Gm2-Gangliosidosis 1 73
Gangliosidoses, Gm2 71
Gm2 Gangliosidosis 24
Hex a Deficiency 24
Gm2g1 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
tay-sachs disease:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Tay-Sachs Disease

NIH Rare Diseases : 52 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 gm2-gangliosidosis, ab variant and gm1-gangliosidosis, type i, 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 : 56 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 : 42 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 : 53 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 : 36 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 : 73 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 : 74 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 171)
# Related Disease Score Top Affiliating Genes
1 gm2-gangliosidosis, ab variant 34.3 OGA NAGA HEXB HEXA GM2A ETFA
2 gm1-gangliosidosis, type i 33.4 PSAP HEXA GLA ARSA
3 gangliosidosis 31.7 UGCG PSAP HEXB HEXA GM2A CTSA
4 sandhoff disease 31.4 UGCG SMPD1 PSAP OGA NPC2 NPC1
5 gaucher's disease 31.1 UGCG PSAP ARSA
6 gaucher disease, type i 31.0 UGCG SMPD1 PSAP HEXA GLA ARSA
7 mucolipidosis iv 30.7 NPC2 NPC1 HEXA
8 metachromatic leukodystrophy 30.6 SMPD1 PSAP HEXA GM2A GLA CTSA
9 niemann-pick disease, type a 30.6 SMPD1 PSAP NPC2 NPC1
10 sphingolipidosis 30.5 UGCG SMPD1 PSAP OGA NPC2 NPC1
11 fabry disease 30.5 UGCG PSAP NAGA GLA ARSA
12 niemann-pick disease, type c1 30.5 SMPD1 PSAP NPC2 NPC1 HEXA
13 inherited metabolic disorder 30.4 SMPD1 NPC2 NPC1 GLA ARSA
14 lysosomal storage disease 30.2 SMPD1 PSAP NPC2 NPC1 NAGA HEXB
15 mucolipidosis 30.1 SMPD1 PSAP NPC1 NEU3 HEXA CTSA
16 niemann-pick disease 30.1 UGCG SMPD1 PSAP NPC2 NPC1 ASAH1
17 gm1 gangliosidosis 30.1 UGCG PSAP NPC2 NPC1 HEXA GM2A
18 lipid storage disease 29.6 UGCG SMPD1 PSAP NPC2 NPC1 HEXA
19 gm2 gangliosidosis 29.2 UGCG SMPD1 PSAP OGA NPC2 NPC1
20 tay-sachs disease, b1 variant 12.8
21 gm2 gangliosidosis, 0 variant 12.6
22 tay-sachs disease, b variant, juvenile form 12.6
23 tay-sachs disease, b variant, infantile form 12.6
24 tay-sachs disease, b variant, adult form 12.6
25 hypotonia 11.9
26 lipid metabolism disorder 11.5
27 floppy infant syndrome 11.5
28 generalized gangliosidoses 11.5
29 infantile hypotonia 11.5
30 cystic fibrosis 10.6
31 ataxia and polyneuropathy, adult-onset 10.6
32 autosomal recessive disease 10.6
33 spasticity 10.6
34 gm1-gangliosidosis, type ii 10.6 HEXB GM2A
35 tremor 10.5
36 thalassemia 10.5
37 leukodystrophy 10.5
38 sickle cell disease 10.5
39 hyperacusis 10.5
40 niemann-pick disease type c, juvenile neurologic onset 10.4 NPC2 NPC1
41 niemann-pick disease type c, adult neurologic onset 10.4 NPC2 NPC1
42 gallbladder papillomatosis 10.4 NAGA HEXB GM2A
43 metachromatic leukodystrophy, juvenile form 10.4 PSAP ARSA
44 niemann-pick disease type c, severe early infantile neurologic onset 10.4 NPC2 NPC1
45 niemann-pick disease type c, late infantile neurologic onset 10.4 NPC2 NPC1
46 metachromatic leukodystrophy, late infantile form 10.4 PSAP ARSA
47 niemann-pick disease type c, severe perinatal form 10.4 NPC2 NPC1
48 mucolipidosis ii alpha/beta 10.4 SMPD1 PSAP GM2A
49 fibrosis of extraocular muscles, congenital, 1 10.4
50 pick disease of brain 10.4

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:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
4 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
5 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
6 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
7 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
8 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
9 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
10 cherry red spot of the macula 58 31 hallmark (90%) Very frequent (99-80%) HP:0010729
11 hemiplegia/hemiparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004374
12 intellectual disability, progressive 58 31 hallmark (90%) Very frequent (99-80%) HP:0006887
13 increased muscle lipid content 58 31 hallmark (90%) Very frequent (99-80%) HP:0009058
14 psychomotor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002361
15 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
16 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
17 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
18 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
19 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
20 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
21 myotonia 58 31 frequent (33%) Frequent (79-30%) HP:0002486
22 visual impairment 58 Very frequent (99-80%)
23 hypertonia 31 HP:0001276
24 abnormality of movement 58 Very frequent (99-80%)
25 pallor 31 HP:0000980
26 generalized hypotonia 31 HP:0001290
27 exaggerated startle response 31 HP:0002267
28 dementia 31 HP:0000726
29 aspiration 31 HP:0002835
30 poor head control 31 HP:0002421
31 apathy 31 HP:0000741
32 gm2-ganglioside accumulation 31 HP:0003495

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Tay-Sachs Disease:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 ARSA ASAH1 BRCA2 CTSA GLA GM2A
2 homeostasis/metabolism MP:0005376 10.34 ARSA ASAH1 BRCA2 CTSA GLA HEXA
3 cellular MP:0005384 10.31 ASAH1 BRCA2 CTSA GLA HEXB HHEX
4 growth/size/body region MP:0005378 10.29 ASAH1 BRCA2 CTSA GLA HEXA HEXB
5 hematopoietic system MP:0005397 10.23 ARSA ASAH1 BRCA2 CTSA HEXB HHEX
6 immune system MP:0005387 10.22 ARSA ASAH1 BRCA2 CTSA GLA HEXB
7 mortality/aging MP:0010768 10.17 ASAH1 BRCA2 CTSA GLA HEXA HEXB
8 nervous system MP:0003631 10.1 ARSA ASAH1 BRCA2 GLA GM2A HEXA
9 liver/biliary system MP:0005370 10.07 ASAH1 CTSA GLA HEXA HEXB HHEX
10 renal/urinary system MP:0005367 9.7 ASAH1 CTSA GLA HEXA HEXB PSAP
11 reproductive system MP:0005389 9.61 ASAH1 BRCA2 CTSA HEXA HEXB NPC1
12 respiratory system MP:0005388 9.28 ASAH1 CTSA HHEX NPC1 NPC2 OGA

Drugs & Therapeutics for Tay-Sachs Disease

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

(show all 47)
# 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 Hypoglycemic Agents Phase 4
4 Anti-Retroviral Agents Phase 4
5 Antiviral Agents Phase 4
6 Glycoside Hydrolase Inhibitors Phase 4
7 Cardiac Glycosides Phase 4
8 Anti-HIV Agents Phase 4
9
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
10
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
11
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
12
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
13
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
14 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
15
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
16
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Immunologic Factors Phase 2, Phase 3
18 Alkylating Agents Phase 2, Phase 3
19 Methylprednisolone Acetate Phase 2, Phase 3
20 Antilymphocyte Serum Phase 2, Phase 3
21 Immunosuppressive Agents Phase 2, Phase 3
22 Antirheumatic Agents Phase 2, Phase 3
23
tannic acid Approved Phase 2 1401-55-4
24
Melphalan Approved Phase 2 148-82-3 4053 460612
25
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
26
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
27
alemtuzumab Approved, Investigational Phase 2 216503-57-0
28
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
29
Hydroxyurea Approved Phase 2 127-07-1 3657
30 Anti-Infective Agents Phase 2
31 Antineoplastic Agents, Immunological Phase 2
32 Antifungal Agents Phase 2
33 Dermatologic Agents Phase 2
34 Cyclosporins Phase 2
35 Antimetabolites Phase 2
36 Calcineurin Inhibitors Phase 2
37
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106
38
Mycophenolic acid Approved 24280-93-1 446541
39 Antitubercular Agents
40 Anti-Bacterial Agents
41 interferons
42 Antibiotics, Antitubercular
43 Protective Agents
44 polysaccharide-K
45 Adjuvants, Immunologic
46 Interferon Inducers
47 Radiation-Protective Agents

Interventional clinical trials:

(show all 22)
# 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 A Natural History Study of the Gangliosidoses Completed NCT00668187
14 Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather) Completed NCT01869270
15 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
16 Assessing the Outcomes of Web-based Pre-test Educational Module for Carrier Genetic Screening in Individuals of Ashkenazi Jewish Descent Completed NCT01999257
17 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
18 Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency Completed NCT00592540
19 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298647
20 Investigation of Neurodegeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
21 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
22 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:

40
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 1154)
# Title Authors PMID Year
1
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients. 61 56 6
2137287 1990
2
The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. 61 56 6
2848800 1988
3
Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease. 61 56 6
2973464 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. 61 56 6
2837213 1988
5
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 61 24 6
19888064 2009
6
Neuro-ophthalmology of late-onset Tay-Sachs disease (LOTS). 61 24 56
15557512 2004
7
Mutation in GM2-gangliosidosis B1 variant. 56 6
2961848 1988
8
A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease. 61 24 6
2824459 1987
9
Hexosaminidase A deficiency in adults. 61 24 56
2939718 1986
10
cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts. 56 6
6236461 1984
11
Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship. 61 24 56
175770 1976
12
Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. 61 24 56
5793973 1969
13
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. 54 61 56
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. 54 61 6
14727180 2004
15
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice. 54 61 56
10196372 1999
16
A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts. 54 61 6
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. 54 61 6
8326491 1993
18
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada. 54 61 6
1483696 1992
19
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. 54 61 6
1384323 1992
20
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population. 54 61 6
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. 54 61 6
1301189 1992
22
Novel Tay-Sachs disease mutations from China. 54 61 6
1301190 1992
23
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies. 54 61 6
1301938 1992
24
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch. 54 61 56
1301937 1992
25
Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. 54 61 6
1833974 1991
26
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. 54 61 56
2355960 1990
27
Structural consequences of amino acid substitutions causing Tay-Sachs disease. 61 6
18490185 2008
28
The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis. 54 61 24
15956171 2005
29
Tay-Sachs disease. 61 56
15364698 2004
30
Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor. 61 6
14648242 2004
31
Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. 61 56
12612865 2003
32
Late-onset Tay-Sachs disease as a Friedreich ataxia phenocopy. 61 56
12433276 2002
33
Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. 61 56
11880123 2002
34
Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure. 61 56
11170098 2001
35
Hexosaminidase A Deficiency 61 6
20301397 1999
36
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 61 56
9150157 1997
37
Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. 61 56
9103204 1997
38
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. 61 56
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. 61 6
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. 61 56
8747922 1995
41
Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease. 61 56
7610760 1995
42
Preimplantation single-cell analysis of multiple genetic loci by whole-genome amplification. 61 56
7517043 1994
43
Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant. 61 6
8198136 1994
44
Is the presence of two different Tay-Sachs disease mutations in a Cajun population an unexpected observation? 61 6
8488832 1993
45
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. 61 6
8490625 1993
46
Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A. 61 6
8257995 1993
47
The presence of two different infantile Tay-Sachs disease mutations in a Cajun population. 61 6
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. 61 6
1415222 1992
49
Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles. 61 6
1387685 1992
50
The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders. 61 6
1577470 1992

Variations for Tay-Sachs Disease

ClinVar genetic disease variations for Tay-Sachs Disease:

6 (show top 50) (show all 245) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HEXA NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)SNV Benign, other 126510 rs138058578 15:72642919-72642919 15:72350578-72350578
2 HEXA NM_000520.6(HEXA):c.1330+1G>ASNV Pathogenic 371490 rs767041069 15:72638867-72638867 15:72346526-72346526
3 HEXA NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter)SNV Pathogenic 375365 rs1057519468 15:72637859-72637859 15:72345518-72345518
4 HEXA NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg)SNV Pathogenic 375364 rs1057519467 15:72637881-72637881 15:72345540-72345540
5 HEXA NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro)SNV Pathogenic 375360 rs1057519464 15:72640052-72640052 15:72347711-72347711
6 HEXA NM_000520.6(HEXA):c.898_905del (p.Phe300fs)deletion Pathogenic 375359 rs1057519463 15:72641501-72641508 15:72349160-72349167
7 HEXA NM_000520.6(HEXA):c.805+1G>CSNV Pathogenic 375358 rs121907980 15:72642858-72642858 15:72350517-72350517
8 HEXA NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)SNV Pathogenic 375357 rs121907954 15:72642859-72642859 15:72350518-72350518
9 HEXA NM_000520.6(HEXA):c.524A>C (p.Asp175Ala)SNV Pathogenic 375353 rs1057519460 15:72645455-72645455 15:72353114-72353114
10 HEXA NM_000520.6(HEXA):c.459+4A>CSNV Pathogenic 375351 rs1057519459 15:72646028-72646028 15:72353687-72353687
11 HEXA NM_000520.6(HEXA):c.426del (p.Phe142fs)deletion Pathogenic 375350 rs1057519458 15:72646065-72646065 15:72353724-72353724
12 HEXA NM_000520.6(HEXA):c.1275_1278dup (p.Tyr427fs)duplication Pathogenic 417859 rs1555472406 15:72638919-72638920 15:72346578-72346579
13 HEXA NM_000520.6(HEXA):c.155C>A (p.Ser52Ter)SNV Pathogenic 379311 rs987036804 15:72668159-72668159 15:72375818-72375818
14 HEXA NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)SNV Pathogenic 453185 rs769035623 15:72668081-72668081 15:72375740-72375740
15 HEXA NM_000520.6(HEXA):c.460-1G>TSNV Pathogenic 496011 rs764343937 15:72645520-72645520 15:72353179-72353179
16 HEXA NM_000520.6(HEXA):c.1385A>T (p.Glu462Val)SNV Pathogenic 218134 rs863225434 15:72638612-72638612 15:72346271-72346271
17 HEXA NM_000520.6(HEXA):c.340G>A (p.Glu114Lys)SNV Pathogenic 218335 rs748190164 15:72648872-72648872 15:72356531-72356531
18 HEXA NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro)SNV Pathogenic 218337 rs370266293 15:72639020-72639020 15:72346679-72346679
19 HEXA NM_000520.5(HEXA):c.1274_1277dup (p.Tyr427Ilefs)duplication Pathogenic 3889 rs387906309 15:72638921-72638924 15:72346579-72346580
20 HEXA NM_000520.6(HEXA):c.1421+1G>CSNV Pathogenic 3890 rs147324677 15:72638575-72638575 15:72346234-72346234
21 HEXA NM_000520.6(HEXA):c.1510del (p.Arg504fs)deletion Pathogenic 3894 rs797044433 15:72637803-72637803 15:72345462-72345462
22 HEXA NM_000520.5(HEXA):c.533G>A (p.Arg178His)SNV Pathogenic 3896 rs28941770 15:72645446-72645446 15:72353105-72353105
23 HEXA NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)SNV Pathogenic 3897 rs121907953 15:72645447-72645447 15:72353106-72353106
24 HEXA NM_000520.5(HEXA):c.805G>A (p.Gly269Ser)SNV Pathogenic 3898 rs121907954 15:72642859-72642859 15:72350518-72350518
25 HEXA HEXA, IVS4, G-T, -1SNV Pathogenic 3907
26 HEXA NM_000520.6(HEXA):c.629C>T (p.Ser210Phe)SNV Pathogenic 3908 rs121907961 15:72643517-72643517 15:72351176-72351176
27 HEXA HEXA, 5-BP DEL, TCTCC, IVS9deletion Pathogenic 3909
28 HEXA HEXA, 2-BP DEL, TG, EX5deletion Pathogenic 3910
29 HEXA NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)SNV Pathogenic 3911 rs121907964 15:72668236-72668236 15:72375895-72375895
30 HEXA NM_000520.6(HEXA):c.533G>T (p.Arg178Leu)SNV Pathogenic 3912 rs28941770 15:72645446-72645446 15:72353105-72353105
31 HEXA HEXA, IVS2, G-A, +1SNV Pathogenic 3913
32 HEXA NM_000520.6(HEXA):c.1A>G (p.Met1Val)SNV Pathogenic 3914 rs121907965 15:72668313-72668313 15:72375972-72375972
33 HEXA NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)SNV Pathogenic 3901 rs121907958 15:72638938-72638938 15:72346597-72346597
34 HEXA NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)SNV Pathogenic 3904 rs121907962 15:72647903-72647903 15:72355562-72355562
35 HEXA NM_000520.5(HEXA):c.1177C>T (p.Arg393Ter)SNV Pathogenic 3905 rs121907963 15:72639021-72639021 15:72346680-72346680
36 HEXA NM_000520.6(HEXA):c.546dup (p.Leu183fs)duplication Pathogenic 3918 15:72645432-72645433 15:72353091-72353092
37 HEXA NM_000520.6(HEXA):c.540C>G (p.Tyr180Ter)SNV Pathogenic 3919 rs121907969 15:72645439-72645439 15:72353098-72353098
38 HEXA NM_000520.6(HEXA):c.1073+1G>ASNV Pathogenic 3920 rs76173977 15:72640388-72640388 15:72348047-72348047
39 HEXA NM_000520.5(HEXA):c.772G>C (p.Asp258His)SNV Pathogenic 3924 rs121907971 15:72642892-72642892 15:72350551-72350551
40 HEXA HEXA, 2-BP DEL, CODON 310deletion Pathogenic 3926
41 HEXA NM_000520.6(HEXA):c.632T>C (p.Phe211Ser)SNV Pathogenic 3929 rs121907974 15:72643514-72643514 15:72351173-72351173
42 HEXA NM_000520.6(HEXA):c.380T>G (p.Leu127Arg)SNV Pathogenic 3930 rs121907975 15:72647932-72647932 15:72355591-72355591
43 HEXA NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser)SNV Pathogenic 3934 rs121907978 15:72638637-72638637 15:72346296-72346296
44 HEXA NM_000520.6(HEXA):c.116T>G (p.Leu39Arg)SNV Pathogenic 3935 rs121907979 15:72668198-72668198 15:72375857-72375857
45 HEXA NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter)SNV Pathogenic 3936 rs267606862 15:72639022-72639022 15:72346681-72346681
46 HEXA HEXA, IVS7, G-A, +1SNV Pathogenic 3937
47 HEXA NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)deletion Pathogenic 3932 15:72646065-72646066 15:72353724-72353725
48 HEXA NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr)SNV Pathogenic 30606 rs387906949 15:72668141-72668141 15:72375800-72375800
49 GM2A NM_000405.5(GM2A):c.333del (p.Cys112fs)deletion Pathogenic 100728 rs587779405 5:150646381-150646381 5:151266820-151266820
50 HEXA NM_000520.6(HEXA):c.718_719insT (p.Lys240fs)insertion Pathogenic 100730 rs587779407 15:72642945-72642946 15:72350604-72350605

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

73 (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:

36
# 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
13.78 UGCG SMPD1 PSAP NPC2 NPC1 NEU3
2
Show member pathways
12.1 UGCG SMPD1 PSAP NEU3 HEXB HEXA
3 11.49 SMPD1 PSAP NPC2 NPC1 NAGA HEXB
4
Show member pathways
11.02 NAGA HEXB HEXA GLA
5 10.75 NEU3 HEXB HEXA
6
Show member pathways
10.71 HEXB HEXA
7
Show member pathways
10.51 NPC2 NPC1

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 10.07 VIM SMPD1 PSAP NPC2 NPC1 NAGA
2 extracellular region GO:0005576 10.02 SMPD1 PSAP NPC2 NPC1 HEXB GM2A
3 lysosomal lumen GO:0043202 9.65 SMPD1 PSAP NPC2 HEXB HEXA GM2A
4 azurophil granule lumen GO:0035578 9.63 NPC2 HEXB GM2A GLA CTSA ARSA
5 lysosome GO:0005764 9.44 SMPD1 PSAP NPC2 NPC1 NEU3 NAGA
6 azurophil granule GO:0042582 9.37 HEXB HEXA

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.95 UGCG PSAP NPC2 NPC1 NEU3 GM2A
2 carbohydrate metabolic process GO:0005975 9.83 NEU3 NAGA HEXB HEXA GLA
3 lipid transport GO:0006869 9.78 PSAP NPC2 NPC1 GM2A
4 cholesterol metabolic process GO:0008203 9.76 SMPD1 NPC2 NPC1
5 neutrophil degranulation GO:0043312 9.76 PSAP NPC2 HEXB GM2A GLA CTSA
6 neuromuscular process controlling balance GO:0050885 9.7 PSAP HEXB GM2A
7 low-density lipoprotein particle clearance GO:0034383 9.62 NPC2 NPC1
8 cholesterol transport GO:0030301 9.62 NPC2 NPC1
9 sphingolipid metabolic process GO:0006665 9.62 UGCG PSAP GM2A ASAH1
10 cholesterol efflux GO:0033344 9.61 NPC2 NPC1
11 lipid storage GO:0019915 9.61 HEXB GM2A
12 lysosomal transport GO:0007041 9.6 PSAP NPC1
13 hyaluronan catabolic process GO:0030214 9.59 HEXB HEXA
14 chondroitin sulfate catabolic process GO:0030207 9.58 HEXB HEXA
15 keratan sulfate catabolic process GO:0042340 9.57 HEXB HEXA
16 oligosaccharide metabolic process GO:0009311 9.56 NAGA GLA
17 intracellular cholesterol transport GO:0032367 9.55 NPC2 NPC1
18 glycoside catabolic process GO:0016139 9.54 NAGA GLA
19 oligosaccharide catabolic process GO:0009313 9.54 NEU3 HEXB GM2A
20 positive regulation of hydrolase activity GO:0051345 9.51 PSAP GM2A
21 metabolic process GO:0008152 9.5 SMPD1 OGA NEU3 NAGA HEXB HEXA
22 cornified envelope assembly GO:1903575 9.49 UGCG PSAP
23 glycosylceramide catabolic process GO:0046477 9.46 NAGA GLA
24 ganglioside catabolic process GO:0006689 9.43 NEU3 HEXB GM2A
25 glycosphingolipid metabolic process GO:0006687 9.36 UGCG SMPD1 PSAP NEU3 HEXB HEXA

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 9.9 SMPD1 OGA NEU3 NAGA HEXB HEXA
2 enzyme activator activity GO:0008047 9.58 PSAP GM2A CTSA
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.43 NAGA HEXB GLA
4 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.37 HEXB HEXA
5 alpha-galactosidase activity GO:0004557 9.32 NAGA GLA
6 hydrolase activity, acting on glycosyl bonds GO:0016798 9.17 SMPD1 OGA NEU3 NAGA HEXB HEXA
7 beta-N-acetylhexosaminidase activity GO:0004563 9.13 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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