TSD
MCID: TYS001
MIFTS: 69

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 74 25 20 43 53 58 73 36 29 54 6 42 44 15 37 39 71
Hexosaminidase a Deficiency 57 12 20 43 58 73
Hexa Deficiency 57 20 43 73
Tsd 57 20 43 73
Hexosaminidase Alpha-Subunit Deficiency 20 43 71
Gm2 Gangliosidosis, Type 1 12 20 43
Gm2-Gangliosidosis, Several Forms 57 13
B Variant Gm2 Gangliosidosis 20 43
Sphingolipidosis, Tay-Sachs 20 43
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
Beta-Hexosaminidase a Deficiency 25
B Variant Gm2-Gangliosidosis 57
Gm2-Gangliosidosis B Variant 73
Tay-Sachs Disease Variant B1 73
Gangliosidosis Gm2 , Type 1 20
Gm2-Gangliosidosis, Type I 57
Gm2 Gangliosidosis, Type I 25
Hex a Pseudodeficiency 57
Gm2-Gangliosidosis 1 73
Gangliosidoses, Gm2 71
Hexa Disorders 25
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®:

57 (Updated 05-Mar-2021)
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

GARD : 20 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 Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and brain, and related phenotypes are macrocephaly and hyperreflexia

MedlinePlus Genetics : 43 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) (Updated 05-Mar-2021)

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 154)
# Related Disease Score Top Affiliating Genes
1 gm2-gangliosidosis, ab variant 32.9 PSAP OGA NEU3 HEXB HEXA GM2A
2 gm1-gangliosidosis, type i 32.3 PSAP NPC2 NPC1 GLB1
3 gangliosidosis 31.7 UGCG PSAP HEXB HEXA GM2A GLB1
4 sandhoff disease 31.6 UGCG PSAP OGA NPC2 NPC1 HHEX
5 sphingolipidosis 31.5 UGCG PSAP OGA NPC2 NPC1 HEXB
6 gm2 gangliosidosis 31.2 UGCG PSAP OGA NPC2 NPC1 NEU3
7 cerebral lipidosis 30.9 UGCG NPC1 GLB1
8 gaucher's disease 30.9 UGCG PSAP NPC2 NPC1 HEXA GLA
9 lysosomal storage disease 30.8 PSAP NPC2 NPC1 HEXB HEXA GM2A
10 metachromatic leukodystrophy 30.8 PSAP NPC2 NPC1 HEXA GM2A GLA
11 dystonia 30.7 VIM NPC2 NPC1 GM2A GLB1 ARSA
12 mucolipidosis iv 30.7 NPC2 NPC1 HEXA
13 mucolipidosis 30.6 PSAP NPC1 NEU3 HEXA ARSA
14 niemann-pick disease, type a 30.6 PSAP NPC2 NPC1 GLA GBA
15 niemann-pick disease, type c1 30.5 UGCG PSAP NPC2 NPC1 ARSA
16 fabry disease 30.5 UGCG PSAP GLA GBA ARSA
17 inherited metabolic disorder 30.5 NPC2 NPC1 GLA GBA
18 gaucher disease, type i 30.5 UGCG PSAP NPC2 NPC1 GBA
19 gm1 gangliosidosis 30.4 UGCG PSAP NPC2 NPC1 HEXA GM2A
20 niemann-pick disease 30.4 UGCG PSAP NPC2 NPC1 GM2A GLA
21 lipid storage disease 30.3 UGCG PSAP NPC2 NPC1 GLB1 GLA
22 tay-sachs disease, b1 variant 11.5
23 tay-sachs disease, b variant, juvenile form 11.3
24 tay-sachs disease, b variant, infantile form 11.3
25 tay-sachs disease, b variant, adult form 11.3
26 hypotonia 11.3
27 lipid metabolism disorder 11.2
28 floppy infant syndrome 11.2
29 generalized gangliosidoses 11.2
30 infantile hypotonia 11.2
31 ataxia and polyneuropathy, adult-onset 10.6
32 cystic fibrosis 10.5
33 autosomal recessive disease 10.5
34 spasticity 10.5
35 metachromatic leukodystrophy, late infantile form 10.5 PSAP ARSA
36 tremor 10.5
37 metachromatic leukodystrophy, adult form 10.5 PSAP ARSA
38 niemann-pick disease type c, juvenile neurologic onset 10.4 NPC2 NPC1
39 niemann-pick disease type c, adult neurologic onset 10.4 NPC2 NPC1
40 niemann-pick disease type c, severe early infantile neurologic onset 10.4 NPC2 NPC1
41 niemann-pick disease type c, late infantile neurologic onset 10.4 NPC2 NPC1
42 niemann-pick disease type c, severe perinatal form 10.4 NPC2 NPC1
43 gm1-gangliosidosis, type ii 10.4 HEXB GM2A GLB1
44 metachromatic leukodystrophy, juvenile form 10.4 PSAP ARSA
45 niemann-pick disease, type c2 10.4 PSAP NPC2 NPC1
46 charcot-marie-tooth disease, axonal, type 2v 10.4 GM2A GBA
47 skin hemangioma 10.4 UGCG GLA ETFA
48 angiokeratoma 10.4 UGCG GLA ETFA
49 mucolipidosis ii alpha/beta 10.4 PSAP OGA GM2A
50 gm1-gangliosidosis, type iii 10.4 HEXB GLB1

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 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
3 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
4 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
5 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
6 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
7 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
8 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
9 cherry red spot of the macula 58 31 hallmark (90%) Very frequent (99-80%) HP:0010729
10 hemiplegia/hemiparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004374
11 intellectual disability, progressive 58 31 hallmark (90%) Very frequent (99-80%) HP:0006887
12 psychomotor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002361
13 increased muscle lipid content 58 31 hallmark (90%) Very frequent (99-80%) HP:0009058
14 seizure 31 hallmark (90%) HP:0001250
15 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
16 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
17 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
18 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
19 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
20 myotonia 58 31 frequent (33%) Frequent (79-30%) HP:0002486
21 hypotonia 31 frequent (33%) HP:0001252
22 seizures 58 Very frequent (99-80%)
23 muscular hypotonia 58 Frequent (79-30%)
24 visual impairment 58 Very frequent (99-80%)
25 hypertonia 31 HP:0001276
26 abnormality of movement 58 Very frequent (99-80%)
27 pallor 31 HP:0000980
28 poor head control 31 HP:0002421
29 dementia 31 HP:0000726
30 generalized hypotonia 31 HP:0001290
31 apathy 31 HP:0000741
32 aspiration 31 HP:0002835
33 exaggerated startle response 31 HP:0002267
34 gm2-ganglioside accumulation 31 HP:0003495

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
poor head control
dementia
hypotonia
increased startle response
more
Neurologic Behavioral Psychiatric Manifestations:
apathy

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)

Respiratory Airways:
aspiration

Clinical features from OMIM®:

272800 (Updated 05-Mar-2021)

UMLS symptoms related to Tay-Sachs Disease:


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

MGI Mouse Phenotypes related to Tay-Sachs Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.32 ARSA BRCA2 CLN6 GBA GLA GLB1
2 growth/size/body region MP:0005378 10.25 BRCA2 CLN6 GBA GLA GLB1 HEXA
3 homeostasis/metabolism MP:0005376 10.24 ARSA BRCA2 CLN6 GBA GLA GLB1
4 cellular MP:0005384 10.23 BRCA2 GBA GLA GLB1 HEXB HHEX
5 hematopoietic system MP:0005397 10.14 ARSA BRCA2 CLN6 GBA GLB1 HEXB
6 immune system MP:0005387 10.06 ARSA BRCA2 GBA GLA GLB1 HEXB
7 mortality/aging MP:0010768 10 BRCA2 CLN6 GBA GLA GLB1 HEXA
8 liver/biliary system MP:0005370 9.91 GBA GLA GLB1 HEXA HEXB HHEX
9 nervous system MP:0003631 9.83 ARSA BRCA2 CLN6 GBA GLA GLB1
10 respiratory system MP:0005388 9.17 GBA HHEX NPC1 NPC2 OGA PSAP

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 Anti-HIV Agents Phase 4
3 Cardiac Glycosides Phase 4
4 Antiviral Agents Phase 4
5 Anti-Retroviral Agents Phase 4
6 Hypoglycemic Agents Phase 4
7 Glycoside Hydrolase Inhibitors Phase 4
8 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
9
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
10
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
11
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
12
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
14
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
15
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
16 Anti-Infective Agents Phase 3
17 Immunosuppressive Agents Phase 2, Phase 3
18 Immunologic Factors Phase 2, Phase 3
19 Antirheumatic Agents Phase 2, Phase 3
20 Alkylating Agents Phase 2, Phase 3
21 Antilymphocyte Serum Phase 2, Phase 3
22 Methylprednisolone Acetate Phase 2, Phase 3
23
leucovorin Approved Phase 1, Phase 2 58-05-9 6006
24
Melphalan Approved Phase 2 148-82-3 4053 460612
25
tannic acid Approved Phase 2 1401-55-4
26
Hydroxyurea Approved Phase 2 127-07-1 3657
27
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
28
alemtuzumab Approved, Investigational Phase 2 216503-57-0
29
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
30
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
31
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
32 Nutrients Phase 1, Phase 2
33 Protective Agents Phase 1, Phase 2
34 Micronutrients Phase 1, Phase 2
35 Trace Elements Phase 1, Phase 2
36 Vitamins Phase 1, Phase 2
37 Antidotes Phase 1, Phase 2
38 Antifungal Agents Phase 2
39 Antineoplastic Agents, Immunological Phase 2
40 Antimetabolites Phase 2
41 Cyclosporins Phase 2
42 Dermatologic Agents Phase 2
43 Calcineurin Inhibitors Phase 2
44
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106

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 Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, Safety, and Tolerability of Venglustat in Late-onset GM2 Gangliosidosis (Tay-Sachs Disease and Sandhoff Disease) Together With a Separate Basket for Juvenile/Adolescent Late-onset GM2 Gangliosidosis and Ultra-rare Diseases Within the Same and Similar Glucosylceramide-based Sphingolipid Pathway Recruiting NCT04221451 Phase 3 venglustat GZ402671;placebo
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 A Two-Stage, Dose-Escalation and Safety & Efficacy Study of Bilateral Intraparenchymal Thalamic and Intracisternal/Intrathecal Administration of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease Recruiting NCT04669535 Phase 1
12 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
13 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
14 A Natural History Study of the Gangliosidoses Completed NCT00668187
15 Assessing the Outcomes of Web-based Pre-test Educational Module for Carrier Genetic Screening in Individuals of Ashkenazi Jewish Descent Completed NCT01999257
16 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
17 Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather) Completed NCT01869270
18 Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses Recruiting NCT04624789
19 Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 Recruiting NCT04470713
20 A Natural History of Late Onset Tay-Sachs Disease: MGH Site Recruiting NCT02851862
21 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200

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
Eye, Spinal Cord, Brain, Bone Marrow, Bone, Retina, Skin

Publications for Tay-Sachs Disease

Articles related to Tay-Sachs Disease:

(show top 50) (show all 1168)
# Title Authors PMID Year
1
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients. 57 6 61
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. 57 6 61
2848800 1988
3
Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease. 57 6 61
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. 57 6 61
2837213 1988
5
Mutation in GM2-gangliosidosis B1 variant. 6 57
2961848 1988
6
A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease. 25 6 61
2824459 1987
7
cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts. 57 6
6236461 1984
8
Natural History of Adult Patients with GM2 Gangliosidosis. 25 61 42
31995250 2020
9
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. 61 54 57
16352452 2006
10
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice. 57 54 61
10196372 1999
11
A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts. 6 54 61
9272736 1997
12
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
13
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada. 61 54 6
1483696 1992
14
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. 61 54 6
1384323 1992
15
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population. 6 54 61
1322637 1992
16
Novel Tay-Sachs disease mutations from China. 6 61 54
1301190 1992
17
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies. 6 54 61
1301938 1992
18
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. 61 6 54
1301189 1992
19
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch. 61 54 57
1301937 1992
20
Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. 54 6 61
1833974 1991
21
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. 54 61 57
2355960 1990
22
GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient. 25 6
2973311 1988
23
Neuro-ophthalmology of late-onset Tay-Sachs disease (LOTS). 61 57
15557512 2004
24
Tay-Sachs disease. 61 57
15364698 2004
25
Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor. 61 6
14648242 2004
26
Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. 61 57
12612865 2003
27
Late-onset Tay-Sachs disease as a Friedreich ataxia phenocopy. 57 61
12433276 2002
28
Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. 57 61
11880123 2002
29
Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure. 57 61
11170098 2001
30
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 57 61
9150157 1997
31
Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. 61 57
9103204 1997
32
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. 61 57
9090523 1997
33
The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease. 6 61
8659543 1996
34
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. 61 57
8747922 1995
35
Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease. 57 61
7610760 1995
36
Preimplantation single-cell analysis of multiple genetic loci by whole-genome amplification. 57 61
7517043 1994
37
Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant. 61 6
8198136 1994
38
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. 25 54 61
7902672 1993
39
Is the presence of two different Tay-Sachs disease mutations in a Cajun population an unexpected observation? 6 61
8488832 1993
40
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. 6 61
8490625 1993
41
The presence of two different infantile Tay-Sachs disease mutations in a Cajun population. 61 6
1307230 1992
42
A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease. 6 61
1415222 1992
43
Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles. 6 61
1387685 1992
44
The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders. 6 61
1577470 1992
45
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 6 61
1532289 1992
46
An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease. 61 6
1301958 1992
47
An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia. 61 57
1838393 1991
48
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. 61 6
1837283 1991
49
Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease. 61 6
1830584 1991
50
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients. 61 6
1827945 1991

Variations for Tay-Sachs Disease

ClinVar genetic disease variations for Tay-Sachs Disease:

6 (show top 50) (show all 319)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HEXA NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) SNV other 3922 rs121907970 15:72642925-72642925 15:72350584-72350584
2 HEXA NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) SNV other 126510 rs138058578 15:72642919-72642919 15:72350578-72350578
3 HEXA NM_000520.6(HEXA):c.902T>G (p.Met301Arg) SNV Pathogenic 3933 rs121907977 15:72641504-72641504 15:72349163-72349163
4 HEXA NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) SNV Pathogenic 556416 rs759157781 15:72668205-72668205 15:72375864-72375864
5 HEXA NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) Duplication Pathogenic 3889 rs387906309 15:72638921-72638924 15:72346579-72346580
6 HEXA NM_000520.6(HEXA):c.574G>C (p.Val192Leu) SNV Pathogenic 446267 rs387906310 15:72643572-72643572 15:72351231-72351231
7 HEXA NM_000520.6(HEXA):c.496del (p.Arg166fs) Deletion Pathogenic 984491 15:72645483-72645483 15:72353142-72353142
8 HEXA NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) Duplication Pathogenic 3889 rs387906309 15:72638921-72638924 15:72346579-72346580
9 HEXA-AS1 GRCh37/hg19 15q23(chr15:72662932-72670877) copy number loss Pathogenic 830311 15:72662932-72670877
10 HEXA NC_000015.10:g.(?_72350508)_(72351244_?)del Deletion Pathogenic 831688 15:72642849-72643585
11 HEXA NC_000015.10:g.(?_72375710)_(72376483_?)del Deletion Pathogenic 832282 15:72668051-72668824
12 HEXA NC_000015.10:g.(?_72374460)_(72375992_?)del Deletion Pathogenic 833123 15:72666801-72668333
13 HEXA NM_000520.6(HEXA):c.276dup (p.Asn93fs) Duplication Pathogenic 853583 15:72648935-72648936 15:72356594-72356595
14 HEXA NM_000520.6(HEXA):c.422del (p.Thr141fs) Deletion Pathogenic 864453 15:72646069-72646069 15:72353728-72353728
15 HEXA NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter) SNV Pathogenic 918075 15:72637869-72637869 15:72345528-72345528
16 HEXA NM_000520.6(HEXA):c.413-2A>G SNV Pathogenic 928998 15:72646080-72646080 15:72353739-72353739
17 HEXA NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer) Duplication Pathogenic 842142 15:72648898-72648899 15:72356557-72356558
18 HEXA NM_000520.6(HEXA):c.631_634del (p.Phe211fs) Microsatellite Pathogenic 936196 15:72643512-72643515 15:72351171-72351174
19 HEXA NM_000520.6(HEXA):c.397del (p.Trp133fs) Deletion Pathogenic 945746 15:72647915-72647915 15:72355574-72355574
20 HEXA NM_000520.6(HEXA):c.1419_1420del (p.Trp474fs) Microsatellite Pathogenic 961970 15:72638577-72638578 15:72346236-72346237
21 HEXA NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) SNV Pathogenic 3941 rs121907981 15:72637891-72637891 15:72345550-72345550
22 HEXA NM_000520.6(HEXA):c.1147-1G>T SNV Pathogenic 872976
23 HEXA NM_000520.6(HEXA):c.346+1G>A SNV Pathogenic 556348 rs797044432 15:72648865-72648865 15:72356524-72356524
24 HEXA NM_000520.6(HEXA):c.1A>C (p.Met1Leu) SNV Pathogenic 619221 rs121907965 15:72668313-72668313 15:72375972-72375972
25 HEXA NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) SNV Pathogenic 379311 rs987036804 15:72668159-72668159 15:72375818-72375818
26 HEXA NM_000520.6(HEXA):c.3G>A (p.Met1Ile) SNV Pathogenic 644889 rs1595816410 15:72668311-72668311 15:72375970-72375970
27 HEXA NM_000520.6(HEXA):c.772G>C (p.Asp258His) SNV Pathogenic 3924 rs121907971 15:72642892-72642892 15:72350551-72350551
28 HEXA NM_000520.6(HEXA):c.430C>T (p.Gln144Ter) SNV Pathogenic 662486 rs1595802191 15:72646061-72646061 15:72353720-72353720
29 HEXA NM_000520.6(HEXA):c.927_928CT[1] (p.Ser310fs) Microsatellite Pathogenic 562219 rs751248523 15:72641476-72641477 15:72349135-72349136
30 HEXA NM_000520.6(HEXA):c.571-1G>T SNV Pathogenic 569012 rs185429231 15:72643576-72643576 15:72351235-72351235
31 HEXA NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) SNV Pathogenic 453185 rs769035623 15:72668081-72668081 15:72375740-72375740
32 HEXA NM_000520.6(HEXA):c.460-1G>T SNV Pathogenic 496011 rs764343937 15:72645520-72645520 15:72353179-72353179
33 HEXA NM_000520.6(HEXA):c.524A>C (p.Asp175Ala) SNV Pathogenic 375353 rs1057519460 15:72645455-72645455 15:72353114-72353114
34 HEXA NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg) SNV Pathogenic 375364 rs1057519467 15:72637881-72637881 15:72345540-72345540
35 HEXA NM_000520.6(HEXA):c.1275_1278dup (p.Tyr427fs) Duplication Pathogenic 417859 rs1555472406 15:72638919-72638920 15:72346578-72346579
36 HEXA NM_000520.6(HEXA):c.1330+1G>A SNV Pathogenic 371490 rs767041069 15:72638867-72638867 15:72346526-72346526
37 HEXA NM_000520.6(HEXA):c.805+1G>A SNV Pathogenic 3938 rs121907980 15:72642858-72642858 15:72350517-72350517
38 HEXA NM_000520.6(HEXA):c.533G>A (p.Arg178His) SNV Pathogenic 3896 rs28941770 15:72645446-72645446 15:72353105-72353105
39 HEXA NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) SNV Pathogenic 375365 rs1057519468 15:72637859-72637859 15:72345518-72345518
40 HEXA NM_000520.6(HEXA):c.459+4A>C SNV Pathogenic 375351 rs1057519459 15:72646028-72646028 15:72353687-72353687
41 HEXA NM_000520.6(HEXA):c.898_905del (p.Phe300fs) Deletion Pathogenic 375359 rs1057519463 15:72641501-72641508 15:72349160-72349167
42 HEXA NM_000520.6(HEXA):c.459+5G>A SNV Pathogenic 374505 rs762060470 15:72646027-72646027 15:72353686-72353686
43 HEXA NM_000520.6(HEXA):c.805+1G>C SNV Pathogenic 375358 rs121907980 15:72642858-72642858 15:72350517-72350517
44 HEXA NM_000520.6(HEXA):c.426del (p.Phe142fs) Deletion Pathogenic 375350 rs1057519458 15:72646065-72646065 15:72353724-72353724
45 HEXA NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro) SNV Pathogenic 375360 rs1057519464 15:72640052-72640052 15:72347711-72347711
46 HEXA NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) SNV Pathogenic 3902 rs121907959 15:72642915-72642915 15:72350574-72350574
47 HEXA NM_000520.6(HEXA):c.987G>A (p.Trp329Ter) SNV Pathogenic 3916 rs121907967 15:72640475-72640475 15:72348134-72348134
48 HEXA NM_000520.6(HEXA):c.1421+1G>C SNV Pathogenic 3890 rs147324677 15:72638575-72638575 15:72346234-72346234
49 HEXA NM_000520.6(HEXA):c.1510del (p.Arg504fs) Deletion Pathogenic 3894 rs797044433 15:72637803-72637803 15:72345462-72345462
50 HEXA NM_000520.6(HEXA):c.533G>A (p.Arg178His) SNV Pathogenic 3896 rs28941770 15:72645446-72645446 15:72353105-72353105

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 rs121907980
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
13.75 UGCG PSAP NPC2 NPC1 NEU3 HEXD
2
Show member pathways
12.06 UGCG PSAP NEU3 HEXB HEXA GM2A
3
Show member pathways
11.66 HEXD HEXB HEXA
4
Show member pathways
11.55 HEXB HEXA GLB1
5 11.43 PSAP NPC2 NPC1 HEXB HEXA GM2A
6
Show member pathways
11.15 HEXB HEXA GLA
7
Show member pathways
10.99 HEXB HEXA GLB1
8 10.89 NEU3 HEXD HEXB HEXA GLB1 GBA
9
Show member pathways
10.8 HEXB HEXA GLB1
10
Show member pathways
10.6 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 VIM PSAP NPC2 NPC1 HEXB HEXA
2 intracellular membrane-bounded organelle GO:0043231 9.85 PSAP NEU3 HEXA GM2A GLB1 CLN6
3 lysosomal membrane GO:0005765 9.71 PSAP NPC1 NEU3 GBA
4 lysosome GO:0005764 9.7 PSAP NPC2 NPC1 NEU3 HEXB HEXA
5 azurophil granule lumen GO:0035578 9.63 NPC2 HEXB GM2A GLB1 GLA ARSA
6 azurophil granule GO:0042582 9.32 HEXB HEXA
7 lysosomal lumen GO:0043202 9.28 PSAP NPC2 HEXB HEXA GM2A GLB1

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 10 UGCG PSAP NPC2 NPC1 NEU3 GM2A
2 neutrophil degranulation GO:0043312 9.87 PSAP NPC2 HEXB GM2A GLB1 GLA
3 lipid transport GO:0006869 9.81 PSAP NPC2 NPC1 GM2A
4 cholesterol metabolic process GO:0008203 9.8 NPC2 NPC1 GBA CLN6
5 steroid metabolic process GO:0008202 9.77 NPC2 NPC1 GBA
6 carbohydrate metabolic process GO:0005975 9.73 NEU3 HEXD HEXB HEXA GLB1 GLA
7 lysosome organization GO:0007040 9.71 HEXB GBA CLN6
8 sphingolipid metabolic process GO:0006665 9.71 UGCG PSAP GM2A GBA
9 lipid storage GO:0019915 9.65 HEXB GM2A GBA
10 neuromuscular process GO:0050905 9.62 HEXB GBA
11 cholesterol efflux GO:0033344 9.62 NPC2 NPC1
12 low-density lipoprotein particle clearance GO:0034383 9.61 NPC2 NPC1
13 cholesterol transport GO:0030301 9.61 NPC2 NPC1
14 keratan sulfate catabolic process GO:0042340 9.61 HEXB HEXA GLB1
15 lysosomal transport GO:0007041 9.59 PSAP NPC1
16 hyaluronan catabolic process GO:0030214 9.58 HEXB HEXA
17 chondroitin sulfate catabolic process GO:0030207 9.58 HEXB HEXA
18 glycosaminoglycan metabolic process GO:0030203 9.57 HEXB CLN6
19 intracellular cholesterol transport GO:0032367 9.56 NPC2 NPC1
20 metabolic process GO:0008152 9.56 OGA NEU3 HEXD HEXB HEXA GLB1
21 response to pH GO:0009268 9.55 GBA ARSA
22 oligosaccharide catabolic process GO:0009313 9.54 NEU3 HEXB GM2A
23 ganglioside metabolic process GO:0001573 9.52 GM2A CLN6
24 ganglioside catabolic process GO:0006689 9.46 NEU3 HEXB HEXA GM2A
25 glycosphingolipid metabolic process GO:0006687 9.32 UGCG PSAP NEU3 HEXB HEXA GM2A

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 10.02 OGA NEU3 HEXD HEXB HEXA GM2A
2 protein homodimerization activity GO:0042803 9.83 PSAP HHEX GLB1 GLA CLN6
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.55 HEXD HEXB HEXA GLB1 GLA
4 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.43 HEXD HEXB HEXA
5 galactoside binding GO:0016936 9.4 GLB1 GLA
6 beta-galactosidase activity GO:0004565 9.37 PSAP GLB1
7 beta-N-acetylhexosaminidase activity GO:0004563 9.26 HEXD HEXB HEXA GM2A
8 hydrolase activity, acting on glycosyl bonds GO:0016798 9.23 OGA NEU3 HEXD HEXB HEXA GLB1

Sources for Tay-Sachs Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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