GM2G1
MCID: TYS001
MIFTS: 71

Tay-Sachs Disease (GM2G1) malady

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

Aliases & Classifications for Tay-Sachs Disease

Aliases & Descriptions for Tay-Sachs Disease:

Name: Tay-Sachs Disease 54 38 12 71 50 24 25 51 56 66 52 41 42 14 69
Hexosaminidase a Deficiency 12 23 50 24 25 56 66
Tsd 50 24 25 66
Hexosaminidase Alpha-Subunit Deficiency 50 25 69
Gm2 Gangliosidosis 23 24 52
Hexa Deficiency 50 25 66
Gm2-Gangliosidosis, Several Forms 54 13
B Variant Gm2 Gangliosidosis 50 25
Sphingolipidosis, Tay-Sachs 50 25
Gm2 Gangliosidosis, Type 1 50 25
Disease, Tay-Sachs 12 29
Hex a Deficiency 23 24
Tay-Sachs Disease Pseudo-Ab Variant 66
Acute Infantile Gm2 Gangliosidosis 24
Type 1 Hexosaminidase a-Deficiency 24
Gm2 Gangliosidosis, B, B1 Variant 56
Gm2-Gangliosidosis B Variant 66
Tay-Sachs Disease Variant B1 66
Gangliosidosis Gm2 , Type 1 50
Type I Gm2 Gangliosidosis 24
Gm2-Gangliosidosis 1 66
Gangliosidoses, Gm2 69
Gm2g1 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:



External Ids:

OMIM 54 272800
Disease Ontology 12 DOID:3320
ICD10 33 E75.02 E75.0
MeSH 42 D013661
NCIt 47 C85184
SNOMED-CT 64 111385000
Orphanet 56 ORPHA845
ICD10 via Orphanet 34 E75.0
UMLS via Orphanet 70 C0039373 C1848922
MESH via Orphanet 43 D013661
UMLS 69 C0039373

Summaries for Tay-Sachs Disease

NINDS : 51 Tay-Sachs disease is a 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 GMgangliosidoses.  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.  Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing.  Seizures may begin in the child's second year. Persons with Tay-Sachs also have "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 know as Sandhoff disease, which is not limited to any ethnic group.

MalaCards based summary : Tay-Sachs Disease, also known as hexosaminidase a deficiency, is related to sandhoff disease, infantile, juvenile, and adult forms and tay-sachs disease, b1 variant, and has symptoms including ataxia, seizures and macrocephaly. An important gene associated with Tay-Sachs Disease is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. 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 behavior/neurological and hematopoietic system

Genetics Home Reference : 25 Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

NIH Rare Diseases : 50 tay-sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. tay-sachs is caused by the absence of a vital enzyme called hexosaminidase-a (hex-a). without hex-a, a fatty substance, or lipid, called gm2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. this ongoing accumulation causes progressive damage to the cells. tay-sachs disease is inherited in an autosomal recessive pattern.  last updated: 1/14/2016

OMIM : 54 Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile... (272800) more...

MedlinePlus : 41 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

UniProtKB/Swiss-Prot : 66 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 : 71 Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is a rare... 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 73)
id Related Disease Score Top Affiliating Genes
1 sandhoff disease, infantile, juvenile, and adult forms 31.9 HEXA SMN1
2 tay-sachs disease, b1 variant 12.3
3 gm2 gangliosidosis, 0 variant 12.2
4 tay-sachs disease, b variant, juvenile form 12.2
5 tay-sachs disease, b variant, infantile form 12.2
6 tay-sachs disease, b variant, adult form 12.2
7 gm2-gangliosidosis, ab variant 12.1
8 juvenile hexosaminidase a deficiency 12.1
9 chronic and adult-onset hexosaminidase a deficiency 12.0
10 hypotonia 11.1
11 lipid metabolism disorder 11.1
12 infantile hypotonia 11.1
13 gm1-gangliosidosis, type i 11.1
14 floppy infant syndrome 11.1
15 cystic fibrosis 10.4
16 cerebritis 10.3
17 neuronitis 10.3
18 metachromatic leukodystrophy 10.2
19 thalassemia 10.2
20 leukodystrophy 10.2
21 diffuse large b-cell lymphoma of the central nervous system 10.2 ARSA PSAP
22 follicular cholangitis and pancreatitis 10.2 ARSA PSAP
23 primary cutaneous anaplastic large cell lymphoma 10.2 ARSA PSAP
24 seizures, benign familial infantile, 1 10.1 CTSA HEXA
25 sickle cell disease 10.1
26 nephronophthisis 10.1 CTSA VIM
27 fucosidosis 10.1 CTSA HEXA
28 gaucher disease, type ii 10.1 ARSA HEXA PSAP
29 mitochondrial dna depletion syndrome 1 10.1 ARSA HEXA PSAP
30 partial motor epilepsy 10.1 HEXA NEU1 PSAP
31 hypothalamic disease 10.1 ARSA HEXA PSAP
32 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 10.1 GM2A NEU1 PSAP
33 hypertelorism, preauricular sinus, punctal pits, and deafness 10.1 ARSA PSAP
34 megakaryocytic leukemia 10.1 CTSA HEXA
35 myasthenia gravis 10.1 CTSA NEU1
36 severe combined immunodeficiency due to ada deficiency 10.1 CTSA NEU1
37 myopia 23, autosomal recessive 10.1 CTSA HEXA
38 shigellosis 10.0 HEXA SMN1
39 bipolar ll disorder 10.0 HEXA SMN1
40 spina bifida occulta 10.0 ARSA CTSA PSAP
41 hyperinsulinemic hypoglycemia, familial, 4 10.0 CTSA HEXA
42 mononeuritis of lower limb 10.0 ARSA HEXA HEXB PSAP
43 malignant fibrous histiocytoma of bone 10.0 CTSA NEU1 PSAP
44 nasopharyngeal carcinoma 2 10.0 CTSA NEU1 PSAP
45 choroiditis 10.0
46 friedreich ataxia 10.0
47 fructose intolerance 10.0
48 phenylketonuria 10.0
49 retinitis 10.0
50 pick disease 10.0

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 by clinical synopsis from OMIM:

272800

Clinical features from OMIM:

272800

Human phenotypes related to Tay-Sachs Disease:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 seizures 56 32 Very frequent (99-80%) HP:0001250
3 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
4 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
5 spasticity 56 32 Frequent (79-30%) HP:0001257
6 hyperreflexia 56 32 Very frequent (99-80%) HP:0001347
7 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
8 developmental regression 56 32 Very frequent (99-80%) HP:0002376
9 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
10 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
11 splenomegaly 56 32 Frequent (79-30%) HP:0001744
12 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
13 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
14 optic atrophy 56 32 Frequent (79-30%) HP:0000648
15 blindness 56 32 Very frequent (99-80%) HP:0000618
16 cherry red spot of the macula 56 32 Very frequent (99-80%) HP:0010729
17 abnormality of movement 56 32 Very frequent (99-80%) HP:0100022
18 myotonia 56 32 Frequent (79-30%) HP:0002486
19 hemiplegia/hemiparesis 56 32 Very frequent (99-80%) HP:0004374
20 intellectual disability, progressive 56 32 Very frequent (99-80%) HP:0006887
21 psychomotor deterioration 56 32 Very frequent (99-80%) HP:0002361
22 increased muscle lipid content 56 32 Very frequent (99-80%) HP:0009058
23 visual impairment 56 Very frequent (99-80%)
24 dementia 32 HP:0000726
25 aspiration 32 HP:0002835
26 apathy 32 HP:0000741
27 poor head control 32 HP:0002421
28 exaggerated startle response 32 HP:0002267
29 gm2-ganglioside accumulation 32 HP:0003495

UMLS symptoms related to Tay-Sachs Disease:


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

MGI Mouse Phenotypes related to Tay-Sachs Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 ARSA CTSA GM2A HEXA HEXB NEU1
2 hematopoietic system MP:0005397 9.91 ARSA CTSA HEXB HHEX NEU1 PSAP
3 nervous system MP:0003631 9.86 ARSA GM2A HEXA HEXB HHEX NEU1
4 liver/biliary system MP:0005370 9.8 CTSA HEXA HEXB HHEX NEU1 PSAP
5 renal/urinary system MP:0005367 9.55 HEXA HEXB NEU1 PSAP CTSA
6 respiratory system MP:0005388 9.43 CTSA HHEX MGEA5 NEU1 PSAP VIM
7 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 51)
id 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 Phase 4,Phase 3,Phase 2 19130-96-2 1374
3 Anti-HIV Agents Phase 4,Phase 3,Phase 2
4 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
5 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
6 Antiviral Agents Phase 4,Phase 3,Phase 2
7 Cardiac Glycosides Phase 4,Phase 3,Phase 2
8 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2
9 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
10
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
11
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 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 Alkylating Agents Phase 2, Phase 3
15 Antilymphocyte Serum Phase 2, Phase 3
16 Antineoplastic Agents, Alkylating Phase 2, Phase 3
17 Antirheumatic Agents Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Methylprednisolone acetate Phase 2, Phase 3
20 Methylprednisolone Hemisuccinate Phase 2, Phase 3
21 Prednisolone acetate Phase 2, Phase 3
22 Prednisolone hemisuccinate Phase 2, Phase 3
23 Prednisolone phosphate Phase 2, Phase 3
24
Pyrimethamine Approved, Vet_approved Phase 1, Phase 2 58-14-0 4993
25
alemtuzumab Approved, Investigational Phase 2 216503-57-0
26
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
27
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
28
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
29
Hydroxyurea Approved Phase 2 127-07-1 3657
30
Melphalan Approved Phase 2 148-82-3 4053 460612
31
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
32
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
33
leucovorin Approved, Nutraceutical Phase 1, Phase 2 58-05-9 54575, 6560146 143
34 tannic acid Approved, Nutraceutical Phase 2
35 Antimalarials Phase 1, Phase 2
36 Antiparasitic Agents Phase 1, Phase 2
37 Antiprotozoal Agents Phase 1, Phase 2
38 Folic Acid Antagonists Phase 1, Phase 2
39 Vitamin B Complex Phase 1, Phase 2
40 Antifungal Agents Phase 2
41 Antimetabolites Phase 2
42 Antimetabolites, Antineoplastic Phase 2
43 Calcineurin Inhibitors Phase 2
44 Dermatologic Agents Phase 2
45 Nucleic Acid Synthesis Inhibitors Phase 2
46 Folate Nutraceutical Phase 1, Phase 2
47 Vitamin B9 Nutraceutical Phase 1, Phase 2
48
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
49
Mycophenolic acid Approved 24280-93-1 446541
50 Anti-Bacterial Agents

Interventional clinical trials:

(show all 22)
id Name Status NCT ID Phase
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4
2 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3
3 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
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
6 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis Completed NCT00418847 Phase 2
7 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2
8 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
9 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
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
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 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
15 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092
16 Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD) Completed NCT01023048
17 Clinical Use of Parental Support To Detect Single Gene Mutations Completed NCT01197872
18 A Natural History of Late Onset Tay-Sachs Disease Recruiting NCT02851862
19 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
20 Biomarker for GM1/GM2 - Gangliosidoses Recruiting NCT02298647
21 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
22 Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. Active, not recruiting NCT01999257

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:

id Genetic test Affiliating Genes
1 Tay-Sachs Disease 29 24 HEXA
2 Hexosaminidase a Deficiency 24 HEXA

Anatomical Context for Tay-Sachs Disease

MalaCards organs/tissues related to Tay-Sachs Disease:

39
Brain, Testes, Spinal Cord, Eye, Bone, Retina, Kidney

Publications for Tay-Sachs Disease

Articles related to Tay-Sachs Disease:

(show top 50) (show all 514)
id Title Authors Year
1
Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population. ( 28503624 )
2017
2
Tay-Sachs disease mutations in HEXA target the I+ chain of hexosaminidase A to endoplasmic reticulum-associated degradation. ( 27682588 )
2016
3
Identification of a patient affected by "Juvenile-chronic" Tay Sachs disease in South Italy. ( 27351546 )
2016
4
Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations. ( 27033294 )
2016
5
CT and MRI findings in a case of infantile form of GM2 gangliosidosis: Tay-Sachs disease. ( 27841233 )
2016
6
NOVEL VECTOR DESIGN AND HEXOSAMINIDASE VARIANT ENABLING SELF-COMPLEMENTARY AAV FOR THE TREATMENT OF TAY-SACHS DISEASE. ( 27197548 )
2016
7
Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient. ( 27879213 )
2016
8
Clinical, biochemical, and molecular findings in a Colombian patient with Tay-Sachs disease. ( 26874567 )
2016
9
Thalamic T2 hypointensity: a diagnostic clue for Tay-Sachs disease. ( 26338066 )
2015
10
Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. ( 26264938 )
2015
11
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
12
Mortality incidence estimation using federal death certificate and natality data with an application to Tay-Sachs disease. ( 26080753 )
2015
13
Tay-Sachs disease: current perspectives from Australia. ( 25653550 )
2015
14
Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene. ( 25860343 )
2015
15
Three novel mutations in Iranian patients with Tay-Sachs disease. ( 24518553 )
2014
16
GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series). ( 25143775 )
2014
17
Ashkenazi Jewish population screening for Tay-Sachs disease: The International and Australian experience. ( 24923490 )
2014
18
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 )
2014
19
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
20
Correlation of augmented startle reflex with brainstem electrophysiological responses in Tay-Sachs disease. ( 24534057 )
2014
21
Fundus autofluorescence in Tay-Sachs disease. ( 24852271 )
2014
22
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. ( 27896118 )
2014
23
Choroidal coloboma in a case of tay-sachs disease. ( 25295204 )
2014
24
High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up. ( 23893770 )
2013
25
GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. ( 23266199 )
2013
26
Atypical presentation of Late-Onset Tay-Sachs Disease. ( 24327357 )
2013
27
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
28
Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews. ( 23230938 )
2012
29
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. ( 22723944 )
2012
30
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
31
Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population. ( 21796138 )
2011
32
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
33
Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease. ( 22205997 )
2011
34
Assessing the potential success of cystic fibrosis carrier screening: lessons learned from Tay-Sachs disease and beta-thalassemia. ( 19864874 )
2010
35
Tay-Sachs disease in Jacob sheep. ( 20817517 )
2010
36
Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay-Sachs disease. ( 19278800 )
2010
37
Re: Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study. ( 19240988 )
2009
38
Late-onset Tay-Sachs disease presenting as a childhood stutter. ( 19091716 )
2009
39
Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease. ( 19644708 )
2009
40
Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. ( 19346952 )
2009
41
'Cherry red spot' in a patient with Tay-Sachs disease: case report. ( 19820796 )
2009
42
Spontaneous appearance of Tay-Sachs disease in an animal model. ( 18693054 )
2008
43
Serial MR imaging and 1H-MR spectroscopy in monozygotic twins with Tay-Sachs disease. ( 19294598 )
2008
44
Rapid detection of fetal Mendelian disorders: Tay-Sachs disease. ( 18425478 )
2008
45
Structural consequences of amino acid substitutions causing Tay-Sachs disease. ( 18490185 )
2008
46
Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. ( 18642377 )
2008
47
Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study. ( 18618288 )
2008
48
Mechanism of interrupted saccades in patients with late-onset Tay-Sachs disease. ( 18718355 )
2008
49
Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England. ( 17259242 )
2007
50
Identification of 7th hexosaminidase A mutation of Tay-Sachs disease in the Turkish population. ( 17990595 )
2007

Variations for Tay-Sachs Disease

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

66 (show all 49)
id 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
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
46 HEXA p.Asp322Tyr VAR_077499 rs772180415
47 HEXA p.Arg393Pro VAR_077500
48 HEXA p.Glu462Val VAR_077501 rs863225434
49 HEXA p.Gly478Arg VAR_077502

ClinVar genetic disease variations for Tay-Sachs Disease:

6 (show top 50) (show all 98)
id Gene Variation Type Significance SNP ID Assembly Location
1 HEXA NM_000520.5(HEXA): c.1351C> G (p.Leu451Val) single nucleotide variant Pathogenic rs28940871 GRCh37 Chromosome 15, 72638646: 72638646
2 HEXA NM_000520.5(HEXA): c.1274_1277dupTATC (p.Tyr427Ilefs) duplication Pathogenic rs387906309 GRCh37 Chromosome 15, 72638921: 72638924
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.-2564_253+5128delinsG indel Pathogenic GRCh38 Chromosome 15, 72370592: 72378536
5 HEXA NM_000520.5(HEXA): c.1444G> A (p.Glu482Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121907952 GRCh37 Chromosome 15, 72637869: 72637869
6 HEXA NM_000520.5(HEXA): c.346+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs797044432 GRCh38 Chromosome 15, 72356524: 72356524
7 HEXA NM_000520.5(HEXA): c.1510delC (p.Arg504Alafs) deletion Pathogenic rs797044433 GRCh38 Chromosome 15, 72345462: 72345462
8 HEXA NM_000520.5(HEXA): c.1511G> A (p.Arg504His) single nucleotide variant Pathogenic/Likely pathogenic rs121907955 GRCh37 Chromosome 15, 72637802: 72637802
9 HEXA NM_000520.5(HEXA): c.533G> A (p.Arg178His) single nucleotide variant Pathogenic rs28941770 GRCh37 Chromosome 15, 72645446: 72645446
10 HEXA NM_000520.5(HEXA): c.532C> T (p.Arg178Cys) single nucleotide variant Pathogenic rs121907953 GRCh37 Chromosome 15, 72645447: 72645447
11 HEXA NM_000520.5(HEXA): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs121907954 GRCh37 Chromosome 15, 72642859: 72642859
12 HEXA NM_000520.5(HEXA): c.1496G> A (p.Arg499His) single nucleotide variant Pathogenic/Likely pathogenic rs121907956 GRCh37 Chromosome 15, 72637817: 72637817
13 HEXA NM_000520.5(HEXA): c.509G> A (p.Arg170Gln) single nucleotide variant Pathogenic rs121907957 GRCh37 Chromosome 15, 72645470: 72645470
14 HEXA NM_000520.5(HEXA): c.1260G> C (p.Trp420Cys) single nucleotide variant Pathogenic rs121907958 GRCh37 Chromosome 15, 72638938: 72638938
15 HEXA NM_000520.5(HEXA): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs121907962 GRCh37 Chromosome 15, 72647903: 72647903
16 HEXA NM_000520.5(HEXA): c.1177C> T (p.Arg393Ter) single nucleotide variant Pathogenic rs121907963 GRCh37 Chromosome 15, 72639021: 72639021
17 HEXA NM_000520.5(HEXA): c.1510C> T (p.Arg504Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942071 GRCh37 Chromosome 15, 72637803: 72637803
18 HEXA HEXA, IVS4, G-T, -1 single nucleotide variant Pathogenic
19 HEXA NM_000520.5(HEXA): c.629C> T (p.Ser210Phe) single nucleotide variant Pathogenic rs121907961 GRCh37 Chromosome 15, 72643517: 72643517
20 HEXA HEXA, 5-BP DEL, TCTCC, IVS9 deletion Pathogenic
21 HEXA HEXA, 2-BP DEL, TG, EX5 deletion Pathogenic
22 HEXA NM_000520.5(HEXA): c.78G> A (p.Trp26Ter) single nucleotide variant Pathogenic rs121907964 GRCh37 Chromosome 15, 72668236: 72668236
23 HEXA NM_000520.5(HEXA): c.533G> T (p.Arg178Leu) single nucleotide variant Pathogenic rs28941770 GRCh37 Chromosome 15, 72645446: 72645446
24 HEXA HEXA, IVS2, G-A, +1 single nucleotide variant Pathogenic
25 HEXA NM_000520.5(HEXA): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121907965 GRCh37 Chromosome 15, 72668313: 72668313
26 HEXA NM_000520.5(HEXA): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121907966 GRCh37 Chromosome 15, 72637818: 72637818
27 HEXA NM_000520.5(HEXA): c.1453T> C (p.Trp485Arg) single nucleotide variant Pathogenic rs121907968 GRCh37 Chromosome 15, 72637860: 72637860
28 HEXA HEXA, 1-BP INS insertion Pathogenic
29 HEXA NM_000520.5(HEXA): c.540C> G (p.Tyr180Ter) single nucleotide variant Pathogenic rs121907969 GRCh37 Chromosome 15, 72645439: 72645439
30 HEXA NM_000520.5(HEXA): c.1073+1G> A single nucleotide variant Pathogenic rs76173977 GRCh37 Chromosome 15, 72640388: 72640388
31 HEXA NM_000520.5(HEXA): c.962_964delGAG (p.Gly321del) deletion Pathogenic rs797044434 GRCh38 Chromosome 15, 72349101: 72349103
32 HEXA NM_000520.5(HEXA): c.772G> C (p.Asp258His) single nucleotide variant Pathogenic rs121907971 GRCh37 Chromosome 15, 72642892: 72642892
33 HEXA NM_000520.5(HEXA): c.508C> T (p.Arg170Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121907972 GRCh37 Chromosome 15, 72645471: 72645471
34 HEXA HEXA, 2-BP DEL, CODON 310 deletion Pathogenic
35 HEXA NM_000520.5(HEXA): c.672+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs387906311 GRCh37 Chromosome 15, 72643473: 72643473
36 HEXA NM_000520.5(HEXA): c.632T> C (p.Phe211Ser) single nucleotide variant Pathogenic rs121907974 GRCh37 Chromosome 15, 72643514: 72643514
37 HEXA NM_000520.5(HEXA): c.380T> G (p.Leu127Arg) single nucleotide variant Pathogenic rs121907975 GRCh37 Chromosome 15, 72647932: 72647932
38 HEXA NM_000520.5(HEXA): c.611A> G (p.His204Arg) single nucleotide variant Pathogenic rs121907976 GRCh37 Chromosome 15, 72643535: 72643535
39 HEXA HEXA, 2-BP DEL, TT, CODON 142 deletion Pathogenic
40 HEXA NM_000520.5(HEXA): c.902T> G (p.Met301Arg) single nucleotide variant Pathogenic rs121907977 GRCh37 Chromosome 15, 72641504: 72641504
41 HEXA NM_000520.5(HEXA): c.1360G> A (p.Gly454Ser) single nucleotide variant Pathogenic rs121907978 GRCh37 Chromosome 15, 72638637: 72638637
42 HEXA NM_000520.5(HEXA): c.116T> G (p.Leu39Arg) single nucleotide variant Pathogenic rs121907979 GRCh37 Chromosome 15, 72668198: 72668198
43 HEXA NM_000520.5(HEXA): c.1176G> A (p.Trp392Ter) single nucleotide variant Pathogenic rs267606862 GRCh37 Chromosome 15, 72639022: 72639022
44 HEXA HEXA, IVS7, G-A, +1 single nucleotide variant Pathogenic
45 HEXA NM_000520.5(HEXA): c.805+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs121907980 GRCh37 Chromosome 15, 72642858: 72642858
46 HEXA NM_000520.5(HEXA): c.173G> A (p.Cys58Tyr) single nucleotide variant Pathogenic rs387906949 GRCh37 Chromosome 15, 72668141: 72668141
47 GM2A NM_000405.4(GM2A): c.333delC (p.Cys112Valfs) deletion Pathogenic rs587779405 GRCh37 Chromosome 5, 150646381: 150646381
48 HEXA NM_000520.5(HEXA): c.1305C> T (p.Tyr435=) single nucleotide variant Pathogenic/Likely pathogenic rs587779406 GRCh37 Chromosome 15, 72638893: 72638893
49 HEXA NM_000520.5(HEXA): c.718_719insT (p.Lys240Ilefs) insertion Pathogenic rs587779407 GRCh37 Chromosome 15, 72642945: 72642946
50 HEXA NM_000520.5(HEXA): c.1528C> T (p.Arg510Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204585 GRCh37 Chromosome 15, 72636480: 72636480

Expression for Tay-Sachs Disease

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

Pathways for Tay-Sachs Disease

GO Terms for Tay-Sachs Disease

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 ARSA CTSA ETFA GM2A HEXA HEXB
2 lysosome GO:0005764 9.5 ARSA CTSA GM2A HEXA HEXB NEU1
3 azurophil granule lumen GO:0035578 9.46 ARSA CTSA GM2A HEXB
4 azurophil granule GO:0042582 9.32 HEXA HEXB
5 lysosomal lumen GO:0043202 9.17 ARSA CTSA GM2A HEXA HEXB NEU1

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.73 ARSA CTSA GM2A HEXB NEU1 PSAP
2 metabolic process GO:0008152 9.72 ARSA HEXA HEXB MGEA5 NEU1
3 carbohydrate metabolic process GO:0005975 9.69 HEXA HEXB NEU1
4 positive regulation of catalytic activity GO:0043085 9.54 CTSA GM2A PSAP
5 neuromuscular process controlling balance GO:0050885 9.52 GM2A HEXB
6 sphingolipid metabolic process GO:0006665 9.49 GM2A PSAP
7 lipid storage GO:0019915 9.48 GM2A HEXB
8 hyaluronan catabolic process GO:0030214 9.46 HEXA HEXB
9 chondroitin sulfate catabolic process GO:0030207 9.43 HEXA HEXB
10 keratan sulfate catabolic process GO:0042340 9.4 HEXA HEXB
11 oligosaccharide catabolic process GO:0009313 9.33 GM2A HEXB NEU1
12 glycosphingolipid metabolic process GO:0006687 9.17 ARSA CTSA GM2A HEXA HEXB NEU1
13 ganglioside catabolic process GO:0006689 9.13 GM2A HEXB NEU1

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.87 ARSA CTSA GM2A HEXA HEXB MGEA5
2 acetylglucosaminyltransferase activity GO:0008375 9.37 HEXA HEXB
3 enzyme activator activity GO:0008047 9.33 CTSA GM2A PSAP
4 exo-alpha-sialidase activity GO:0004308 9.26 CTSA NEU1
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 HEXA HEXB MGEA5 NEU1
6 beta-N-acetylhexosaminidase activity GO:0004563 8.8 GM2A HEXA HEXB

Sources for Tay-Sachs Disease

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
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70 UMLS via Orphanet
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