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Tay-Sachs Disease (CUI C0039373) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0039373

NCI Thesaurus Code: C85184  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the HEXA gene. It is characterized by deficiency of beta-hexosaminidase A, resulting in accumulation of gangliosides in the neurons of the brain and spinal cord. Signs and symptoms include progressive deterioration of the mental and physical abilities early in life, accompanied by blindness, deafness, muscle atrophy, and paralysis.

GARD Definition: Gangliosidosis (GM2) type 1, also known as 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. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Tay-Sachs disease is a rare, inherited 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

CSP Definition: autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase A is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina; this condition is strongly associated with Ashkenazic Jewish ancestry.

MSH Definition: An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.

Synonyms & Abbreviations: (see Synonym Details)
B variant GM2 gangliosidosis
B Variant GM2-Gangliosidoses
B Variant GM2-Gangliosidosis
DEFIC DIS HEXOSAMINIDASE A
Deficiency Disease Hexosaminidase A
Deficiency, Hexosaminidase alpha-Subunit (Variant B)
Deficiency, Hexosaminidase A
Disease, Tay-Sachs
G(M2) Gangliosidosis, Type I
Gangliosidosis G(M2), Type I
GANGLIOSIDOSIS GM 02 B VARIANT
GANGLIOSIDOSIS GM 02 TYPE I
Gangliosidosis GM2 , type 1
GANGLIOSIDOSIS GM2 TYPE 1
gangliosidosis GM2 type I
Gangliosidosis GM2, B Variant
Gangliosidosis GM2, Type I
GM GANGLIOSIDOSIS 02 TYPE I
GM2 GANGLIOSIDOSIS TYPE I
GM2 Gangliosidosis, B Variant
GM2 gangliosidosis, B, B1 variant
GM2 gangliosidosis, type 1
GM2 Gangliosidosis, Type I
GM2-Gangliosidosis, B Variant
GM2-Gangliosidosis, Type I
GM<sub>2</sub> gangliosidosis, type 1
GM>2< gangliosidosis, type 1
HexA deficiency
HEXOSAMINIDASE A DEFIC DIS
Hexosaminidase A Deficiency Disease
hexosaminidase A deficiency
Hexosaminidase alpha Subunit Deficiency (Variant B)
Hexosaminidase alpha-subunit deficiency (variant B)
INFANTILE GANGLIOSIDE LIPIDOSIS
LIPIDOSIS, GANGLIOSIDE, INFANTILE
Severe hexosaminidase A deficiency
Sphingolipidosis, Tay Sachs
Sphingolipidosis, Tay-Sachs
TAY SACH'S DISEASE
Tay Sachs Disease, B Variant
Tay Sachs disease
TAY SACHS DIS
Tay-Sachs disease (disorder)
Tay-Sachs Disease [Disease/Finding]
Tay-Sachs Disease, B Variant
TAY-SACHS DISEASE
Tay-Sachs Sphingolipidosis
TSD
Type I GM2-Gangliosidosis

External Source Codes: 
NCI Thesaurus Code C85184 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN TAY-SACHS DISEASE, AB VARIANT is also available MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID X40V1 SNOMEDCT_US
DATE_CREATED 10/15/2002 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-8690 CSP
DISEASE_IDENTIFIER_ID 34211 GARD
DISEASE_IDENTIFIER_ID 6067 GARD
DISEASE_IDENTIFIER_ID 6068 GARD
DISEASE_IDENTIFIER_ID 6069 GARD
DISEASE_IDENTIFIER_ID 6070 GARD
DISEASE_IDENTIFIER_ID 6071 GARD
DISEASE_IDENTIFIER_ID 6072 GARD
DISEASE_IDENTIFIER_ID 6073 GARD
DISEASE_IDENTIFIER_ID 6074 GARD
DX 19790101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D001619 MSH
GENELOCUS ,1,5,q,2,3,-,q,2,4, OMIM
GENESYMBOL HEXA OMIM
GENESYMBOL TSD OMIM
HAS_GARD_PAGE true GARD
HN 1979; for AMAUROTIC FAMILIAL IDIOCY use LIPOIDOSIS 1985-2006 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2007-01-30T00:00:00 GARD
MDA 19780522 MSH
MESH_DEFINITION An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry. NDFRT
MESH_DUI D013661 NDFRT
MESH_NAME Tay-Sachs Disease NDFRT
MESH_UI M0021080 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.228.140.163.100.435.825.300.300.500 MSH
MN C16.320.565.189.435.825.300.300.500 MSH
MN C16.320.565.398.641.803.350.300.850 MSH
MN C16.320.565.595.554.825.300.300.840 MSH
MN C18.452.132.100.435.825.300.300.500 MSH
MN C18.452.584.687.803.350.300.850 MSH
MN C18.452.648.189.435.825.300.300.500 MSH
MN C18.452.648.398.641.803.350.300.850 MSH
MN C18.452.648.595.554.825.300.300.840 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MOVED_FROM 230700 OMIM
MOVED_FROM 230710 OMIM
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/taysachsdisease.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/taysachsdisease.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000002901 NDFRT
ORDER_NO 04631 ICD10CM
PM 1979; see AMAUROTIC FAMILIAL IDIOCY 1963-1978; for AMAUROTIC FAMILIAL IDIOCY see LIPOIDOSIS 1985-2006, see AMAUROTIC FAMILIAL IDIOCY 1963-1978 MSH
PRIMARY_PATH 10043147$10024579$10027424$10010331$Tay-Sachs disease$Lysosomal storage disorders$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7737/tay-sachs-disease/resources/1 GARD
RXAUI 3144787 RXNORM
RXAUI 3161982 RXNORM
RXAUI 3163646 RXNORM
RXAUI 3164765 RXNORM
RXAUI 3164777 RXNORM
RXAUI 3172865 RXNORM
RXAUI 3247335 RXNORM
RXAUI 3247337 RXNORM
RXAUI 3286762 RXNORM
RXAUI 3287332 RXNORM
RXAUI 3287333 RXNORM
RXAUI 3287357 RXNORM
RXAUI 3287358 RXNORM
RXAUI 3288697 RXNORM
RXAUI 3288767 RXNORM
RXAUI 5038672 RXNORM
RXAUI 5039387 RXNORM
RXCUI 1022496 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 111385000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E75.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E75.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E75.02 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E75.02 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X40V1 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T040128 MSH
TERMUI T040129 MSH
TERMUI T040130 MSH
TERMUI T040131 MSH
TERMUI T370736 MSH
TERMUI T370737 MSH
TERMUI T370738 MSH
TERMUI T646886 MSH
TERMUI T646887 MSH
TERMUI T649281 MSH
TERMUI T752846 MSH
TERMUI T752847 MSH
TERMUI T752848 MSH
TERMUI T752849 MSH
TERMUI T752850 MSH
TERMUI T752851 MSH
TERMUI T825153 MSH
TERMUI T825154 MSH
TERMUI T843877 MSH
TH BIOETHICS (1989) MSH
TH GHR (2014) MSH
TH NLM (1992) MSH
TH NLM (2000) MSH
TH NLM (2007) MSH
TH NLM (2010) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0039373

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