tay-sachs disease

Preferred Label : tay-sachs disease;

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.;

MeSH synonym : gm2 gangliosidosis, type i; tay sachs disease, b variant; gangliosidosis gm2, b variant; gangliosidosis gm2, type i; gm2 gangliosidosis, b variant; hexosaminidase a deficiency disease; g(m2) gangliosidosis, type i; GM2 Gangliosidosis, Type 1; B Variant GM2 Gangliosidosis; Gangliosidosis GM2 , Type 1; Sphingolipidosis, Tay-Sachs; Sphingolipidosis, Tay Sachs; Tay-Sachs Sphingolipidosis; deficiency disease hexosaminidase a; gangliosidosis g(m2), type i; tay-sachs disease, b variant; type I GM2-Gangliosidosis; tay sachs disease; B variant GM2-Gangliosidosis; B variant GM2-Gangliosidoses; GM2-Gangliosidosis, B variant; GM2-Gangliosidosis, type I;

CISMeF synonym : Tay-Sachs; tay-sachs's disease; alpha-Subunit deficiency, hexosaminidase (Variant B); deficiencies, hexosaminidase A; deficiencies, hexosaminidase alpha-Subunit (Variant B); GM2-Gangliosidoses, B variant; GM2-Gangliosidoses, type I; hexosaminidase A deficiencies; hexosaminidase alpha-Subunit deficiencies (Variant B); I GM2-Gangliosidoses, type; I GM2-Gangliosidosis, type; type I GM2-Gangliosidoses; variant GM2-Gangliosidoses, B; variant GM2-Gangliosidosis, B;

MeSH hyponym : amaurotic familial idiocy; Familial Amaurotic Idiocy; Amaurotic Idiocy, Familial;

Related MeSH term : hexosaminidase alpha-Subunit deficiency (Variant B); Deficiency, Hexosaminidase alpha-Subunit (Variant B); Hexosaminidase alpha Subunit Deficiency (Variant B); Hexosaminidase A Deficiency; Deficiency, Hexosaminidase A; HexA Deficiency;

MeSH annotation : TAY-SACHS DISEASE, AB VARIANT is also available;

Wikipedia link : https://en.wikipedia.org/wiki/Tay-sachs;

Details

Origin ID

D013661;

UMLS CUI

C0039373;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Amaurotic familial idiocy [MedDRA LLT]
- Cerebral lipidosis (disorder) [SNOMED CT concept]
- GM2 gangliosidosis [ICD-10 Sub-category]
- GM2 gangliosidosis [ICD-10 Sub-category (who)]
- cerebral lipidosis, nos [SNOMED Notion]
- hexosaminidase subunit alpha [ORDO Gene]
- hexosaminidase subunit alpha [HGNC gene]
- tay sachs disease [EMDN type]
- tay sachs disease [medical devices type]
Currated CISMeF NLP mapping
- Tay Sachs disease [Disease (Nov.)]
- Tay-Sachs Disease [NCIt concept]
- Tay-Sachs disease [PASCAL descriptor]
- Tay-Sachs disease [DO Concept]
- Tay-Sachs disease [ICD-11 More detail]
- Tay-Sachs disease [MedDRA LLT]
- Tay-Sachs disease [ACR pathology]
- Tay-Sachs disease [ACR pathology]
- Tay-Sachs disease [Radlex concept]
- Tay-Sachs disease [ORDO Disease]
- Tay-Sachs disease (disorder) [SNOMED CT concept]
- Tay-sachs disease [OMIM Phenotype]
- tay-sachs disease [MedDRA Preferred Term]
- tay-sachs disease [MedlinePlus Topic]
- tay-sachs disease [SNOMED Notion]
DO Cross reference
- Tay-Sachs disease [DO Concept]
Indexing information
- HEXA protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Cerebral lipidosis with dementia [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Metabolic disease with dementia [ORDO Disease]
- Metabolic disease with macular cherry-red spot [ORDO Disease]
- Nervous system anomaly with eye involvement [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare dementia [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
MeSH Descriptor(s) used for indexing
- beta-Hexosaminidase alpha chain [MeSH Descriptor]
MedlinePlus topic(s)
- tay-sachs disease [MedlinePlus Topic]
ORDO relation(s)
- Tay-Sachs disease [ORDO Disease]
Record concept(s)
- Tay-Sachs disease [MeSH concept]
- amaurotic familial idiocy [MeSH concept]
- hexosaminidase alpha-Subunit deficiency (Variant B) [MeSH concept]
Related MeSH Supplementary Concept(s)
- Gm2-Gangliosidosis, adult chronic type [MeSH Supplementary Concept]
- Gm2-Gangliosidosis, variant B1 [MeSH Supplementary Concept]
- Tay-Sachs disease, Pseudo-AB variant [MeSH Supplementary Concept]
- Tay-Sachs disease, juvenile [MeSH Supplementary Concept]
- Tay-Sachs disease, variant B1 [MeSH Supplementary Concept]
- hexosaminidase A deficiency, adult type [MeSH Supplementary Concept]
See also
- beta-n-acetylhexosaminidases [MeSH Descriptor]
- g(m2) ganglioside [MeSH Descriptor]
- hexosaminidase A [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tay Sachs disease [Disease (Nov.)]
- Tay-Sachs Disease [NCIt concept]
- Tay-Sachs disease [ORDO Disease]
- Tay-Sachs disease [Radlex concept]
- Tay-Sachs disease [DO Concept]
- Tay-Sachs disease [ACR pathology]
- Tay-Sachs disease [ACR pathology]
- Tay-Sachs disease [PASCAL descriptor]
- Tay-Sachs disease [ICD-11 More detail]
- Tay-Sachs disease [MedDRA LLT]
- Tay-Sachs disease (disorder) [SNOMED CT concept]
- Tay-sachs disease [OMIM Phenotype]
- tay-sachs disease [MedDRA Preferred Term]
- tay-sachs disease [SNOMED Notion]
- tay-sachs disease [MedlinePlus Topic]
Validated automatic mappings to BTNT
- B variant of hexosaminidase A deficiency, infantile form [ICD-11 More detail]

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