sandhoff disease

Preferred Label : sandhoff disease;

MeSH definition : An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.;

MeSH synonym : gm2 gangliosidosis, type ii; gangliosidosis gm2, type ii; Sandhoff Jatzkewitz Pilz Disease; GM2 Gangliosidosis, Type 2; hexosaminidase a and b deficiency disease; g(m2) gangliosidosis, type ii; gangliosidosis g(m2), type ii; sandhoff's disease; sandhoffs disease; deficiency disease, hexosaminidase a and b; Sandhoff-Jatzkewitz-Pilz Disease; Disease, Sandhoff-Jatzkewitz-Pilz; hexosaminidases A and B deficiency; GM2-Gangliosidosis, type II; GM2-Gangliosidoses, type II; type II GM2-Gangliosidoses; type II GM2-Gangliosidosis;

CISMeF synonym : Sandhoff;

MeSH hyponym : infantile sandhoff disease; adult sandhoff disease; juvenile sandhoff disease; Sandhoff Disease, Infantile; Sandhoff Disease, Juvenile; Sandhoff Disease, Adult; Sandhoff Disease, Juvenile Type; Sandhoff Disease, Adult Type; Sandhoff Disease, Infantile Type;

Related MeSH term : total hexosaminidase deficiency; Deficiencies, Total Hexosaminidase; Deficiency, Total Hexosaminidase; Hexosaminidase Deficiencies, Total; Hexosaminidase Deficiency, Total; Total Hexosaminidase Deficiencies; beta-Hexosaminidase-beta-Subunit Deficiency; Deficiencies, beta-Hexosaminidase-beta-Subunit; Deficiency, beta-Hexosaminidase-beta-Subunit; beta Hexosaminidase beta Subunit Deficiency; beta-Hexosaminidase-beta-Subunit Deficiencies;

Details

Origin ID

D012497;

UMLS CUI

C0036161;

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)
- Sandhoff disease [MedDRA LLT]
Currated CISMeF NLP mapping
- GM2 gangliosidosis [ICD-10 Sub-category]
- GM2 gangliosidosis [ICD-10 Sub-category (who)]
- Sandhoff Disease [NCIt concept]
- Sandhoff disease [PASCAL descriptor]
- Sandhoff disease [DO Concept]
- Sandhoff disease [Disease (Nov.)]
- Sandhoff disease [ICD-11 More detail]
- Sandhoff disease [OMIM Phenotype]
- Sandhoff disease [ORDO Disease]
- Sandhoff disease (disorder) [SNOMED CT concept]
- Sandhoff disease, adult form [ORDO Disease]
- Sandhoff disease, infantile form [ORDO Disease]
- Sandhoff disease, juvenile form [ORDO Disease]
- sandhoff disease [SNOMED Notion]
DO Cross reference
- Sandhoff disease [DO Concept]
Has phenotype(s) (HPO)
- Blindness in infancy or very early childhood [HPO term]
- Progressive mental and motor deterioration [HPO term]
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 beta chain [MeSH Descriptor]
- hexosaminidase B [MeSH Descriptor]
ORDO relation(s)
- Sandhoff disease [ORDO Disease]
Record concept(s)
- adult sandhoff disease [MeSH concept]
- infantile sandhoff disease [MeSH concept]
- juvenile sandhoff disease [MeSH concept]
- sandhoff disease [MeSH concept]
- total hexosaminidase deficiency [MeSH concept]
See also
- beta-n-acetylhexosaminidases [MeSH Descriptor]
- g(m2) ganglioside [MeSH Descriptor]
- hexosaminidase A [MeSH Descriptor]
See also (suggested by CISMeF)
- hexosaminidase B [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sandhoff Disease [NCIt concept]
- Sandhoff disease [OMIM Phenotype]
- Sandhoff disease [ORDO Disease]
- Sandhoff disease [DO Concept]
- Sandhoff disease [PASCAL descriptor]
- Sandhoff disease [Disease (Nov.)]
- Sandhoff disease [ICD-11 More detail]
- Sandhoff disease [MedDRA LLT]
- Sandhoff disease (disorder) [SNOMED CT concept]
- sandhoff disease [SNOMED Notion]
Validated automatic mappings to BTNT
- Adult Sandhoff disease [ICD-11 More detail]
- Infantile Sandhoff disease [ICD-11 More detail]
- Juvenile Sandhoff disease [ICD-11 More detail]
Validated automatic mappings to NTBT
- GM2 gangliosidosis [Disease (Nov.)]
- GM2 gangliosidosis [ICD-11 More detail]

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