Sandhoff disease

Preferred Label : Sandhoff disease;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gm2-gangliosidosis, type II; Hexosaminidases a and b deficiency;

Included titles and symbols : Sandhoff disease, adult type; Sandhoff disease, juvenile type; Sandhoff disease, infantile type;

Description : Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (272800).;

Inheritance : Autosomal recessive with multiple alleles and compounds;

Prefixed ID : #268800;

Details

Origin ID

268800;

UMLS CUI

C0036161;

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 [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 [MeSH Descriptor]
- sandhoff disease [MeSH concept]
- sandhoff disease [SNOMED Notion]
- sandhoff disease, adult type [MeSH concept]
- sandhoff disease, infantile type [MeSH concept]
- sandhoff disease, juvenile type [MeSH concept]
- total hexosaminidase deficiency [MeSH concept]
DO Cross reference
- Sandhoff disease [DO Concept]
Genes related to phenotype
- Hexosaminidase b [OMIM gene]
HPO term(s)
- Abnormal glycosphingolipid metabolism [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Blindness [HPO term]
- Blindness in infancy or very early childhood [HPO term]
- CNS hypomyelination [HPO term]
- Cardiomegaly [HPO term]
- Cherry red spot of the macula [HPO term]
- Chronic diarrhea [HPO term]
- Coarse facial features [HPO term]
- Death in childhood [HPO term]
- Developmental regression [HPO term]
- Dysarthria [HPO term]
- Episodic abdominal pain [HPO term]
- Exaggerated startle response [HPO term]
- Fasciculations [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hyperhidrosis [HPO term]
- Hyperreflexia [HPO term]
- Hypohidrosis [HPO term]
- Hypotonia [HPO term]
- Impaired temperature sensation [HPO term]
- Impaired thermal sensitivity [HPO term]
- Impotence [HPO term]
- Infantile onset [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Muscle weakness [HPO term]
- Myoclonic seizure [HPO term]
- Orthostatic hypotension [HPO term]
- Progressive mental and motor deterioration [HPO term]
- Progressive psychomotor deterioration [HPO term]
- Reduced beta-hexosaminidase activity [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spasticity [HPO term]
- Upper motor neuron dysfunction [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Sandhoff disease [ORDO Disease]
- Sandhoff disease, adult form [ORDO Disease]
- Sandhoff disease, infantile form [ORDO Disease]
- Sandhoff disease, juvenile form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sandhoff Disease [NCIt concept]
- 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]
- sandhoff disease [MeSH Descriptor]
- sandhoff disease [MeSH concept]
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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