Gm2-gangliosidosis, ab variant

Preferred Label : Gm2-gangliosidosis, ab variant;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tay-sachs disease, ab variant; Hexosaminidase activator deficiency; Ab variant gm2-gangliosidosis; Gm2 activator deficiency;

Description : The GM2-gangliosidoses are a group of disorders caused by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes, mainly of neuronal cells. GM2-gangliosidosis AB variant is characterized by normal hexosaminidase A (HEXA; 606869) and hexosaminidase B (HEXB; 606873) but the inability to form a functional GM2 activator complex. The clinical and biochemical phenotype of the AB variant is very similar to that of classic Tay-Sachs disease (see 272800) (Gravel et al., 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GM2 activator gene (GM2A, 613109.0001);

Laboratory abnormalities : Gm2-ganglioside accumulation in tissues;

Prefixed ID : #272750;

Détails

Origin ID

272750;

UMLS CUI

C0268275;

Automatic exact mappings (from CISMeF team)
- Tay-Sachs disease, Pseudo-AB variant [MeSH Supplementary Concept]
- Tay-Sachs disease, Pseudo-AB variant [MeSH concept]
Broader ORDO disease(s)
- Tay-Sachs disease [ORDO Disease]
Currated CISMeF NLP mapping
- GM2 gangliosidosis AB variant [Disease (Nov.)]
- GM2 gangliosidosis, AB variant [DO Concept]
- GM2 gangliosidosis, AB variant [ORDO Disease]
- GM2-Gangliosidosis, AB Variant [NCIt concept]
- Hexosaminidase activator deficiency [ICD-11 More detail]
- Tay-Sachs disease, AB variant [MeSH Descriptor]
- Tay-Sachs disease, AB variant [MeSH concept]
- Tay-Sachs disease, variant AB (disorder) [SNOMED CT concept]
- tay-sachs disease, variant ab [SNOMED Notion]
DO Cross reference
- GM2 gangliosidosis, AB variant [DO Concept]
Genes related to phenotype
- Gm2 activator [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Apathy [HPO term]
- Aspiration [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cerebral atrophy [HPO term]
- Chorea [HPO term]
- Dementia [HPO term]
- Dystonia [HPO term]
- Exaggerated startle response [HPO term]
- GM2-ganglioside accumulation [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperacusis [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Loss of speech [HPO term]
- Neurodegeneration [HPO term]
- Paralysis [HPO term]
- Poor head control [HPO term]
- Primitive reflex [HPO term]
- Seizure [HPO term]
- Spastic tetraparesis [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- GM2 gangliosidosis, AB variant [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM2 gangliosidosis AB variant [Disease (Nov.)]
- GM2 gangliosidosis, AB variant [ORDO Disease]
- GM2 gangliosidosis, AB variant [DO Concept]
- GM2-Gangliosidosis, AB Variant [NCIt concept]
- Hexosaminidase activator deficiency [ICD-11 More detail]
- Tay-Sachs disease, AB variant [MeSH Descriptor]
- Tay-Sachs disease, AB variant [MeSH concept]
- Tay-Sachs disease, variant AB (disorder) [SNOMED CT concept]
- tay-sachs disease, variant ab [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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