Gm1-gangliosidosis, type II

Preferred Label : Gm1-gangliosidosis, type II;

Symbol : GM1G2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gangliosidosis, generalized gm1, juvenile type; Gangliosidosis, generalized gm1, type II; Gangliosidosis, generalized gm1, type 2;

Included titles and symbols : Gangliosidosis, generalized gm1, late-infantile type;

Description : GM1-gangliosidosis type II is an autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. Unlike the severe infantile type I, type II is usually not associated with macular cherry-red spots or organomegaly. Within type II, those with somewhat earlier onset and earlier death are considered to have the 'late-infantile' form, whereas those with slightly later onset and survival into late childhood are referred to as having the 'juvenile' form (Caciotti et al., 2003). However, there is no strict age marker to distinguish between these 2 type II forms. GLB1 enzyme activity in type II ranges from approximately 1 to 4% of control values (Nishimoto et al., 1991; Yoshida et al., 1991).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-1-galactosidase gene (GLB, 230500.0003);

Laboratory abnormalities : Decreased beta-galactosidase activity (leukocyte, fibroblast, plasma);

Prefixed ID : #230600;

Details

Origin ID

230600;

UMLS CUI

C0268272;

Automatic exact mappings (from CISMeF team)
- gangliosidosis, GM1 [MeSH Descriptor]
- gangliosidosis, generalized GM1, Late-Infantile type [MeSH Supplementary Concept]
- gangliosidosis, generalized GM1, Late-Infantile type [MeSH concept]
Broader ORDO disease(s)
- GM1 gangliosidosis [ORDO Disease]
Currated CISMeF NLP mapping
- GM1 gangliosidosis type 2 [ICD-11 More detail]
- GM1 gangliosidosis type 2 [ORDO Disease]
- Juvenile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, generalized GM1, type 2 [MeSH concept]
DO Cross reference
- GM1 gangliosidosis type 2 [DO Concept]
Genes related to phenotype
- Galactosidase, beta-1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Coxa valga [HPO term]
- Decreased beta-galactosidase activity [HPO term]
- Developmental stagnation [HPO term]
- Gait disturbance [HPO term]
- Generalized myoclonic seizure [HPO term]
- Mild platyspondyly [HPO term]
- Optic atrophy [HPO term]
- Platyspondyly [HPO term]
- Progressive psychomotor deterioration [HPO term]
- Sea-blue histiocytosis [HPO term]
- Spastic tetraplegia [HPO term]
- Ventriculomegaly [HPO term]
Not associated HPO term(s)
- Abnormality of the face [HPO term]
- Hepatomegaly [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- GM1 gangliosidosis [ORDO Disease]
- GM1 gangliosidosis type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM1 gangliosidosis type 2 [ORDO Disease]
- GM1 gangliosidosis type 2 [DO Concept]
- GM1 gangliosidosis type 2 [ICD-11 More detail]
- Juvenile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, generalized GM1, type 2 [MeSH concept]
- juvenile gm1 gangliosidosis [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients