Gm1-gangliosidosis, type III

Preferred Label : Gm1-gangliosidosis, type III;

Symbol : GM1G3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gangliosidosis, generalized gm1, type III; Gangliosidosis, generalized gm1, adult type; Gangliosidosis, generalized gm1, type 3; Gangliosidosis, generalized gm1, chronic type;

Description : GM1-gangliosidosis type III is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II (230600). Type III shows extreme clinical variability, with some patients having only focal neurologic signs, such as dystonia, and others having more severe involvement with extrapyramidal signs and mental retardation. GLB1 enzymatic activity usually ranges from approximately 4 to 10% of control values (Suzuki et al., 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-1-galactosidase gene (GLB1, 230500.0004);

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

Prefixed ID : #230650;

Details

Origin ID

230650;

UMLS CUI

C0268273;

Automatic exact mappings (from CISMeF team)
- gangliosidosis, GM1 [MeSH Descriptor]
Broader ORDO disease(s)
- GM1 gangliosidosis [ORDO Disease]
Currated CISMeF NLP mapping
- Adult GM1 gangliosidosis (disorder) [SNOMED CT concept]
- GM1 gangliosidosis type 3 [ICD-11 More detail]
- GM1 gangliosidosis type 3 [DO Concept]
- GM1 gangliosidosis type 3 [ORDO Disease]
- adult gm1 gangliosidosis [SNOMED Notion]
- gangliosidosis, generalized GM1, type 3 [MeSH concept]
DO Cross reference
- GM1 gangliosidosis type 3 [DO Concept]
Genes related to phenotype
- Galactosidase, beta-1 [OMIM gene]
HPO term(s)
- Anterior beaking of lumbar vertebrae [HPO term]
- Autosomal recessive inheritance [HPO term]
- Corneal opacity [HPO term]
- Decreased beta-galactosidase activity [HPO term]
- Diffuse cerebral atrophy [HPO term]
- Dystonia [HPO term]
- Flared iliac wing [HPO term]
- Foam cells [HPO term]
- Hypoplastic acetabulae [HPO term]
- Intellectual disability, mild [HPO term]
- Kyphosis [HPO term]
- Mild platyspondyly [HPO term]
- Opacification of the corneal stroma [HPO term]
- Platyspondyly [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slurred speech [HPO term]
Not associated HPO term(s)
- Abnormality of the face [HPO term]
- Cherry red spot of the macula [HPO term]
- Hepatomegaly [HPO term]
- Myoclonus [HPO term]
- Seizure [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- GM1 gangliosidosis [ORDO Disease]
- GM1 gangliosidosis type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult GM1 gangliosidosis (disorder) [SNOMED CT concept]
- Adult GM>1< gangliosidosis (disorder) [Inactive SNOMED CT concept]
- GM1 gangliosidosis type 3 [ORDO Disease]
- GM1 gangliosidosis type 3 [DO Concept]
- GM1 gangliosidosis type 3 [ICD-11 More detail]
- adult gm1 gangliosidosis [SNOMED Notion]
- gangliosidosis, generalized GM1, type 3 [MeSH concept]

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