gangliosidosis, GM1

Preferred Label : gangliosidosis, GM1;

MeSH definition : An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7);

MeSH synonym : g(m1) gangliosidosis; gangliosidosis g(m1); beta galactosidase 1 deficiency disease; beta-galactosidase-1 deficiency disease; gm1 gangliosidosis; gangliosidosis GM1; Beta-Galactosidosis; beta galactosidosis;

CISMeF synonym : diseases, beta-galactosidase-1 deficiency; beta-Galactosidase deficiencies; beta-Galactosidase-1 deficiencies; beta-galactosidase-1 deficiency diseases; deficiencies, beta galactosidase; deficiencies, beta-Galactosidase; deficiencies, beta-Galactosidase-1; deficiency disease, beta-galactosidase-1; deficiency diseases, beta-galactosidase-1; disease, beta-galactosidase-1 deficiency; galactosidase deficiencies, beta; galactosidase deficiency, beta; GLB1 deficiencies;

MeSH hyponym : gangliosidosis, generalized GM1, type 3; gangliosidosis, generalized GM1, type 1; gangliosidosis, generalized GM1, type 2; Gangliosidosis GM1 Type 3; Gangliosidosis GM1, Adult; Type 3 (Adult) GM1 Gangliosidosis; Gangliosidosis, Generalized GM1, Adult Type; Gangliosidosis, Generalized GM1, Chronic Type; Gangliosidosis, Generalized GM1, Type III; GM1-Gangliosidosis, Type III; GM1 Gangliosidosis, Type III; GM1-Gangliosidoses, Type III; Type III GM1-Gangliosidoses; Type III GM1-Gangliosidosis; Adult GM1 Gangliosidosis; GM1 Gangliosidosis, Adult; Gangliosidosis, Adult GM1; Gangliosidosis GM1, Type 3; Gangliosidosis GM1, Type 2; GM1-Gangliosidosis, Type II; GM1 Gangliosidosis, Type II; GM1-Gangliosidoses, Type II; Type II GM1-Gangliosidoses; Type II GM1-Gangliosidosis; Gangliosidosis, Generalized GM1, Juvenile Type; Gangliosidosis, Generalized GM1, Type II; Gangliosidosis GM1, Juvenile; Juvenile Gangliosidosis GM1; Gangliosidosis, Generalized GM1 Type 2; Gangliosidosis GM1, Infantile; Infantile Gangliosidosis GM1; Gangliosidosis, Generalized GM1, Type I; Generalized Gangliosidosis; GM1-Gangliosidosis, Type I; GM1 Gangliosidosis, Type I; GM1-Gangliosidoses, Type I; Type I GM1-Gangliosidoses; Type I GM1-Gangliosidosis; Gangliosidosis, Generalized GM1, Infantile Form; Gangliosidosis Generalized GM1, Type 1; Gangliosidosis GM1, Type 1;

Related MeSH term : beta-Galactosidase deficiency; Deficiency, beta-Galactosidase; GLB1 Deficiency; Deficiencies, GLB1; Deficiency, GLB1; beta Galactosidase Deficiency; Deficiency, beta Galactosidase; beta Galactosidase 1 Deficiency; beta-Galactosidase-1 Deficiency; Deficiency, beta-Galactosidase-1; Beta-Galactosidase-1 (GLB1) Deficiency;

Wikipedia link : https://en.wikipedia.org/wiki/Generalized gangliosidosis;

Details

Origin ID

D016537;

UMLS CUI

C0085131;

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)
- Adult GM1 gangliosidosis (disorder) [SNOMED CT concept]
- Adult GM>1< gangliosidosis (disorder) [Inactive SNOMED CT concept]
- Decreased beta-galactosidase activity [HPO term]
- GM1 gangliosidosis [MedDRA LLT]
- GM1 gangliosidosis type 2 [DO Concept]
- GM1 gangliosidosis type 3 [DO Concept]
- GM1 gangliosidosis type 3 [ORDO Disease]
- Gm1-gangliosidosis, type II [OMIM Phenotype]
- Gm1-gangliosidosis, type III [OMIM Phenotype]
- Juvenile GM1 gangliosidosis [PASCAL descriptor]
- Juvenile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type 4 [ORDO Disease]
- Mucopolysaccharidosis type IVB (disorder) [SNOMED CT concept]
- adult gm1 gangliosidosis [SNOMED Notion]
- juvenile gm1 gangliosidosis [SNOMED Notion]
- mucopolysaccharidosis, mps-iv-b [SNOMED Notion]
Currated CISMeF NLP mapping
- Deficiency of beta-galactosidase (disorder) [SNOMED CT concept]
- GM1 Gangliosidosis [NCIt concept]
- GM1 gangliosidosis [PASCAL descriptor]
- GM1 gangliosidosis [DO Concept]
- GM1 gangliosidosis [Disease (Nov.)]
- GM1 gangliosidosis [ICD-11 More detail]
- GM1 gangliosidosis [ACR pathology]
- GM1 gangliosidosis [ORDO Disease]
- GM1 gangliosidosis (disorder) [SNOMED CT concept]
- GM1 gangliosidosis type 1 [DO Concept]
- GM1 gangliosidosis type 1 [ORDO Disease]
- GM>1< gangliosidosis (disorder) [Inactive SNOMED CT concept]
- Gm1-gangliosidosis, type I [OMIM Phenotype]
- Infantile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- Other and unspecified gangliosidosis [ICD-10 Sub-category]
- Other gangliosidosis [ICD-10 Sub-category (who)]
- gm1 gangliosidosis, nos [SNOMED Notion]
- infantile gm1 gangliosidosis [SNOMED Notion]
DO Cross reference
- GM1 gangliosidosis [DO Concept]
False automatic mappings
- GM1 gangliosidosis type 2 [ORDO Disease]
HPO term
- Decreased beta-galactosidase activity [HPO term]
Manual NTBT mappings (CISMeF)
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
- Metabolic disease with macular cherry-red spot [ORDO Disease]
- Nervous system anomaly with eye involvement [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- GM1 gangliosidosis [ORDO Disease]
Record concept(s)
- beta-Galactosidase deficiency [MeSH concept]
- gangliosidosis, GM1 [MeSH concept]
- gangliosidosis, generalized GM1, type 1 [MeSH concept]
- gangliosidosis, generalized GM1, type 2 [MeSH concept]
- gangliosidosis, generalized GM1, type 3 [MeSH concept]
Related MeSH Supplementary Concept(s)
- gangliosidosis, generalized GM1, Late-Infantile type [MeSH Supplementary Concept]
- gangliosidosis, generalized GM1, type I, with cardiac involvement [MeSH Supplementary Concept]
See also
- beta-Galactosidase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM1 Gangliosidosis [NCIt concept]
- GM1 gangliosidosis [ACR pathology]
- GM1 gangliosidosis [DO Concept]
- GM1 gangliosidosis [ICD-11 More detail]
- GM1 gangliosidosis [MedDRA LLT]
- GM1 gangliosidosis (disorder) [SNOMED CT concept]
- GM>1< gangliosidosis (disorder) [Inactive SNOMED CT concept]
- gm1 gangliosidosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- GM1 gangliosidosis type 1 [ICD-11 More detail]
- GM1 gangliosidosis type 2 [ICD-11 More detail]
- GM1 gangliosidosis type 3 [ICD-11 More detail]

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