Gm1-gangliosidosis, type I

Preferred Label : Gm1-gangliosidosis, type I;

Symbol : GM1G1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gangliosidosis, generalized gm1, type I; Gangliosidosis, generalized gm1, infantile form; Gangliosidosis, generalized gm1, type 1; Beta-galactosidase-1 deficiency; Glb1 deficiency;

Included titles and symbols : Gm1-gangliosidosis, type I, with cardiac involvement; Gangliosidosis, generalized gm1, type I, with cardiac involvement;

Description : GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (230600), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (230650), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001). See also Morquio B disease (253010), an allelic disorder with skeletal anomalies and no neurologic involvement. The GM2-gangliosidoses include Tay-Sachs disease (272800) and Sandhoff disease (268800).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-1 galactosidase gene (GLB1, 611458.0001);

Prefixed ID : #230500;

Details

Origin ID

230500;

UMLS CUI

C0268271;

Automatic exact mappings (from CISMeF team)
- Decreased beta-galactosidase activity [HPO term]
- gangliosidosis, generalized GM1, type I, with cardiac involvement [MeSH concept]
- gangliosidosis, generalized GM1, type I, with cardiac involvement [MeSH Supplementary Concept]
Broader ORDO disease(s)
- GM1 gangliosidosis [ORDO Disease]
Currated CISMeF NLP mapping
- GM1 Gangliosidosis [NCIt concept]
- GM1 gangliosidosis [PASCAL descriptor]
- GM1 gangliosidosis [ORDO Disease]
- GM1 gangliosidosis [DO Concept]
- GM1 gangliosidosis (disorder) [SNOMED CT concept]
- GM1 gangliosidosis type 1 [ICD-11 More detail]
- GM1 gangliosidosis type 1 [DO Concept]
- GM1 gangliosidosis type 1 [ORDO Disease]
- Infantile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, GM1 [MeSH Descriptor]
- gangliosidosis, GM1 [MeSH concept]
- gangliosidosis, generalized GM1, type 1 [MeSH concept]
- infantile gm1 gangliosidosis [SNOMED Notion]
DO Cross reference
- GM1 gangliosidosis type 1 [DO Concept]
Genes related to phenotype
- Galactosidase, beta-1 [OMIM gene]
HPO term(s)
- Abnormal heart valve morphology [HPO term]
- Abnormality of the urinary system [HPO term]
- Angiokeratoma corporis diffusum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Cerebral degeneration [HPO term]
- Cherry red spot of the macula [HPO term]
- Coarse facial features [HPO term]
- Congestive heart failure [HPO term]
- Death in infancy [HPO term]
- Decreased beta-galactosidase activity [HPO term]
- Depressed nasal ridge [HPO term]
- Dilated cardiomyopathy [HPO term]
- Dwarfism [HPO term]
- Frontal bossing [HPO term]
- Full forehead [HPO term]
- Gingival overgrowth [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hydrops fetalis [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypertrichosis [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoplastic vertebral bodies [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint stiffness [HPO term]
- Kyphosis [HPO term]
- Mucopolysacchariduria [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Severe short stature [HPO term]
- Short neck [HPO term]
- Splenomegaly [HPO term]
- Thickened ribs [HPO term]
- Vacuolated lymphocytes [HPO term]
Not associated HPO term(s)
- Mucopolysacchariduria [HPO term]
ORDO concept(s)
- GM1 gangliosidosis [ORDO Disease]
- GM1 gangliosidosis type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM1 gangliosidosis type 1 [ICD-11 More detail]
- Infantile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, generalized GM1, type 1 [MeSH concept]
- infantile gm1 gangliosidosis [SNOMED Notion]
Validated automatic mappings to NTBT
- GM1 gangliosidosis [Disease (Nov.)]
- GM1 gangliosidosis [ICD-11 More detail]

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