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Start free with EleplanGM1 gangliosidosis
ORPHA:354Disease
Also called Beta-galactosidase-1 deficiency · GLB1 deficiency · Landing disease
What it is
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
Key facts
- Prevalence
- 1-9 / 1 000 000 (at birth, Europe)
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
17- Abnormal diaphysis morphology
- Abnormality of epiphysis morphology
- Abnormality of ganglioside metabolism
- Abnormal metaphysis morphology
- Aplasia/Hypoplasia of the abdominal wall musculature
- Arthralgia
- Brain imaging abnormality
- Coarse facial features
- Decreased beta-galactosidase activity
- Depressed nasal ridge
- Hyperreflexia
- Infectious encephalitis
- Morphological central nervous system abnormality
- Nystagmus
- Rough bone trabeculation
- Splenomegaly
- Weight loss
Common30–79%
33- Abnormal cerebral white matter morphology
- Abnormal form of the vertebral bodies
- Abnormal heart morphology
- Abnormality of extrapyramidal motor function
- Abnormality of movement
- Abnormality of speech or vocalization
- Abnormality of the skeletal system
- Abnormality of the skin
- Ataxia
- Camptodactyly of finger
- Cognitive impairment
- Developmental regression
- Failure to thrive
- Gait disturbance
- Generalized dystonia
- Generalized hirsutism
- Gingival overgrowth
- Global developmental delay
- Hepatosplenomegaly
- Hyperlordosis
- Hypotonia
- Inguinal hernia
- Joint stiffness
- Macroglossia
- Mandibular prognathia
- Seizure
- Short stature
- Skeletal dysplasia
- Spasticity
- Strabismus
- Thickened skin
- Tremor
- Unsteady gait
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes reported in subtypes
Orphanet records this gene on 3 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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