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Glycogen storage disease due to LAMP-2 deficiency
1 OMIM reference -
1 associated gene
21 connected diseases
6 signs/symptoms
Disease Type of connection
Young adult-onset Parkinsonism
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Autosomal recessive distal renal tubular acidosis with deafness
Dedifferentiated liposarcoma
Distal myopathy with posterior leg and anterior hand involvement
Leber congenital amaurosis
Muscle filaminopathy
Parkinsonian-pyramidal syndrome
Retinitis pigmentosa
Well-differentiated liposarcoma
Albers-Schönberg osteopetrosis
Amyotrophic lateral sclerosis
Autosomal recessive malignant osteopetrosis
Galactosialidosis
Intermediate osteopetrosis
Severe intellectual deficit and progressive spastic paraplegia
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Synonym(s):
- Danon disease
- GSD due to LAMP-2 deficiency
- Glycogenosis due to LAMP-2 deficiency
- Lysosomal glycogen storage disease with normal acid maltase activity
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LAMP2 P13473309060
Very frequent
- Abnormal gait
- Cardiomyopathy / hypertrophic / dilated
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Muscle weakness / flaccidity
- X-linked recessive inheritance