ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
6 signs/symptoms

Galactosialidosis

Glycogen storage disease due to LAMP-2 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTSA	(0.52)	LAMP2

Citations in the biomedical literature:

Galactosialidosis		Glycogen storage disease due to LAMP-2 deficiency
	Synonym(s): - Goldberg syndrome - Neuraminidase deficiency with beta-galactosidase deficiency		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 bone disease - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		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 - 1 MeSH reference: C536411		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Galactosialidosis		Glycogen storage disease due to LAMP-2 deficiency
	Very frequent - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Coarse face - Corneal clouding / opacity / vascularisation - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hearing loss / hypoacusia / deafness - Macular pigmentary anomaly / cherry-red spot - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism		Very frequent - Abnormal gait - Cardiomyopathy / hypertrophic / dilated - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Muscle weakness / flaccidity - X-linked recessive inheritance