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Galactosialidosis
1 OMIM reference -
1 associated gene
16 connected diseases
10 signs/symptoms
Disease Type of connection
Congenital sialidosis type 2
Juvenile sialidosis type 2
Sialidosis type 1
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type I
Familial isolated dilated cardiomyopathy
Lethal polymalformative syndrome, Boissel type
Muscular dystrophy, Selcen type
Prolidase deficiency
CLN10 disease
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Glycogen storage disease due to LAMP-2 deficiency
Mucopolysaccharidosis type 4B
Gyrate atrophy of choroid and retina
Synonym(s):
- Goldberg syndrome
- Neuraminidase deficiency with beta-galactosidase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
1 MeSH reference: C536411
Gene symbol UniProt reference OMIM reference
CTSA P10619613111
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
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macular pigmentary anomaly / cherry-red spot
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism