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Galactosialidosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

Sialidosis type 1

1 OMIM reference -
1 associated gene
40 signs/symptoms

Galactosialidosis

Sialidosis type 1

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTSA	(0.92)	NEU1

Citations in the biomedical literature:

Galactosialidosis		Sialidosis type 1
	Synonym(s): - Goldberg syndrome - Neuraminidase deficiency with beta-galactosidase deficiency		Synonym(s): - Cherry-red spot-myoclonus syndrome - Lipomucopolysaccharidosis - Normomorphic sialidosis - Syndrome "cherry-red spot-myoclonus"

	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 eye 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: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536411		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Coarse face - Corneal clouding / opacity / vascularisation - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Intellectual deficit / mental / psychomotor retardation / learning disability - Macular pigmentary anomaly / cherry-red spot - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism

Galactosialidosis		Sialidosis type 1
	Very frequent - Anomalies of spine, vertebrae and pelvis - Hearing loss / hypoacusia / deafness		Very frequent - Abnormal gait - Aminoacid metabolism anomalies / aminoaciduria - Ataxia / incoordination / trouble of the equilibrium - Broad nasal root - Delayed bone age - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Lipidosis / sulfatidosis - Mild visual loss / impaired visual acuity - Movement disorder - Nystagmus - Pectus carinatum - Retinopathy - Scoliosis - Sensorineural deafness / hearing loss - Short rib cage / thorax - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Splenomegaly - Storage liver disease - Thick lips - Vascular anomalies of skin / mucosae - Visual loss / blindness / amblyopia Frequent - Abnormal vertebral size / shape - Central neuropathy - EEG anomalies - Frontal bossing / prominent forehead - Herniae - Hypotonia - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Nerve conduction abnormality - Tremor Occasional - Cataract / lens opacification - Kyphosis