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Galactosialidosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Acute neonatal citrullinemia type I

1 associated gene
No signs/symptoms info

Galactosialidosis

Acute neonatal citrullinemia type I

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTSA	(0.63)	ASS1

Citations in the biomedical literature:

Galactosialidosis		Acute neonatal citrullinemia type I
	Synonym(s): - Goldberg syndrome - Neuraminidase deficiency with beta-galactosidase deficiency		Synonym(s): - Acute neonatal citrullinemia type 1 - Classic citrullinemia type 1 - Classic citrullinemia type I

	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 genetic 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: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

Galactosialidosis
	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
Acute neonatal citrullinemia type I
(no data available)