Details of Disease | DrugMAP

General Information of Disease (ID: DISAWA41)

Disease Name	GM3 synthase deficiency
Synonyms	salt and pepper mental retardation syndrome; SPDRS; ST3GAL5-CDG; GM3 synthase deficiency; infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness; salt-and-pepper syndrome; epilepsy syndrome, infantile-onset symptomatic; salt & pepper syndrome; infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome; disorder of lactosylceramide alpha-2,3-sialyltransferase activity; lactosylceramide alpha-2,3-sialyltransferase activity disease; Amish infantile epilepsy syndrome; salt and pepper developmental regression syndrome
Definition	GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISWD40R: Disease DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis DISOXMGQ: Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation DISAWA41: GM3 synthase deficiency
Disease Identifiers	MONDO ID MONDO_0018274 MESH ID C563799 UMLS CUI C1836824 OMIM ID 609056 MedGen ID 323005 Orphanet ID 370933 SNOMED CT ID 722762005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ST3GAL5	TTVF2BJ	Limited	Genetic Variation	[1]
ST3GAL5	TTVF2BJ	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ST3GAL5	OT27CCUF	Definitive	Autosomal recessive	[2]
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References

1	ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis. J Child Neurol. 2018 Nov;33(13):825-831. doi: 10.1177/0883073818791099. Epub 2018 Sep 5.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.