Aliases & Classifications for Gm3 Synthase Deficiency

MalaCards integrated aliases for Gm3 Synthase Deficiency:

Name: Gm3 Synthase Deficiency 50 24 25
Amish Infantile Epilepsy Syndrome 50 24 25 69
Epilepsy Syndrome, Infantile-Onset Symptomatic 50 25
Infantile-Onset Symptomatic Epilepsy Syndrome - Developmental Stagnation - Blindness 50
Infantile-Onset Symptomatic Epilepsy Syndrome 25
Ganglioside Gm3 Synthase Deficiency 25
St3gal5-Cdg 50

Classifications:



Summaries for Gm3 Synthase Deficiency

NIH Rare Diseases : 50 gm3 synthase deficiency is a rare neurological disorder in which the brain does not develop normally. symptoms of the disease begin within the first weeks or months of life and include difficulty feeding, irritability, vomiting, and seizures accompanied by loss of consciousness (grand mal seizures). vision and hearing loss, spots of darker skin color (hyperpigmentation), and intellectual and developmental delays develop as the disease progresses. gm3 synthase deficiency is a congenital disorder of glycosylation and includes both cases described as amish infantile epilepsysyndrome and cases described as salt & pepper syndrome. gm3 synthase deficiency is caused by a mutation in the st3gal5 gene and is inherited in an autosomal recessive manner. the st3gal5 gene tells the body to make an enzyme that supports gangliosides, which are molecules that are important for brain development and function. gm3 synthase deficiency is suspected when a child presents with symptoms characteristic of the disease. genetic testing confirms the diagnosis. treatment is focused on relieving symptoms of the disease, which may include nutritional and feeding support and medications to lessen the severity of seizures. although there is no cure for the condition, children with gm3 synthase deficiency have lived into early adulthood. last updated: 8/3/2016

MalaCards based summary : Gm3 Synthase Deficiency, also known as amish infantile epilepsy syndrome, is related to salt and pepper developmental regression syndrome and rett syndrome, and has symptoms including vomiting and unspecified visual loss. An important gene associated with Gm3 Synthase Deficiency is ST3GAL5 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5). Affiliated tissues include brain, testes and skin.

Genetics Home Reference : 25 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.

Related Diseases for Gm3 Synthase Deficiency

Diseases related to Gm3 Synthase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 salt and pepper developmental regression syndrome 11.1
2 rett syndrome 9.8
3 epilepsy 9.8

Symptoms & Phenotypes for Gm3 Synthase Deficiency

UMLS symptoms related to Gm3 Synthase Deficiency:


vomiting, unspecified visual loss

Drugs & Therapeutics for Gm3 Synthase Deficiency

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Oral Supplementation of Gangliosides to Treat a Rare Metabolic Disorder Enrolling by invitation NCT02234024

Search NIH Clinical Center for Gm3 Synthase Deficiency

Genetic Tests for Gm3 Synthase Deficiency

Anatomical Context for Gm3 Synthase Deficiency

MalaCards organs/tissues related to Gm3 Synthase Deficiency:

39
Brain, Testes, Skin

Publications for Gm3 Synthase Deficiency

Articles related to Gm3 Synthase Deficiency:

id Title Authors Year
1
Early growth and development impairments in patients with ganglioside GM3 synthase deficiency. ( 26649472 )
2016
2
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. ( 27232954 )
2016
3
Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency. ( 23436467 )
2013
4
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. ( 22990144 )
2013
5
Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts. ( 18480157 )
2008
6
Etiology of vision loss in ganglioside GM3 synthase deficiency. ( 17050284 )
2006

Variations for Gm3 Synthase Deficiency

ClinVar genetic disease variations for Gm3 Synthase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ST3GAL5 NM_003896.3(ST3GAL5): c.862C> T (p.Arg288Ter) single nucleotide variant Pathogenic rs104893668 GRCh37 Chromosome 2, 86071665: 86071665
2 ST3GAL5 NM_003896.3(ST3GAL5): c.1063G> A (p.Glu355Lys) single nucleotide variant Pathogenic rs534438354 GRCh37 Chromosome 2, 86067461: 86067461
3 ST3GAL5 NM_003896.3(ST3GAL5): c.584G> C (p.Cys195Ser) single nucleotide variant Pathogenic rs886037930 GRCh38 Chromosome 2, 85847939: 85847939
4 ST3GAL5 NM_003896.3(ST3GAL5): c.601G> A (p.Gly201Arg) single nucleotide variant Pathogenic rs771732955 GRCh38 Chromosome 2, 85847922: 85847922

Expression for Gm3 Synthase Deficiency

Search GEO for disease gene expression data for Gm3 Synthase Deficiency.

Pathways for Gm3 Synthase Deficiency

GO Terms for Gm3 Synthase Deficiency

Sources for Gm3 Synthase Deficiency

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70 UMLS via Orphanet
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