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GM3 synthase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0018274

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. [ https://ghr.nlm.nih.gov/condition/gm3-synthase-deficiency ]

Term info

database cross reference
  • UMLS:CN204860 (MONDO:equivalentTo)
  • Orphanet:171714 (OMIM:609056)
  • UMLS:C1836824 (Orphanet:171714)
  • GARD:0012059 (MONDO:equivalentTo)
  • SCTID:722762005 (MONDO:equivalentTo)
  • Orphanet:370938 (MONDO:equivalentObsolete)
  • Orphanet:370933 (MONDO:equivalentTo)
  • OMIM:609056 (Orphanet:370938/ntbt)
  • DOID:0060470 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
SPDRS [ OMIM:609056 ]

A synonym that is historic and discouraged
salt and pepper mental retardation syndrome [ OMIM:609056 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5682

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.

exactMatch

http://identifiers.org/snomedct/722762005, https://omim.org/entry/609056, http://linkedlifedata.com/resource/umls/id/C1836824, http://purl.obolibrary.org/obo/Orphanet_370933, http://purl.obolibrary.org/obo/DOID_0060470, http://linkedlifedata.com/resource/umls/id/CN204860

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005093, http://purl.obolibrary.org/obo/MONDO_0019288

has exact synonym

epilepsy syndrome, infantile-onset symptomatic, salt-and-pepper syndrome, ST3GAL5-CDG, disorder of lactosylceramide alpha-2,3-sialyltransferase activity, infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness, salt & pepper syndrome, lactosylceramide alpha-2,3-sialyltransferase activity disease, salt and pepper developmental regression syndrome, GM3 synthase deficiency, infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome, SPDRS, Amish infantile epilepsy syndrome

has related synonym

salt and pepper mental retardation syndrome

id

MONDO:0018274