GM2 g. AB variant

a GM2 gangliosidosis caused by mutation in the GM2Agene (locus: 5q31.3-q33.1), which encodes GM2 activator protein, a sphingolipid activator protein necessary for hexosaminidase A activity; this variant is clinically identical to infantile Tay-Sachs disease.

Medical dictionary. 2011.

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  • GM2-gangliosidosis, AB variant — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 32644 ICD10 = ICD9 = ICDO = OMIM = 272750 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 3016 MeshID = D049290 GM2 gangliosidosis, AB variant is a rare, autosomal recessive metabolic… …   Wikipedia

  • GM2-gangliosidosis, B variant — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary

  • GM2 g. 0 variant — Sandhoff disease …   Medical dictionary

  • GM2 g. B variant — Tay Sachs disease …   Medical dictionary

  • GM2 activator deficiency — GM2 gangliosidosis, AB variant …   Medical dictionary

  • GM2 activator protein — a sphingolipid activator protein that binds GM2 ganglioside and related glycosphingolipids and presents them to hexosaminidase A for cleavage; it is necessary for enzyme activity. Deficiency results in GM2 gangliosidosis, AB variant …   Medical dictionary

  • GM2 gangliosidoses — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 12916 DiseasesDB mult = DiseasesDB2|29469, DiseasesDB2|32644 ICD10 = ICD10|E|75|0|e|70 ICD9 = ICD9|330.1 ICDO = OMIM = 272800 OMIM mult = OMIM2|268800, OMIM2|272750 MedlinePlus =… …   Wikipedia

  • GM2-gangliosidosis, type 1 — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary

  • Type 1 GM2-gangliosidosis — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary

  • B variant GM2-gangliosidosis — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary

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