Tn Polyagglutination Syndrome (TNPS)

Alias:
Galactosyltransferase Deficiency
Tn Syndrome
Tnps
Tn Polyagglutination Syndrome, Somatic
Polyagglutinable Erythrocyte Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tn Polyagglutination Syndrome, also known as galactosyltransferase deficiency, is related to ehlers-danlos syndrome, spondylodysplastic type, 1 and congenital disorder of glycosylation, type iid. An important gene associated with Tn Polyagglutination Syndrome is C1GALT1C1 (C1GALT1 Specific Chaperone 1), and among its related pathways/superpathways are Diseases of glycosylation and O-linked glycosylation of mucins. Affiliated tissues include t cells and colon, and related phenotypes are autoimmunity and abnormal erythrocyte morphology
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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11
45
6

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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