TN POLYAGGLUTINATION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: GALACTOSYLTRANSFERASE DEFICIENCY
TNPS
Number of Symptoms 2
OrphanetNr:
OMIM Id: 300622
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001877) Abnormality of erythrocytes 18 / 7739
2
(HPO:0002960) Autoimmunity 78 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary ...
Clinical Description OMIM Dausset et al. (1959) reported a 65-year-old man who developed persistent hemolytic anemia after blood transfusion for anemia after an acute infection. The anemia was accompanied by thrombocytopenia and leukopenia. Laboratory studies indicated that his red cells had ...
Molecular genetics OMIM Ju and Cummings (2005) showed that Tn syndrome is associated with somatic mutations in COSMC (C1GALT1C1; 300611), a gene on the X chromosome that encodes a molecular chaperone that is required for the proper folding and hence full ...