rs80338851, B3GLCT

N. diseases: 3
Disease: Krause-Kivlin syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Krause-Kivlin syndrome
CUI: C0796012
Disease: Krause-Kivlin syndrome
0.710 GeneticVariation BEFREE This strategy, applied to trio sequencing data in compliance with ACMG 2015 guidelines, helped us find two compound heterozygous variants of the <i>B3GLCT</i> gene, of which c.660+1G>A (rs80338851) was previously associated with the phenotype of Peters plus syndrome (PPS), while the second, NM_194318.3:c.755delC (p.T252fs), in exon 9 of the same gene was noted for the first time. 31795264 2019
Krause-Kivlin syndrome
CUI: C0796012
Disease: Krause-Kivlin syndrome
0.710 CausalMutation CLINVAR Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis. 26684045 2016
Krause-Kivlin syndrome
CUI: C0796012
Disease: Krause-Kivlin syndrome
0.710 CausalMutation CLINVAR Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. 23889335 2014
Krause-Kivlin syndrome
CUI: C0796012
Disease: Krause-Kivlin syndrome
0.710 CausalMutation CLINVAR Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. 23161355 2013
Krause-Kivlin syndrome
CUI: C0796012
Disease: Krause-Kivlin syndrome
0.710 CausalMutation CLINVAR Absence of NR2E1 mutations in patients with aniridia. 23213277 2012
Krause-Kivlin syndrome
CUI: C0796012
Disease: Krause-Kivlin syndrome
0.710 CausalMutation CLINVAR Novel B3GALTL mutation in Peters-plus Syndrome. 19796186 2009
Krause-Kivlin syndrome
CUI: C0796012
Disease: Krause-Kivlin syndrome
0.710 CausalMutation CLINVAR Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. 18199743 2008
Krause-Kivlin syndrome
CUI: C0796012
Disease: Krause-Kivlin syndrome
0.710 CausalMutation CLINVAR Mutation analysis of B3GALTL in Peters Plus syndrome. 18798333 2008
Krause-Kivlin syndrome
CUI: C0796012
Disease: Krause-Kivlin syndrome
0.710 CausalMutation CLINVAR Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. 16909395 2006