Disease: Familial hyperchylomicronemia syndrome ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931862
Disease: Familial hyperchylomicronemia syndrome
Familial hyperchylomicronemia syndrome 		0.040 GeneticVariation disease BEFREE Two unrelated young Asian Indian males (11 and 9 years old) with T1HLP due to homozygous large GPIHBP1 deletions were enrolled at the UT Southwestern Medical Center. 29659879 2018
CUI: C2931862
Disease: Familial hyperchylomicronemia syndrome
Familial hyperchylomicronemia syndrome 		0.040 GeneticVariation disease BEFREE Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1. 27578137 2017
CUI: C2931862
Disease: Familial hyperchylomicronemia syndrome
Familial hyperchylomicronemia syndrome 		0.040 Biomarker disease BEFREE Despite considerable progress in identifying several causal genes for T1HLP, such as LPL, APOC2, APOA5, LMF1, and GPIHBP1, the molecular basis of some extremely rare patients presenting with T1HLP remains obscure. 27403930 2016
CUI: C2931862
Disease: Familial hyperchylomicronemia syndrome
Familial hyperchylomicronemia syndrome 		0.040 Biomarker disease BEFREE Homozygosity for a deletion of exons 3 and 4 of GPIHBP1 results in Type 1 hyperlipoproteinemia. 24589565 2014