PedAM
Pediatric Disease Annotations & Medicines
| Disease | proteinuria |
| Phenotype | C0024523|malabsorption |
| Sentences | 6 |
| PubMedID- 21197105 | Cubilin gene defects are the cause of hereditary megaloblastic anaemia 1 or imerslund-gräsbeck syndrome, known as selective vitamin b12 malabsorption with proteinuria [13]. |
| PubMedID- 22929189 | Recessive mutations in either of these two genes cause the disease known as imerslund-gräsbeck syndrome (igs, megaloblastic anemia 1; omim261100) or selective vitamin b12 malabsorption with proteinuria [16-19]. |
| PubMedID- 20011067 | It was originally identified as the receptor for intrinsic factor-vitamin b12 [13, 14], and its gene defects are the causes of hereditary megaloblastic anaemia 1 or imerslund-gräsbeck syndrome (selective vitamin b12 malabsorption with proteinuria) [15]. |
| PubMedID- 24433284 | Background: selective intestinal cobalamin malabsorption with mild proteinuria (imerslund-grasbeck syndrome; i-gs), is an autosomal recessive disorder of dogs caused by mutations in amn or cubn that disrupt cubam function and which can present as a medical emergency. |
| PubMedID- 22219566 | Imerslund grasbeck syndrome (igs) is a rare autosomal recessive childhood disorder characterized by selective vitamin (vit) b 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. |
| PubMedID- 23773363 | Mutations of the cubilin gene are the cause of imerslund-gräsbeck syndrome, also known as selective vitamin b12 malabsorption with proteinuria [10]. |
Page: 1