Includes: – Pseudohypoaldosteronism type IIB – OMIM#614491 https://omim.org/entry/614491 – WNK4 gene Also known as: PHA2B; autosomal dominant – Pseudohypoaldosteronism type IIC – OMIM#614492 https://omim.org/entry/614492 – WNK1 gene Also known...
Includes: – Pseudohypoaldosteronism type 1, autosomal dominant – OMIM#177735 https://omim.org/entry/177735 – NR3C2 gene Also known as: PHAIa; renal pseudohypoaldosteronism type; autosomal dominant PHAI – Pseudohypoaldosteronism type 1, autosomal recessive...
Includes: – Primary hyperoxaluria type 1 – OMIM#259900 https://omim.org/entry/259900 – AGXT gene Also known as: oxalosis I; glycolic aciduria; alanine-glyoxylate aminotransferase deficiency – Primary hyperoxaluria type 2 – OMIM#260000...
Hypophosphatemic rickets, X-linked – OMIM#307800 https://omim.org/entry/307800 – PHEX gene Also known as: vitamin D resistant rickets; hypophosphatemic vitamin D resistant rickets 1. The Disease: The phenotypic spectrum of X-linked...
AVPR2 and AQP2 genes Also known as: X-linked nephrogenic diabetes; diabetes insipidus nephrogenic type 1 and type 2 Includes: – Hereditary nephrogenic diabetes insipidus, X-linked – OMIM#304800 https://omim.org/entry/304800 –...
Also known as: Infantile nephropathic cystinosis (CTNS gene) OMIM#219800 https://omim.org/entry/219800 1. The Disease: Cystinosis is a lysosomal storage disorder resulting in the accumulation of cystine in kidneys, eyes, liver,...
NPHS1 gene Also known as: Nephrotic syndrome, type 1; Congenital nephrotic syndrome OMIM#256300 https://omim.org/entry/256300 1. The Disease: A rare congenital nephrotic syndrome characterized by massive protein loss and marked...
COL4A5, COL4A3 and COL4A4 genes Also known as: Familial Nephritis, Hereditary Nephritis, Thin Basement Membrane Disease, Thin Basement Membrane Nephropathy; Nephropathy and deafness, X-Linked Includes: Alport syndrome 1, X-Linked...