A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure. (DO)
developmental and epileptic encephalopathy 1
developmental and epileptic encephalopathy 8
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Donnai-Barrow syndrome
Duchenne muscular dystrophy +
ectodermal dysplasia 1 +
factor VIII deficiency +
Familial Azotemia
Familial Hypophosphatemia +
Familial Renal Hypouricemia due to Tubular Hypersecretion
Fanconi anemia complementation group B
Fanconi syndrome +
FG syndrome +
frontometaphyseal dysplasia 1
Galloway-Mowat syndrome 2
Gitelman syndrome
glycogen storage disease IXA
glycogen storage disease IXD
glycogen storage disease VIII
hemophilia B
hereditary sensory neuropathy X-linked
hereditary spastic paraplegia 16
hereditary spastic paraplegia 2
hereditary spastic paraplegia 34
Holoprosencephaly 13, X-linked
HRPT-related hyperuricemia
hypogonadotropic hypogonadism 1 with or without anosmia
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +
hypophosphatemic nephrolithiasis/osteoporosis 2
Hypouricemia, Hypercalcinuria, and Decreased Bone Density