Hypophosphataemic rickets, also known as vitamin D resistant rickets, is a group of genetic disorders characterized by defective reabsorption of inorganic phosphorus by the renal tubules resulting in hypophosphatemia and rickets associated with mineralization defect. Fibroblast growth factor-23 (FGF23) regulates phosphate reabsorption in the kidney and therefore plays an essential role in phosphate balance in humans. There is a host of defects that ultimately lead to excess FGF23 levels and thereby cause renal phosphate wasting and hypophosphatemic rickets.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C63 Disorders of vitamin or non-protein cofactor absorption or transport
H00214 Hypophosphatemic rickets
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H00214 Hypophosphatemic rickets
Nephrolithiasis/osteoporosis, hypophosphatemic (NPHLOP) is a genetically heterologous group of disorders characterized by the formation of renal calcium stones or bone demineralization due to impaired renal phosphate reabsorption. It is caused by either mutations in SLC34A1, a sodium-phosphate cotransporter expressed in kidney and polarized osteoclasts, or in sodium-hydrogen exchanger regulatory factor (NHERF)1, that controls renal phosphate transport by trafficking SLC34A1.
Category
Urinary system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
Diseases of the urinary system
GB90 Certain specified disorders of kidney or ureter
H00888 Nephrolithiasis/osteoporosis, hypophosphatemic
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H00888 Nephrolithiasis/osteoporosis, hypophosphatemic
Pathway
hsa04928 Parathyroid hormone synthesis, secretion and action
Fanconi renotubular syndrome (FRTS) is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to decreased solute and water reabsorption. Patients had a generalized proximal tubulopathy, renal phosphate wasting, bone mineral deficiency, and decreased glomerular filtration rates. It is reported that mutations in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, may cause this disease.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
Diseases of the urinary system
GB90 Certain specified disorders of kidney or ureter
H01198 Fanconi renotubular syndrome
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H01198 Fanconi renotubular syndrome
Hartmannova H, Piherova L, Tauchmannova K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodanova K, Stranecky V, Pristoupilova A, Baresova V, Jedlickova I, Zivna M, Sovova J, Hulkova H, Robins V, Vrbacky M, Pecina P, Kaplanova V, Houstek J, Mracek T, Thibeault Y, Bleyer AJ, Kmoch S
Title
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Pulmonary alveolar microlithiasis (PALM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years, and cases with early onset or rapid progression are rare. One-third of the reported cases are familial. It has been suggested that mutations in SLC34A2 cause this disease.
Category
Respiratory system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
12 Diseases of the respiratory system
Respiratory diseases principally affecting the lung interstitium
CB06 Pulmonary alveolar microlithiasis
H01298 Pulmonary alveolar microlithiasis
Idiopathic infantile hypercalcemia is autosomal recessive disorder that is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It has been reported that mutations in the vitamin D-metabolizing enzyme CYP24A1 cause this disease. The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C64 Disorders of mineral absorption or transport
H01371 Hypercalcemia infantile
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H01371 Hypercalcemia infantile
Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Broking E, Fehrenbach H, Wingen AM, Guran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M
Title
Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M
Title
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder that is characterized by reduced renal phosphate reabsorption, hypophosphatemia, and rickets. Patients present with hypercalciuria due to increased serum 1, 25-dihydroxyvitamin D levels and increased intestinal calcium absorption. HHRH is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C64 Disorders of mineral absorption or transport
H02138 Hereditary hypophophatemic rickets with hypercalciuria
Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H
Title
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
