Hypophosphatemia, Familial [familiární hypofosfatemie]

topical
12
Terms

fosfátový diabetes
fosfaturie
hyperfosfaturie
hypofosfatémie familiární

 

Diabetes, Phosphate
Familial Hypophosphatemia
Hyperphosphaturia
Phosphate Diabetes
Phosphaturia

Persistent link   https://www.medvik.cz/link/D007015
Definition

An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.

Annotation
a clinical entity: not for decreased blood phosphate levels ( = PHOSPHATES /blood)
DUI
D007015 MeSH Browser
CUI
M0010916
History note
1965
Public note
1965

C Diseases
C12.050.351.968 Urologic Diseases 834
C12.050.351.968.419 Kidney Diseases 3 060
C12.050.351.968.419.815 Renal Tubular Transport, Inborn Errors 36
C12.050.351.968.419.815.093 Acidosis, Renal Tubular 59
C12.050.351.968.419.815.279 Bartter Syndrome 19
C12.050.351.968.419.815.364 Dent Disease 1
C12.050.351.968.419.815.450 Fanconi Syndrome 23
C12.050.351.968.419.815.491 Gitelman Syndrome 17
C12.050.351.968.419.815.532 Glycosuria, Renal 36
C12.050.351.968.419.815.647 Hypophosphatemia, Familial 12
C12.050.351.968.419.815.647.500 Familial Hypophosphatemic Rickets 27
C12.050.351.968.419.815.683 Liddle Syndrome 4
C12.050.351.968.419.815.720 Oculocerebrorenal Syndrome 9
C12.050.351.968.419.815.770 Pseudohypoaldosteronism 9
C12.050.351.968.419.815.885 Renal Aminoacidurias 27
C12.200.777 Urologic Diseases 834
C12.200.777.419 Kidney Diseases 3 060
C12.200.777.419.815.093 Acidosis, Renal Tubular 59
C12.200.777.419.815.279 Bartter Syndrome 19
C12.200.777.419.815.364 Dent Disease 1
C12.200.777.419.815.450 Fanconi Syndrome 23
C12.200.777.419.815.491 Gitelman Syndrome 17
C12.200.777.419.815.532 Glycosuria, Renal 36
C12.200.777.419.815.647 Hypophosphatemia, Familial 12
C12.200.777.419.815.647.500 Familial Hypophosphatemic Rickets 27
C12.200.777.419.815.683 Liddle Syndrome 4
C12.200.777.419.815.720 Oculocerebrorenal Syndrome 9
C12.200.777.419.815.770 Pseudohypoaldosteronism 9
C12.200.777.419.815.885 Renal Aminoacidurias 27
C12.950.419 Kidney Diseases 3 060
C12.950.419.815.093 Acidosis, Renal Tubular 59
C12.950.419.815.279 Bartter Syndrome 19
C12.950.419.815.364 Dent Disease 1
C12.950.419.815.450 Fanconi Syndrome 23
C12.950.419.815.491 Gitelman Syndrome 17
C12.950.419.815.532 Glycosuria, Renal 36
C12.950.419.815.647 Hypophosphatemia, Familial 12
C12.950.419.815.647.500 Familial Hypophosphatemic Rickets 27
C12.950.419.815.683 Liddle Syndrome 4
C12.950.419.815.720 Oculocerebrorenal Syndrome 9
C12.950.419.815.770 Pseudohypoaldosteronism 9
C12.950.419.815.885 Renal Aminoacidurias 27
C16.320.565.618.337 Hemochromatosis 198
C16.320.565.618.403 Hepatolenticular Degeneration 243
C16.320.565.618.482 Hypophosphatasia 16
C16.320.565.618.544 Hypophosphatemia, Familial 12
C16.320.565.618.544.500 Familial Hypophosphatemic Rickets 27
C16.320.565.618.590 Menkes Kinky Hair Syndrome 12
C16.320.565.618.711 Paralyses, Familial Periodic 7
C16.320.565.618.815 Pseudohypoparathyroidism 31
C16.320.831.093 Acidosis, Renal Tubular 59
C16.320.831.271 Dent Disease 1
C16.320.831.450 Fanconi Syndrome 23
C16.320.831.491 Gitelman Syndrome 17
C16.320.831.532 Glycosuria, Renal 36
C16.320.831.647 Hypophosphatemia, Familial 12
C16.320.831.698 Liddle Syndrome 4
C16.320.831.770 Pseudohypoaldosteronism 9
C16.320.831.885 Renal Aminoacidurias 27
C18.452 Metabolic Diseases 1 196
C18.452.648.618.337 Hemochromatosis 198
C18.452.648.618.403 Hepatolenticular Degeneration 243
C18.452.648.618.482 Hypophosphatasia 16
C18.452.648.618.544 Hypophosphatemia, Familial 12
C18.452.648.618.544.500 Familial Hypophosphatemic Rickets 27
C18.452.648.618.590 Menkes Kinky Hair Syndrome 12
C18.452.648.618.711 Paralyses, Familial Periodic 7
C18.452.648.618.815 Pseudohypoparathyroidism 31
C18.452.750.400 Hypophosphatemia 51
C18.452.750.400.500 Hypophosphatemia, Familial 12
C18.452.750.400.500.500 Familial Hypophosphatemic Rickets 27
C18.452.750.400.750 Rickets, Hypophosphatemic 6

Hypophosphatemia, Renal, with Intracerebral Calcifications Disease MeSH Browser