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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease nephrocalcinosis
Symptom C0151723|hypomagnesemia
Sentences 23
PubMedID- 21283935 Familial hypomagnesemia and hypercalciuria with nephrocalcinosis is a rare autosomal recessive disease characterized by renal calcium and magnesium wasting, evolving in the progressive decrease of renal function, eventually requiring kidney transplant.
PubMedID- 25366522 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal disease caused by mutations in genes for the tight junction transmembrane proteins claudin-16 (cldn16) and claudin-19 (cldn19).
PubMedID- 26136118 Background: familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal disease characterized by tubular disorders at the thick ascending limb of henle's loop.
PubMedID- 22734304 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) is an autosomal recessive syndrome that affects the tight junction proteins claudin-16 and claudin-19 in the thick ascending limb.
PubMedID- 23455761 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc, omim no.
PubMedID- 25555744 First report of a novel missense cldn19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a chinese family.
PubMedID- 23389821 The most common tubulopathies are distal renal tubular acidosis (22.5 %) and classical bartter syndrome (19.3 %) followed by familial hypomagnesemia with hypercalciuria and nephrocalcinosis (15.7 %) and gitelman syndrome (15 %).
PubMedID- 21848011 A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets.
PubMedID- 23991001 Another example is familial hypomagnesemia associated with hypercalciuria and nephrocalcinosis (mutations in claudin16) .
PubMedID- 24339795 Cldn16, encoding claudin-16/paracellin-1, and cldn19, encoding claudin-19, are mutated in recessive familial hypomagnesemia with hypercalciuria and nephrocalcinosis .
PubMedID- 21633858 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations.
PubMedID- 24665375 For example, cldn2 forms paracellular channels that inhibit passage of anions but permit passage of cations and water.3 depletion of one type of cldn in mice causes various abnormalities,4 and mutations of cldns in humans result in various genetic diseases, including neonatal ichthyosis and sclerosing cholangitis (nisch) syndrome as well as familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) syndrome.5 therefore, cldns are essential for maintaining homeostasis as they provide barriers functions in epithelial tissues and regulate paracellular permeability.
PubMedID- 23301036 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure.
PubMedID- 22422540 The objectives of this study were to describe the clinical and genetic features of familial hypomagnesemia with hypercalciuria and nephrocalcinosis and analyze phenotype-genotype associations in patients with cldn16 or cldn19 mutations.
PubMedID- 25182135 Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.
PubMedID- 25410674 Background: familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) is an autosomal recessive tubular disease caused by mutations in the cldn16 or cldn19 gene.
PubMedID- 21186073 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) is an autosomal recessive renal tubular disorder that typically presents with disturbances in magnesium and calcium homeostasis, recurrent urinary tract infections, and polyuria and/or polydipsia.
PubMedID- 22162632 Various mutations in claudin-16 gene are seen in patients of familial hypomagnesemia with hypercalciuria and nephrocalcinosis, an autosomal recessive disease with severe mg2+ and ca2+ wasting .
PubMedID- 21791920 Background/aims: familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) is a rare renal tubular disorder complicated by progressive renal failure during childhood or adolescence.
PubMedID- 23538362 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) is a rare autosomal recessive disorder that is caused by mutation in the genes coding for tight junction proteins claudin-16 and claudin-19.
PubMedID- 23334384 Adenine phosphoribosyltransferase (aprt) deficiency, cystinuria, dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc), and primary hyperoxaluria (ph) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children.
PubMedID- 22731731 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) is a rare tubular disorder caused by mutations in genes coding for tight junction (tj) proteins.
PubMedID- 21717354 Mutations in the cldn16 gene have been identified in patients suffering from familial hypomagnesemia with hypercalciuria and nephrocalcinosis, with excessive renal wastage of mg2+ and ca2+ being a hallmark of this condition.

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