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<!--
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UID=78638
|
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ConceptID=C0268079
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperphosphaturia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78638</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268079</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>High urine phosphate levels; Phosphaturia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hyperphosphaturia (22450000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003109">HP:0003109</a></td></tr>
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|
||
<div class="portlet_content ln">An increased excretion of phosphates in the urine. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268079[DISCUI]&test_type=Clinical" ref="ncbi_uid=78638">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Hyperphosphaturia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871178" ref="tree=MeSH" title="MedGen record for Abnormality of urine homeostasis">Abnormality of urine homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/868439" ref="tree=MeSH" title="MedGen record for Abnormal urinary electrolyte concentration">Abnormal urinary electrolyte concentration</a></span><ul><li><span class="TLline"><a href="/medgen/868434" ref="tree=MeSH" title="MedGen record for Abnormal urine phosphate concentration">Abnormal urine phosphate concentration</a></span><ul><li><span class="matched_ds">Hyperphosphaturia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_42105"><div><strong>Hereditary fructosuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42105</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0016751</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Following dietary exposure to fructose, sucrose, or sorbitol, untreated hereditary fructose intolerance (HFI) is characterized by metabolic disturbances (hypoglycemia, lactic acidemia, hypophosphatemia, hyperuricemia, hypermagnesemia, hyperalaninemia) and clinical findings (nausea, vomiting, and abdominal distress; chronic growth restriction / failure to thrive). While untreated HFI typically first manifested when fructose- and sucrose-containing foods were introduced in the course of weaning young infants from breast milk, it is now presenting earlier, due to the addition of fructose-containing nutrients in infant formulas. If the infant ingests large quantities of fructose, the infant may acutely develop lethargy, seizures, and/or progressive coma. Untreated HFI may result in renal and hepatic failure. If identified and treated before permanent organ injury occurs, individuals with HFI can experience a normal quality of life and life expectancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42105">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_42426"><div><strong>Wilson disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42426</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wilson disease is a disorder of copper metabolism that, when untreated, can present with hepatic, neurologic, or psychiatric disturbances – or a combination of these – in individuals ages three years to older than 70 years. Manifestations in untreated individuals vary among and within families. Liver disease can include recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations can include dysarthria, movement disorders (tremors, involuntary movements, chorea, choreoathetosis), dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement), dysautonomia, seizures, sleep disorders, or insomnia. Psychiatric disturbances can include depression, bipolar disorder / bipolar spectrum disorder, neurotic behaviors, personality changes, or psychosis. Other multisystem involvement can include the eye (Kayser-Fleischer rings), hemolytic anemia, the kidneys, the endocrine glands, and the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42426">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_18145"><div><strong>Lowe syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18145</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18145">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120529"><div><strong>Metaphyseal chondrodysplasia, Jansen type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120529</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120529">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331326"><div><strong>Neonatal severe primary hyperparathyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331326</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neonatal severe hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone demineralization, and failure to thrive. Early diagnosis is critical because untreated NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. Some infants have milder hyperparathyroidism and a substantially milder clinical presentation and natural history (summary by Egbuna and Brown, 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331326">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336322"><div><strong>Dent disease type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336322</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336322">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394127"><div><strong>Hypophosphatemic nephrolithiasis/osteoporosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394127</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676782</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394127">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436776"><div><strong>Hypophosphatemic nephrolithiasis/osteoporosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436776</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436776">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442380"><div><strong>Hypophosphatemic rickets, autosomal recessive, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442380</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Researchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer.\n\nAnother rare type of the disorder is known as hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this condition is characterized by the excretion of high levels of calcium in the urine (hypercalciuria).\n\nOther signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia.\n\nIn most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. The features of the disorder vary widely, even among affected members of the same family. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. More severely affected children experience slow growth and are shorter than their peers. They develop bone abnormalities that can interfere with movement and cause bone pain. The most noticeable of these abnormalities are bowed legs or knock knees. These abnormalities become apparent with weight-bearing activities such as walking. If untreated, they tend to worsen with time.\n\nHereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442380">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419735"><div><strong>Nephropathic cystinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419735</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931187</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419735">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501176"><div><strong>Fanconi-Bickel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501176</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3495427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/501176">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816430"><div><strong>Fanconi renotubular syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816430</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3810100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi renotubular syndrome-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria (summary by Klootwijk et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816430">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863399"><div><strong>Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863399</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863399">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1635492"><div><strong>Fanconi renotubular syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635492</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635492">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646345"><div><strong>Linear nevus sebaceous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646345</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4552097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646345">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1750917"><div><strong>Mitochondrial complex IV deficiency, nuclear type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750917</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5435656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 1 (MC4DN1) is an autosomal recessive metabolic disorder characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills between about 5 and 18 months of age after normal early development. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, and poor eye contact. Other features may include oculomotor abnormalities, including slow saccades, strabismus, ophthalmoplegia, and nystagmus, as well as deafness, apneic episodes, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Some patients may also have abnormalities in the brainstem and cerebellum. Laboratory studies usually show increased serum and CSF lactate and decreased levels and activity of mitochondrial respiratory complex IV in patient tissues. There is phenotypic variability, but death in childhood, often due to central respiratory failure, is common (summary by Tiranti et al., 1998; Tiranti et al., 1999; Teraoka et al., 1999; Poyau et al., 2000) Genetic Heterogeneity of Mitochondrial Complex IV Deficiency Most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare (Shoubridge, 2001; Sacconi et al., 2003). Mitochondrial complex IV deficiency caused by mutation in nuclear-encoded genes, in addition to MC4DN1, include MC4DN2 (604377), caused by mutation in the SCO2 gene (604272); MC4DN3 (619046), caused by mutation in the COX10 gene (602125); MC4DN4 (619048), caused by mutation in the SCO1 gene (603664); MC4DN5 (220111), caused by mutation in the LRPPRC gene (607544); MC4DN6 (615119), caused by mutation in the COX15 gene (603646); MC4DN7 (619051), caused by mutation in the COX6B1 gene (124089); MC4DN8 (619052), caused by mutation in the TACO1 gene (612958); MC4DN9 (616500), caused by mutation in the COA5 gene (613920); MC4DN10 (619053), caused by mutation in the COX14 gene (614478); MC4DN11 (619054), caused by mutation in the COX20 gene (614698); MC4DN12 (619055), caused by mutation in the PET100 gene (614770); MC4DN13 (616501), caused by mutation in the COA6 gene (614772); MC4DN14 (619058), caused by mutation in the COA3 gene (614775); MC4DN15 (619059), caused by mutation in the COX8A gene (123870); MC4DN16 (619060), caused by mutation in the COX4I1 gene (123864); MC4DN17 (619061), caused by mutation in the APOPT1 gene (616003); MC4DN18 (619062), caused by mutation in the COX6A2 gene (602009); MC4DN19 (619063), caused by mutation in the PET117 gene (614771); MC4DN20 (619064), caused by mutation in the COX5A gene (603773); MC4DN21 (619065), caused by mutation in the COXFA4 gene (603883); MC4DN22 (619355), caused by mutation in the COX16 gene (618064); and MC4DN23 (620275), caused by mutation in the COX11 gene (603648). Mitochondrial complex IV deficiency has been associated with mutations in several mitochondrial genes, including MTCO1 (516030), MTCO2 (516040), MTCO3 (516050), MTTS1 (590080), MTTL1 (590050), and MTTN (590010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1750917">Condition Record</a></div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dent disease type 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1635492" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 3</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi-Bickel syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42105" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary fructosuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436776" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic nephrolithiasis/osteoporosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic nephrolithiasis/osteoporosis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic rickets, autosomal recessive, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear nevus sebaceous syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lowe syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Jansen type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex IV deficiency, nuclear type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331326" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal severe primary hyperparathyroidism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephropathic cystinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilson disease</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/26857895">Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreira CR,
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Ziegler SG,
|
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Gupta A,
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Groden C,
|
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Hsu KS,
|
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Gahl WA</span><br />
|
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
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2016 May;170A(5):1308-11.
|
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Epub 2016 Feb 9
|
||
doi: 10.1002/ajmg.a.37574.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26857895" target="_blank">26857895</a><a href="/pmc/articles/PMC4833596" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20016754">Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Rutsch F,
|
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Böyer P,
|
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Nitschke Y,
|
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Ruf N,
|
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Lorenz-Depierieux B,
|
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Wittkampf T,
|
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Weissen-Plenz G,
|
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Fischer RJ,
|
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Mughal Z,
|
||
Gregory JW,
|
||
Davies JH,
|
||
Loirat C,
|
||
Strom TM,
|
||
Schnabel D,
|
||
Nürnberg P,
|
||
Terkeltaub R;
|
||
GACI Study Group</span><br />
|
||
<span class="medgenPMjournal">Circ Cardiovasc Genet</span>
|
||
2008 Dec;1(2):133-40.
|
||
doi: 10.1161/CIRCGENETICS.108.797704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20016754" target="_blank">20016754</a><a href="/pmc/articles/PMC2794045" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/264790">Electrolyte and acid-base disturbances in the management of leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Regan S,
|
||
Carson S,
|
||
Chesney RW,
|
||
Drummond KN</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
1977 Mar;49(3):345-53.
|
||
<span class="bold">PMID: </span><a href="/pubmed/264790" target="_blank">264790</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperphosphaturia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38275162">Rare renal proximal tubular dysfunctions in primary biliary cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi X,
|
||
Guo T,
|
||
Wen Y,
|
||
Ye W,
|
||
Ye W,
|
||
Zheng K,
|
||
Qin Y,
|
||
Li X,
|
||
Zhang F,
|
||
Chen L</span><br />
|
||
<span class="medgenPMjournal">Ren Fail</span>
|
||
2024 Dec;46(1):2302409.
|
||
Epub 2024 Jan 26
|
||
doi: 10.1080/0886022X.2024.2302409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38275162" target="_blank">38275162</a><a href="/pmc/articles/PMC10823888" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34758368">Recent and Emerging Therapies for Iron Deficiency in Anemia of CKD: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bazeley JW,
|
||
Wish JB</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2022 Jun;79(6):868-876.
|
||
Epub 2021 Nov 7
|
||
doi: 10.1053/j.ajkd.2021.09.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34758368" target="_blank">34758368</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27230467">Renal and Bone Toxicity with the Use of Tenofovir: Understanding at the End.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casado JL</span><br />
|
||
<span class="medgenPMjournal">AIDS Rev</span>
|
||
2016 Apr-Jun;18(2):59-68.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27230467" target="_blank">27230467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2081516">Renal tubular acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rothstein M,
|
||
Obialo C,
|
||
Hruska KA</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
1990 Dec;19(4):869-87.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2081516" target="_blank">2081516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4518614">Hyperphosphatemia, hyperphosphaturia and hypocalcemia in acute lymphoblastic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zusman J,
|
||
Brown DM,
|
||
Nesbit ME</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1973 Dec 20;289(25):1335-40.
|
||
doi: 10.1056/NEJM197312202892503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4518614" target="_blank">4518614</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphosphaturia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (49)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34758368">Recent and Emerging Therapies for Iron Deficiency in Anemia of CKD: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bazeley JW,
|
||
Wish JB</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2022 Jun;79(6):868-876.
|
||
Epub 2021 Nov 7
|
||
doi: 10.1053/j.ajkd.2021.09.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34758368" target="_blank">34758368</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8525389">Tumor-induced osteomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schapira D,
|
||
Ben Izhak O,
|
||
Nachtigal A,
|
||
Burstein A,
|
||
Shalom RB,
|
||
Shagrawi I,
|
||
Best LA</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
1995 Aug;25(1):35-46.
|
||
doi: 10.1016/s0049-0172(95)80016-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8525389" target="_blank">8525389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8060772">Tumor-induced osteomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hewison M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Rheumatol</span>
|
||
1994 May;6(3):340-4.
|
||
doi: 10.1097/00002281-199405000-00017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8060772" target="_blank">8060772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2081516">Renal tubular acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rothstein M,
|
||
Obialo C,
|
||
Hruska KA</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
1990 Dec;19(4):869-87.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2081516" target="_blank">2081516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3707033">Renal tubular acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woo KT,
|
||
Kumari M,
|
||
Lim CH</span><br />
|
||
<span class="medgenPMjournal">Ann Acad Med Singap</span>
|
||
1986 Jan;15(1):40-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3707033" target="_blank">3707033</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphosphaturia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (65)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36210014">Phosphatonins: From Discovery to Therapeutics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kritmetapak K,
|
||
Kumar R</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2023 Jan;29(1):69-79.
|
||
Epub 2022 Oct 7
|
||
doi: 10.1016/j.eprac.2022.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36210014" target="_blank">36210014</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34758368">Recent and Emerging Therapies for Iron Deficiency in Anemia of CKD: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bazeley JW,
|
||
Wish JB</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2022 Jun;79(6):868-876.
|
||
Epub 2021 Nov 7
|
||
doi: 10.1053/j.ajkd.2021.09.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34758368" target="_blank">34758368</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27230467">Renal and Bone Toxicity with the Use of Tenofovir: Understanding at the End.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casado JL</span><br />
|
||
<span class="medgenPMjournal">AIDS Rev</span>
|
||
2016 Apr-Jun;18(2):59-68.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27230467" target="_blank">27230467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16369891">Clinical approach to clarifying the mechanism of abnormal bone metabolism in McCune-Albright syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamoto T</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Metab</span>
|
||
2006;24(1):7-10.
|
||
doi: 10.1007/s00774-005-0638-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16369891" target="_blank">16369891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4518614">Hyperphosphatemia, hyperphosphaturia and hypocalcemia in acute lymphoblastic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zusman J,
|
||
Brown DM,
|
||
Nesbit ME</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1973 Dec 20;289(25):1335-40.
|
||
doi: 10.1056/NEJM197312202892503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4518614" target="_blank">4518614</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphosphaturia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (51)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38837007">X-Linked hypophosphatemia. Data from a Spanish adult population cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López-Romero LC,
|
||
Broseta JJ,
|
||
Muñoz-Castañeda JR,
|
||
Hernández-Jaras J</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2024 Jun;37(5):1251-1260.
|
||
Epub 2024 Jun 5
|
||
doi: 10.1007/s40620-024-01962-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38837007" target="_blank">38837007</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38275162">Rare renal proximal tubular dysfunctions in primary biliary cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi X,
|
||
Guo T,
|
||
Wen Y,
|
||
Ye W,
|
||
Ye W,
|
||
Zheng K,
|
||
Qin Y,
|
||
Li X,
|
||
Zhang F,
|
||
Chen L</span><br />
|
||
<span class="medgenPMjournal">Ren Fail</span>
|
||
2024 Dec;46(1):2302409.
|
||
Epub 2024 Jan 26
|
||
doi: 10.1080/0886022X.2024.2302409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38275162" target="_blank">38275162</a><a href="/pmc/articles/PMC10823888" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30340545">TINU-associated Fanconi syndrome: a case report and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vô B,
|
||
Yombi JC,
|
||
Aydin S,
|
||
Demoulin N,
|
||
Yildiz H</span><br />
|
||
<span class="medgenPMjournal">BMC Nephrol</span>
|
||
2018 Oct 19;19(1):274.
|
||
doi: 10.1186/s12882-018-1077-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30340545" target="_blank">30340545</a><a href="/pmc/articles/PMC6194638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26857895">Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreira CR,
|
||
Ziegler SG,
|
||
Gupta A,
|
||
Groden C,
|
||
Hsu KS,
|
||
Gahl WA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 May;170A(5):1308-11.
|
||
Epub 2016 Feb 9
|
||
doi: 10.1002/ajmg.a.37574.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26857895" target="_blank">26857895</a><a href="/pmc/articles/PMC4833596" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17162140">Aminoglycoside-associated Fanconi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghiculescu RA,
|
||
Kubler PA</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2006 Dec;48(6):e89-93.
|
||
doi: 10.1053/j.ajkd.2006.08.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17162140" target="_blank">17162140</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphosphaturia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (27)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30109410">Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergwitz C,
|
||
Miyamoto KI</span><br />
|
||
<span class="medgenPMjournal">Pflugers Arch</span>
|
||
2019 Jan;471(1):149-163.
|
||
Epub 2018 Aug 14
|
||
doi: 10.1007/s00424-018-2184-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30109410" target="_blank">30109410</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27230467">Renal and Bone Toxicity with the Use of Tenofovir: Understanding at the End.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casado JL</span><br />
|
||
<span class="medgenPMjournal">AIDS Rev</span>
|
||
2016 Apr-Jun;18(2):59-68.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27230467" target="_blank">27230467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17976083">Regulatory mechanisms of circulating fibroblast growth factor 23 in parathyroid diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Imanishi Y,
|
||
Kobayashi K,
|
||
Kawata T,
|
||
Inaba M,
|
||
Nishizawa Y</span><br />
|
||
<span class="medgenPMjournal">Ther Apher Dial</span>
|
||
2007 Oct;11 Suppl 1:S32-7.
|
||
doi: 10.1111/j.1744-9987.2007.00519.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17976083" target="_blank">17976083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17976080">Role of megalin, a proximal tubular endocytic receptor, in calcium and phosphate homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saito A,
|
||
Iino N,
|
||
Takeda T,
|
||
Gejyo F</span><br />
|
||
<span class="medgenPMjournal">Ther Apher Dial</span>
|
||
2007 Oct;11 Suppl 1:S23-6.
|
||
doi: 10.1111/j.1744-9987.2007.00514.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17976080" target="_blank">17976080</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16175002">An unusual cause of hypokalemic paralysis: aristolochic acid nephropathy with Fanconi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsai CS,
|
||
Chen YC,
|
||
Chen HH,
|
||
Cheng CJ,
|
||
Lin SH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Sci</span>
|
||
2005 Sep;330(3):153-5.
|
||
doi: 10.1097/00000441-200509000-00012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16175002" target="_blank">16175002</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphosphaturia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (38)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268079%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
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<li><a href="/gtr/tests?term=C0268079%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (16)</a></li>
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