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<!--
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||
UID=20948
|
||
ConceptID=C0038238
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Steatorrhea</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20948</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.">C0038238</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Steatorrhea (disease)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Steatorrhea (66187002); Chronic steatorrhea (27868004); Fatty stool (66187002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002570">HP:0002570</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001075" target="_blank">MONDO:0001075</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet_content ln">Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. [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 class="portlet mgSection" id="ID_118">
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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=C0038238[DISCUI]&test_type=Clinical" ref="ncbi_uid=20948">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">Steatorrhea</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/3828" ref="tree=MeSH" title="MedGen record for Disorder of digestive system">Disorder of digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/78584" ref="tree=MeSH" title="MedGen record for Abnormality of the digestive system">Abnormality of the digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/927601" ref="tree=MeSH" title="MedGen record for Abnormality of digestive system physiology">Abnormality of digestive system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/811453" ref="tree=MeSH" title="MedGen record for Malabsorption">Malabsorption</a></span><ul><li><span class="TLline"><a href="/medgen/108215" ref="tree=MeSH" title="MedGen record for Fat malabsorption">Fat malabsorption</a></span><ul><li><span class="matched_ds">Steatorrhea</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<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_40266"><div><strong>Cholesteryl ester storage disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40266</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.">C0008384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from the infantile-onset form (Wolman disease) to later-onset forms collectively known as cholesterol ester storage disease (CESD). Wolman disease is characterized by infantile-onset malabsorption that results in malnutrition, storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and adrenal gland calcification that results in adrenal cortical insufficiency. Unless successfully treated with hematopoietic stem cell transplantation (HSCT), infants with classic Wolman disease do not survive beyond age one year. CESD may present in childhood in a manner similar to Wolman disease or later in life with such findings as serum lipid abnormalities, hepatosplenomegaly, and/or elevated liver enzymes long before a diagnosis is made. The morbidity of late-onset CESD results from atherosclerosis (coronary artery disease, stroke), liver disease (e.g., altered liver function ± jaundice, steatosis, fibrosis, cirrhosis and related complications of esophageal varices, and/or liver failure), complications of secondary hypersplenism (i.e., anemia and/or thrombocytopenia), and/or malabsorption. Individuals with CESD may have a normal life span depending on the severity of disease manifestations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40266">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_41393"><div><strong>Cystic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41393</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.">C0010674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41393">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_39126"><div><strong>Polyglandular autoimmune syndrome, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39126</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.">C0085860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 may occur at any age and in both sexes, but is most common in middle-aged females and is very rare in childhood (summary by Betterle et al., 2004). See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39126">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_116056"><div><strong>Hereditary pancreatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116056</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.">C0238339</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PRSS1-related hereditary pancreatitis (HP) is characterized by episodes of acute pancreatitis (AP) and recurrent acute pancreatitis (RAP: >1 episode of AP), with frequent progression to chronic pancreatitis (CP). Manifestations of acute pancreatitis can range from vague abdominal pain lasting one to three days to severe abdominal pain lasting days to weeks and requiring hospitalization.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116056">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87459"><div><strong>Pearson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87459</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.">C0342784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Single large-scale mitochondrial DNA deletion syndromes (SLSMDSs) comprise overlapping clinical phenotypes including Kearns-Sayre syndrome (KSS), KSS spectrum, Pearson syndrome (PS), chronic progressive external ophthalmoplegia (CPEO), and CPEO-plus. KSS is a progressive multisystem disorder with onset before age 20 years characterized by pigmentary retinopathy, CPEO, and cardiac conduction abnormality. Additional features can include cerebellar ataxia, tremor, intellectual disability or cognitive decline, dementia, sensorineural hearing loss, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, and endocrinopathies. Brain imaging typically shows bilateral lesions in the globus pallidus and white matter. KSS spectrum includes individuals with KSS in addition to individuals with ptosis and/or ophthalmoparesis and at least one of the following: retinopathy, ataxia, cardiac conduction defects, hearing loss, growth deficiency, cognitive impairment, tremor, or cardiomyopathy. Compared to CPEO-plus, individuals with KSS spectrum have more severe muscle involvement (e.g., weakness, atrophy) and overall have a worse prognosis. PS is characterized by pancytopenia (typically transfusion-dependent sideroblastic anemia with variable cell line involvement), exocrine pancreatic dysfunction, poor weight gain, and lactic acidosis. PS manifestations also include renal tubular acidosis, short stature, and elevated liver enzymes. PS may be fatal in infancy due to neutropenia-related infection or refractory metabolic acidosis. CPEO is characterized by ptosis, ophthalmoplegia, oropharyngeal weakness, variable proximal limb weakness, and/or exercise intolerance. CPEO-plus includes CPEO with additional multisystemic involvement including neuropathy, diabetes mellitus, migraines, hypothyroidism, neuropsychiatric manifestations, and optic neuropathy. Rarely, an SLSMDS can manifest as Leigh syndrome, which is characterized as developmental delays, neurodevelopmental regression, lactic acidosis, and bilateral symmetric basal ganglia, brain stem, and/or midbrain lesions on MRI.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/87459">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_138111"><div><strong>PMM2-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138111</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.">C0349653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia–intellectual disability, and adult stable disability. The clinical manifestations and course are highly variable, ranging from infants who die in the first year of life to mildly affected adults. Clinical findings tend to be similar in sibs. In the infantile multisystem presentation, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay. Feeding issues, vomiting, faltering growth, and developmental delay are frequently seen. Subcutaneous fat may be excessive over the buttocks and suprapubic region. Two distinct clinical courses are observed: (1) a nonfatal neurologic course with faltering growth, strabismus, developmental delay, cerebellar hypoplasia, and hepatopathy in infancy followed by neuropathy and retinitis pigmentosa in the first or second decade; and (2) a more severe neurologic-multivisceral course with approximately 20% mortality in the first year of life. The late-infantile and childhood ataxia–intellectual disability stage, which begins between ages three and ten years, is characterized by hypotonia, ataxia, severely delayed language and motor development, inability to walk, and IQ of 40 to 70; other findings include seizures, stroke-like episodes or transient unilateral loss of function, coagulopathy, retinitis pigmentosa, joint contractures, and skeletal deformities. In the adult stable disability stage, intellectual ability is stable; peripheral neuropathy is variable, progressive retinitis pigmentosa and myopia are seen, thoracic and spinal deformities with osteoporosis worsen, and premature aging is observed; females may lack secondary sexual development and males may exhibit decreased testicular volume. Hypogonadotropic hypogonadism and coagulopathy may occur. The risk for deep venous thrombosis is increased.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/138111">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_450547"><div><strong>Reynolds syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>450547</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.">C0748397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/450547">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_208651"><div><strong>Chylomicron retention disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208651</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.">C0795956</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Chylomicron retention disease (CMRD), characterized by the inability to secrete chylomicrons from the enterocytes following the ingestion of fat, typically presents in infancy with failure to thrive, diarrhea, vomiting, abdominal distention, and malabsorption of fat. This leads to steatorrhea – the severity of which relates to the fat content of the diet – and in some cases, hepatomegaly. Organ systems outside of the gastrointestinal tract may also be affected (often due to malnutrition and deficiencies of fat-soluble vitamins), including neuromuscular abnormalities (typically in the first or second decade of life) secondary to vitamin E deficiency, poor bone mineralization and delayed bone maturation due to vitamin D deficiency, prolonged international normalized ratio (INR) due to vitamin K deficiency, mild ophthalmologic issues (e.g., micronystagmus, delayed dark adaptation, abnormal visual evoked potentials, and abnormal scotopic electroretinograms), and (in a small proportion of adults) cardiomyopathy with decreased ejection fraction. Affected individuals typically have marked hypocholesterolemia, low plasma apolipoprotein B levels, normal-to-low plasma triglyceride levels, and low serum concentrations of fat-soluble vitamins (A, D, E, and K). Endoscopy typically demonstrates a gelée blanche ("white hoar frosting") appearance of the duodenal mucosa.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/208651">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_335883"><div><strong>Congenital bile acid synthesis defect 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335883</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.">C1843116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/335883">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_383840"><div><strong>Congenital bile acid synthesis defect 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383840</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.">C1856127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.\n\nThe signs and symptoms of congenital bile acid synthesis defect type 2 often develop in infancy. Affected infants usually have a failure to gain weight and grow at the expected rate (failure to thrive) and yellowing of the skin and eyes (jaundice) due to impaired bile flow and a buildup of partially formed bile. Excess fat in the feces (steatorrhea) is another feature of congenital bile acid synthesis defect type 2. As the condition progresses, affected individuals can develop liver abnormalities including inflammation or chronic liver disease (cirrhosis). Some individuals with congenital bile acid synthesis defect type 2 cannot absorb certain fat-soluble vitamins, which can result in softening and weakening of the bones (rickets) or problems with blood clotting that lead to prolonged bleeding.\n\nIf left untreated, congenital bile acid synthesis defect type 2 typically leads to cirrhosis and death in childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383840">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_395227"><div><strong>Celiac disease, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395227</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.">C1859310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/395227">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_400692"><div><strong>MPI-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400692</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.">C1865145</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065). CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhea with failure to thrive and protein-losing enteropathy with coagulopathy. Some patients develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated (Marquardt and Denecke, 2003). Thus, CDG Ib should be considered in the differential diagnosis of patients with unexplained hypoglycemia, chronic diarrhea, liver disease, or coagulopathy in order to allow early diagnosis and effective therapy (Vuillaumier-Barrot et al., 2002) Freeze and Aebi (1999) reviewed CDG Ib and CDG Ic (603147). Marques-da-Silva et al. (2017) systematically reviewed the literature concerning liver involvement in CDG.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/400692">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436369"><div><strong>Pancreatic insufficiency-anemia-hyperostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436369</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.">C2675184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. It has been described in four children, three boys and one girl, from two consanguineous families. The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit. Transmission is autosomal recessive.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/436369">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_414399"><div><strong>3-hydroxy-3-methylglutaryl-CoA synthase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414399</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.">C2751532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial HMG-CoA synthase deficiency (HMGCS2D) is an inherited metabolic disorder caused by a defect in the enzyme that regulates the formation of ketone bodies. Patients present with hypoketotic hypoglycemia, encephalopathy, and hepatomegaly, usually precipitated by an intercurrent infection or prolonged fasting (summary by Aledo et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414399">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462497"><div><strong>Congenital bile acid synthesis defect 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462497</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.">C3151147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital bile acid synthesis defect-3 (CBAS3) is an autosomal recessive disorder characterized by prolonged jaundice after birth, hepatomegaly, conjugated hyperbilirubinemia, elevations in characteristic abnormal bile acids, and progressive intrahepatic cholestasis with liver fibrosis (summary by Setchell et al., 1998 and Ueki et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see 607765.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462497">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_482157"><div><strong>Pancreatic triacylglycerol lipase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482157</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.">C3280527</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity (summary by Figarella et al., 1980).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482157">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_763607"><div><strong>Peroxisome biogenesis disorder type 3B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763607</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.">C3550693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763607">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_863174"><div><strong>Pancreatic agenesis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863174</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.">C4014737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Pancreatic agenesis-2 (PAGEN2) is an autosomal recessive disorder characterized by neonatal-onset diabetes mellitus and pancreatic exocrine deficiency (Weedon et al., 2014). For a discussion of genetic heterogeneity of pancreatic agenesis, see PAGEN1 (260370).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863174">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_864165"><div><strong>Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864165</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.">C4015728</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy. However, some patients may not display all features (summary by Picker-Minh et al., 2016, Sharkia et al., 2017). Genetic Heterogeneity of Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease See also IMNEPD2 (619418), caused by mutation in the YARS1 gene (603623) on chromosome 1p35.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/864165">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934591"><div><strong>Congenital bile acid synthesis defect 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934591</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.">C4310624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital bile acid synthesis defect-6 (CBAS6) is characterized by persistent hypertransaminasemia and accumulation of C27 bile acids (summary by Alonso-Pena et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see CBAS1 (607765).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934591">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1639219"><div><strong>Familial hypobetalipoproteinemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639219</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.">C4551990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Individuals with biallelic APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may present from infancy through to adulthood with a range of clinical symptoms including deficiency of fat-soluble vitamins and gastrointestinal and neurologic dysfunction. Affected individuals typically have plasma total cholesterol, LDL cholesterol, and apo B levels below the fifth centile for age and sex. Acanthocytosis, elevated liver enzymes, and hyperbilirubinemia may also be found. The most common clinical findings are hepatomegaly, steatorrhea, and failure to thrive / growth deficiency. In the absence of treatment, affected individuals can develop atypical pigmentation of the retina; progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle pain or weakness; dysarthria; ataxia; tremors; and steatohepatitis, fibrosis, and rarely, cirrhosis of the liver. Individuals with a heterozygous, typically truncating pathogenic variant in APOB are usually asymptomatic with mild liver dysfunction and hepatic steatosis. However, about 5%-10% of individuals with heterozygous APOB-FHBL develop relatively more severe nonalcoholic steatohepatitis requiring medical attention and occasionally progressing to cirrhosis, albeit very rarely.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639219">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1640046"><div><strong>Shwachman-Diamond syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640046</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.">C4692625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is an early finding. Short stature and recurrent infections are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640046">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1634617"><div><strong>Shwachman-Diamond syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634617</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.">C4693704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is an early finding. Short stature and recurrent infections are common.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634617">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1648322"><div><strong>Trichohepatoneurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648322</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.">C4748898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay (Morimoto et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648322">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684816"><div><strong>Neutropenia, severe congenital, 8, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684816</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.">C5203411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant severe congenital neutropenia-8 (SCN8) is a pleiotropic disorder with the consistent feature of decreased neutrophils associated with recurrent bacterial infections apparent from early infancy. Other hematologic parameters are usually normal, although some patients may have mild anemia. Bone marrow examination shows hypocellularity with arrested maturation of the granulocyte lineage at the level of promyelocytes or myeloblasts. Treatment with granulocyte colony-stimulating factor (GCSF; 138970) is usually ineffective or only partially effective, whereas hematopoietic bone marrow transplantation is effective. A subset of patients have additional features, including exocrine pancreatic insufficiency, which resembles Shwachman-Diamond syndrome (see SDS1, 260400), and/or neurologic deficits, including developmental delay, impaired intellectual development, speech delay, and/or autistic features (summary by Carapito et al., 2017 and Bellanne-Chantelot et al., 2018). For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684816">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1784105"><div><strong>Congenital short bowel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784105</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.">C5441717</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1784105">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1781366"><div><strong>Hypercholanemia, familial 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781366</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.">C5542604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hypercholanemia-1 (FHCA1) is an autosomal recessive disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins. Vitamin D deficiency results in rickets, and vitamin K deficiency results in a coagulopathy (Morton et al., 2000; Shneider et al., 1997; summary by Carlton et al., 2003). Genetic Heterogeneity of FHCA See FHCA2 (619256), caused by mutation in the SLC10A1 gene (182396) on chromosome 14q24, and FCHA3 (619232), caused by mutation in the BAAT gene (602938) on chromosome 9q31. Other disorders that may have hypercholanemia as a feature include THNS (618268), caused by mutation in the CCDC47 gene (618260) on chromosome 17q23, and NEDFHCA (621016), caused by mutation in the WDR83OS gene (618474) on chromosome 19p13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1781366">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794144"><div><strong>Bile acid malabsorption, primary, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794144</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.">C5561934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary bile acid malabsorption (PBAM) is an intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, and steatorrhea. Bile acid malabsorption has been classified into 3 main types depending on the etiology. Types 1 and 3 are secondary disorders: type 1 is due to ileal dysfunction resulting from Crohn disease or ileal resection, and type 3 is secondary to other conditions, including cholecystectomy, post-vagotomy, celiac disease, and pancreatic insufficiency. Type 2 bile acid malabsorption is a primary congenital disorder, including the rare type due to mutations in the SLC10A2 gene (review by Pattni and Walters, 2009). Genetic Heterogeneity of Primary Bile Acid Malabsorption Also see PBAM2 (619481), caused by mutation in the SLC51B gene (612085).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794144">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794172"><div><strong>Bile acid malabsorption, primary, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794172</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.">C5561962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary bile acid malabsorption-2 (PBAM2) is an autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease (Sultan et al., 2018). For discussion of genetic heterogeneity of primary bile acid malabsorption, see PBAM1 (613291).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794172">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-hydroxy-3-methylglutaryl-CoA synthase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794144" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bile acid malabsorption, primary, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794172" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bile acid malabsorption, primary, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Celiac disease, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_40266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholesteryl ester storage disease</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (29)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208651" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chylomicron retention disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934591" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1784105" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital short bowel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cystic fibrosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639219" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hypobetalipoproteinemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116056" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary pancreatitis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholanemia, familial 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MPI-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_864165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutropenia, severe congenital, 8, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic agenesis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436369" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic insufficiency-anemia-hyperostosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic triacylglycerol lipase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pearson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder type 3B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_138111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PMM2-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39126" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyglandular autoimmune syndrome, type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_450547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reynolds syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1640046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shwachman-Diamond syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shwachman-Diamond syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichohepatoneurodevelopmental syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37737818">AGA Clinical Practice Update on the Epidemiology, Evaluation, and Management of Exocrine Pancreatic Insufficiency: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitcomb DC,
|
||
Buchner AM,
|
||
Forsmark CE</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2023 Nov;165(5):1292-1301.
|
||
Epub 2023 Sep 20
|
||
doi: 10.1053/j.gastro.2023.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37737818" target="_blank">37737818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24259956">Diagnosis and treatment of pancreatic exocrine insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindkvist B</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2013 Nov 14;19(42):7258-66.
|
||
doi: 10.3748/wjg.v19.i42.7258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24259956" target="_blank">24259956</a><a href="/pmc/articles/PMC3831207" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23609613">ACG clinical guidelines: diagnosis and management of celiac disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rubio-Tapia A,
|
||
Hill ID,
|
||
Kelly CP,
|
||
Calderwood AH,
|
||
Murray JA;
|
||
American College of Gastroenterology</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2013 May;108(5):656-76; quiz 677.
|
||
Epub 2013 Apr 23
|
||
doi: 10.1038/ajg.2013.79.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23609613" target="_blank">23609613</a><a href="/pmc/articles/PMC3706994" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22steatorrhea%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 (82)</a></div></div>
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|
||
<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/37737818">AGA Clinical Practice Update on the Epidemiology, Evaluation, and Management of Exocrine Pancreatic Insufficiency: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitcomb DC,
|
||
Buchner AM,
|
||
Forsmark CE</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2023 Nov;165(5):1292-1301.
|
||
Epub 2023 Sep 20
|
||
doi: 10.1053/j.gastro.2023.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37737818" target="_blank">37737818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37278811">Cystic Fibrosis: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ong T,
|
||
Ramsey BW</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Jun 6;329(21):1859-1871.
|
||
doi: 10.1001/jama.2023.8120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37278811" target="_blank">37278811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21397320">Chronic pancreatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braganza JM,
|
||
Lee SH,
|
||
McCloy RF,
|
||
McMahon MJ</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2011 Apr 2;377(9772):1184-97.
|
||
doi: 10.1016/S0140-6736(10)61852-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21397320" target="_blank">21397320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8434293">Chronic pancreatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holt S</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1993 Feb;86(2):201-7.
|
||
doi: 10.1097/00007611-199302000-00012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8434293" target="_blank">8434293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14288148">CYSTIC FIBROSIS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">ASAY LD</span><br />
|
||
<span class="medgenPMjournal">Calif Med</span>
|
||
1965 Apr;102(4):292-300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14288148" target="_blank">14288148</a><a href="/pmc/articles/PMC1515750" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Steatorrhea%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 (427)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24259956">Diagnosis and treatment of pancreatic exocrine insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindkvist B</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2013 Nov 14;19(42):7258-66.
|
||
doi: 10.3748/wjg.v19.i42.7258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24259956" target="_blank">24259956</a><a href="/pmc/articles/PMC3831207" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21944390">Diarrhea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deepak P,
|
||
Ehrenpreis ED</span><br />
|
||
<span class="medgenPMjournal">Dis Mon</span>
|
||
2011 Sep;57(9):490-510.
|
||
doi: 10.1016/j.disamonth.2011.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21944390" target="_blank">21944390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21397320">Chronic pancreatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braganza JM,
|
||
Lee SH,
|
||
McCloy RF,
|
||
McMahon MJ</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2011 Apr 2;377(9772):1184-97.
|
||
doi: 10.1016/S0140-6736(10)61852-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21397320" target="_blank">21397320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8434293">Chronic pancreatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holt S</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1993 Feb;86(2):201-7.
|
||
doi: 10.1097/00007611-199302000-00012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8434293" target="_blank">8434293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1174208">Giardiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolfe MS</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1975 Sep 29;233(13):1362-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1174208" target="_blank">1174208</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Steatorrhea%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 (554)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37278811">Cystic Fibrosis: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ong T,
|
||
Ramsey BW</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Jun 6;329(21):1859-1871.
|
||
doi: 10.1001/jama.2023.8120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37278811" target="_blank">37278811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24259956">Diagnosis and treatment of pancreatic exocrine insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindkvist B</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2013 Nov 14;19(42):7258-66.
|
||
doi: 10.3748/wjg.v19.i42.7258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24259956" target="_blank">24259956</a><a href="/pmc/articles/PMC3831207" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21944390">Diarrhea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deepak P,
|
||
Ehrenpreis ED</span><br />
|
||
<span class="medgenPMjournal">Dis Mon</span>
|
||
2011 Sep;57(9):490-510.
|
||
doi: 10.1016/j.disamonth.2011.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21944390" target="_blank">21944390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8434293">Chronic pancreatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holt S</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1993 Feb;86(2):201-7.
|
||
doi: 10.1097/00007611-199302000-00012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8434293" target="_blank">8434293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1174208">Giardiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolfe MS</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1975 Sep 29;233(13):1362-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1174208" target="_blank">1174208</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Steatorrhea%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 (396)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34508834">Pathophysiology and Management of Hyperoxaluria and Oxalate Nephropathy: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demoulin N,
|
||
Aydin S,
|
||
Gillion V,
|
||
Morelle J,
|
||
Jadoul M</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2022 May;79(5):717-727.
|
||
Epub 2021 Sep 9
|
||
doi: 10.1053/j.ajkd.2021.07.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34508834" target="_blank">34508834</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29137169">Pancreatic Exocrine Insufficiency after Bariatric Surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vujasinovic M,
|
||
Valente R,
|
||
Thorell A,
|
||
Rutkowski W,
|
||
Haas SL,
|
||
Arnelo U,
|
||
Martin L,
|
||
Löhr JM</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2017 Nov 13;9(11)
|
||
doi: 10.3390/nu9111241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29137169" target="_blank">29137169</a><a href="/pmc/articles/PMC5707713" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28272344">Nutritional and Metabolic Derangements in Pancreatic Cancer and Pancreatic Resection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilliland TM,
|
||
Villafane-Ferriol N,
|
||
Shah KP,
|
||
Shah RM,
|
||
Tran Cao HS,
|
||
Massarweh NN,
|
||
Silberfein EJ,
|
||
Choi EA,
|
||
Hsu C,
|
||
McElhany AL,
|
||
Barakat O,
|
||
Fisher W,
|
||
Van Buren G</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2017 Mar 7;9(3)
|
||
doi: 10.3390/nu9030243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28272344" target="_blank">28272344</a><a href="/pmc/articles/PMC5372906" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24259956">Diagnosis and treatment of pancreatic exocrine insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindkvist B</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2013 Nov 14;19(42):7258-66.
|
||
doi: 10.3748/wjg.v19.i42.7258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24259956" target="_blank">24259956</a><a href="/pmc/articles/PMC3831207" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8434293">Chronic pancreatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holt S</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1993 Feb;86(2):201-7.
|
||
doi: 10.1097/00007611-199302000-00012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8434293" target="_blank">8434293</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Steatorrhea%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 (236)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37278811">Cystic Fibrosis: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ong T,
|
||
Ramsey BW</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Jun 6;329(21):1859-1871.
|
||
doi: 10.1001/jama.2023.8120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37278811" target="_blank">37278811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37094906">Chronic pancreatitis and nutritional support.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Campagnola P,
|
||
de Pretis N,
|
||
Zorzi A,
|
||
Caldart F,
|
||
Frulloni L</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
|
||
2023 Feb-Mar;62-63:101823.
|
||
Epub 2023 Feb 3
|
||
doi: 10.1016/j.bpg.2023.101823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37094906" target="_blank">37094906</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30883385">Chronic diarrhoea in adults: what not to miss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Major GAD,
|
||
Gunn D</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Gastroenterol</span>
|
||
2019 May;35(3):206-212.
|
||
doi: 10.1097/MOG.0000000000000516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30883385" target="_blank">30883385</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24259956">Diagnosis and treatment of pancreatic exocrine insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindkvist B</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2013 Nov 14;19(42):7258-66.
|
||
doi: 10.3748/wjg.v19.i42.7258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24259956" target="_blank">24259956</a><a href="/pmc/articles/PMC3831207" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22782018">Chronic pancreatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiMagno MJ,
|
||
DiMagno EP</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Gastroenterol</span>
|
||
2012 Sep;28(5):523-31.
|
||
doi: 10.1097/MOG.0b013e3283567dea.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22782018" target="_blank">22782018</a><a href="/pmc/articles/PMC3480324" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Steatorrhea%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 (233)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37440180">A Systematic Review of Exocrine Pancreatic Insufficiency Prevalence and Treatment in Type 1 and Type 2 Diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lewis DM</span><br />
|
||
<span class="medgenPMjournal">Diabetes Technol Ther</span>
|
||
2023 Sep;25(9):659-672.
|
||
Epub 2023 Jul 13
|
||
doi: 10.1089/dia.2023.0157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37440180" target="_blank">37440180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33558869">Exocrine pancreatic insufficiency after esophagectomy: a systematic review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blonk L,
|
||
Wierdsma NJ,
|
||
Jansma EP,
|
||
Kazemier G,
|
||
van der Peet DL,
|
||
Straatman J</span><br />
|
||
<span class="medgenPMjournal">Dis Esophagus</span>
|
||
2021 Dec 24;34(12)
|
||
doi: 10.1093/dote/doab003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33558869" target="_blank">33558869</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29804317">Shwachman-Diamond syndrome: Nationwide survey and systematic review in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ikuse T,
|
||
Kudo T,
|
||
Arai K,
|
||
Fujii Y,
|
||
Ida S,
|
||
Ishii T,
|
||
Mushiake S,
|
||
Nagata K,
|
||
Tamai H,
|
||
Toki A,
|
||
Tomomasa T,
|
||
Ushijima K,
|
||
Yanagi T,
|
||
Yonekura T,
|
||
Taguchi T,
|
||
Shimizu T</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2018 Aug;60(8):719-726.
|
||
Epub 2018 Jul 10
|
||
doi: 10.1111/ped.13601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29804317" target="_blank">29804317</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29374614">Diagnostic Performance of Measurement of Fecal Elastase-1 in Detection of Exocrine Pancreatic Insufficiency: Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanga RR,
|
||
Tansel A,
|
||
Sidiq S,
|
||
El-Serag HB,
|
||
Othman MO</span><br />
|
||
<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
|
||
2018 Aug;16(8):1220-1228.e4.
|
||
Epub 2018 Jan 31
|
||
doi: 10.1016/j.cgh.2018.01.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29374614" target="_blank">29374614</a><a href="/pmc/articles/PMC6402774" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24602022">Systematic review: the management of chronic diarrhoea due to bile acid malabsorption.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilcox C,
|
||
Turner J,
|
||
Green J</span><br />
|
||
<span class="medgenPMjournal">Aliment Pharmacol Ther</span>
|
||
2014 May;39(9):923-39.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1111/apt.12684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24602022" target="_blank">24602022</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Steatorrhea%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0038238%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
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<li><a href="/gtr/tests?term=C0038238%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
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