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<!--
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UID=66659
|
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ConceptID=C0231274
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Heat intolerance</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66659</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.">C0231274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Intolerance to heat and fevers</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Sensitive to heat (69215007); Gets overheated (69215007); Intolerant of heat (69215007)</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:0002046">HP:0002046</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">The inability to maintain a comfortable body temperature in warm or hot weather. [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_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 unavailable round" title="Clinical test">C</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">Heat intolerance</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/868551" ref="tree=MeSH" title="MedGen record for Abnormal homeostasis">Abnormal homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/330395" ref="tree=MeSH" title="MedGen record for Abnormality of temperature regulation">Abnormality of temperature regulation</a></span><ul><li><span class="matched_ds">Heat intolerance</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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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">
|
||
<div class="divPopper rprt" id="rdis_57890"><div><strong>Hypohidrotic X-linked ectodermal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57890</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.">C0162359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57890">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_91010"><div><strong>Naegeli-Franceschetti-Jadassohn syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91010</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.">C0343111</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a rare autosomal dominant disorder of skin, hair, and teeth. It is characterized by complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation that tends to disappear with age, thickening of the palms and soles (palmoplantar keratoderma), and decreased sweating. Dental anomalies including enamel defects, skin blistering, and nail dystrophy have been reported in some patients. It can be distinguished from dermatopathia pigmentosa reticularis (DPR) by the latter's features of lifelong persistence of the skin hyperpigmentation, partial alopecia, and absence of dental anomalies (summary by Lugassy et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91010">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339994"><div><strong>Phelan-McDermid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339994</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.">C1853490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phelan-McDermid syndrome-SHANK3 related (PMS-SHANK3 related) is characterized by neonatal hypotonia, absent to severely delayed speech, developmental delay, and minor dysmorphic facial features. Most affected individuals have moderate-to-profound intellectual disability. Other features include relatively large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Normal stature and normal head size distinguish PMS-SHANK3 related from other autosomal chromosome disorders. Neurobehavioral characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior. Some individuals experience regression / loss of skills, epilepsy, ataxic/abnormal gait, and sleep disturbance (difficulty falling asleep and staying asleep, hypersomnia, and parasomnias). Less commonly, affected individuals may have strabismus, vision problems (hyperopia or myopia), cardiac anomalies, renal anomalies, and lymphedema. Those who have PMS-SHANK3 related due to a ring chromosome 22 also have a high risk of developing features of NF2-related schwannomatosis (NF2).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339994">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410143"><div><strong>Tooth agenesis, selective, X-linked, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410143</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.">C1970757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410143">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394295"><div><strong>Ectodermal dysplasia and immunodeficiency 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394295</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.">C2677481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by Boisson et al., 2017). Some patients may also have neutrophilia and autoinflammatory disease, such as liver disease (Tan et al., 2020). Mutations in the NFKBIA gene result in functional impairment of NFKB (see 164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007). For discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see 300291.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394295">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_440578"><div><strong>Combined immunodeficiency due to ORAI1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440578</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.">C2748568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-9 (IMD9) is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440578">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462157"><div><strong>Ectodermal dysplasia-syndactyly syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462157</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.">C3150807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical-shaped teeth, palmoplantar keratoderma, and partial cutaneous syndactyly (summary by Raza et al., 2015). Genetic Heterogeneity of Ectodermal Dysplasia-Syndactyly Syndrome Ectodermal dysplasia-syndactyly syndrome-2 (EDSS2; 613576) maps to chromosome 7p21-p14.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462157">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_761665"><div><strong>Autosomal recessive congenital ichthyosis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761665</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.">C3539888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/761665">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815336"><div><strong>Cardiofaciocutaneous syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815336</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.">C3809006</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, and woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Affected individuals typically have some form of neurologic and/or cognitive delay (ranging from mild to severe). Most individuals have severe feeding issues, which can contribute to poor growth, and many require nasogastric or gastrostomy tube feeding. Many affected individuals have eye findings, including strabismus, nystagmus, refractive errors, and optic nerve hypoplasia. Seizures may be present and can be refractory to therapy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815336">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815337"><div><strong>Cardiofaciocutaneous syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815337</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.">C3809007</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, and woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Affected individuals typically have some form of neurologic and/or cognitive delay (ranging from mild to severe). Most individuals have severe feeding issues, which can contribute to poor growth, and many require nasogastric or gastrostomy tube feeding. Many affected individuals have eye findings, including strabismus, nystagmus, refractive errors, and optic nerve hypoplasia. Seizures may be present and can be refractory to therapy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815337">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854356"><div><strong>Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854356</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.">C3887494</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854356">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854747"><div><strong>Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854747</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.">C3888065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854747">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1621482"><div><strong>HELIX syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621482</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.">C4522164</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HELIX syndrome is an autosomal recessive disorder characterized by Hypohidrosis, Electrolyte imbalance, Lacrimal gland dysfunction, Ichthyosis, and Xerostomia (summary by Hadj-Rabia et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1621482">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794174"><div><strong>Central hypoventilation syndrome, congenital, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794174</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.">C5561964</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital central hypoventilation syndrome-3 (CCHS3) is an autosomal recessive disorder characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present in the neonatal period with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Patients also have gastrointestinal problems manifest as feeding difficulties and diarrhea or constipation. Other features may include poor heat tolerance and paroxysmal hypertension (Hernandez-Miranda et al., 2018). For a discussion of genetic heterogeneity of CCHS, see CCHS1 (209880).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794174">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1800259"><div><strong>Isolated anhidrosis with normal sweat glands</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800259</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.">C5568836</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated anhidrosis with normal sweat glands (ANHD) is characterized by absence of perspiration and subsequent heat intolerance with normal morphology and number of sweat glands. Teeth, hair, nails, and skin are normal (Klar et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1800259">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840225"><div><strong>Intellectual developmental disorder, X-linked 112</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840225</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.">C5829589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked intellectual disorder-112 (XLID112) is a neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Affected females have been reported, which appears to be related to skewed X-inactivation (summary by Hiatt et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840225">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1863149"><div><strong>Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863149</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.">C5935585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities (NEDMSB) is a severe autosomal recessive disorder characterized by failure to thrive in infancy, global developmental delay, hypotonia, motor abnormalities with inability to walk, involuntary movements, impaired intellectual development, absent speech, seizures, and structural brain abnormalities (Alkhater et al., 2018; Dafsari et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1863149">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761665" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive congenital ichthyosis 3</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiofaciocutaneous syndrome 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiofaciocutaneous syndrome 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central hypoventilation syndrome, congenital, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to ORAI1 deficiency</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854747" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854356" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia and immunodeficiency 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia-syndactyly syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1621482" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">HELIX syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_57890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypohidrotic X-linked ectodermal dysplasia</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, X-linked 112</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800259" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated anhidrosis with normal sweat glands</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Naegeli-Franceschetti-Jadassohn syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1863149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339994" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phelan-McDermid syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410143" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tooth agenesis, selective, X-linked, 1</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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/38692780">Autonomic Dysfunction from Diagnosis to Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peltier AC</span><br />
|
||
<span class="medgenPMjournal">Prim Care</span>
|
||
2024 Jun;51(2):359-373.
|
||
Epub 2024 Mar 20
|
||
doi: 10.1016/j.pop.2024.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38692780" target="_blank">38692780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31939530">Fabry disease: genetics, pathology, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernardes TP,
|
||
Foresto RD,
|
||
Kirsztajn GM</span><br />
|
||
<span class="medgenPMjournal">Rev Assoc Med Bras (1992)</span>
|
||
2020 Jan 13;66Suppl 1(Suppl 1):s10-s16.
|
||
doi: 10.1590/1806-9282.66.S1.10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31939530" target="_blank">31939530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14610614">Management of the ichthyoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fleckman P</span><br />
|
||
<span class="medgenPMjournal">Skin Therapy Lett</span>
|
||
2003 Sep;8(6):3-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14610614" target="_blank">14610614</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22heat%20intolerance%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 (11)</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/37847271">Hyperthyroidism: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SY,
|
||
Pearce EN</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Oct 17;330(15):1472-1483.
|
||
doi: 10.1001/jama.2023.19052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37847271" target="_blank">37847271</a><a href="/pmc/articles/PMC10873132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36658199">Ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gutiérrez-Cerrajero C,
|
||
Sprecher E,
|
||
Paller AS,
|
||
Akiyama M,
|
||
Mazereeuw-Hautier J,
|
||
Hernández-Martín A,
|
||
González-Sarmiento R</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2023 Jan 19;9(1):2.
|
||
doi: 10.1038/s41572-022-00412-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36658199" target="_blank">36658199</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35985711">Update on Pediatric Hyperthyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaidyanathan P</span><br />
|
||
<span class="medgenPMjournal">Adv Pediatr</span>
|
||
2022 Aug;69(1):219-229.
|
||
Epub 2022 Jun 20
|
||
doi: 10.1016/j.yapd.2022.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35985711" target="_blank">35985711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32906168">Sudomotor Dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheshire WP</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2020 Oct;40(5):560-568.
|
||
Epub 2020 Sep 9
|
||
doi: 10.1055/s-0040-1713847.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32906168" target="_blank">32906168</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23124125">The use of focus groups to characterize symptoms in persons with multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newland PK,
|
||
Thomas FP,
|
||
Riley M,
|
||
Flick LH,
|
||
Fearing A</span><br />
|
||
<span class="medgenPMjournal">J Neurosci Nurs</span>
|
||
2012 Dec;44(6):351-7.
|
||
doi: 10.1097/JNN.0b013e318268308b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23124125" target="_blank">23124125</a><a href="/pmc/articles/PMC3491575" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heat%20intolerance%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 (89)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37847271">Hyperthyroidism: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SY,
|
||
Pearce EN</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Oct 17;330(15):1472-1483.
|
||
doi: 10.1001/jama.2023.19052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37847271" target="_blank">37847271</a><a href="/pmc/articles/PMC10873132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36658199">Ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gutiérrez-Cerrajero C,
|
||
Sprecher E,
|
||
Paller AS,
|
||
Akiyama M,
|
||
Mazereeuw-Hautier J,
|
||
Hernández-Martín A,
|
||
González-Sarmiento R</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2023 Jan 19;9(1):2.
|
||
doi: 10.1038/s41572-022-00412-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36658199" target="_blank">36658199</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35985711">Update on Pediatric Hyperthyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaidyanathan P</span><br />
|
||
<span class="medgenPMjournal">Adv Pediatr</span>
|
||
2022 Aug;69(1):219-229.
|
||
Epub 2022 Jun 20
|
||
doi: 10.1016/j.yapd.2022.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35985711" target="_blank">35985711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35012815">Segmental anhidrosis and heat intolerance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lacombe V,
|
||
Le Clec'h C</span><br />
|
||
<span class="medgenPMjournal">Eur J Intern Med</span>
|
||
2022 Mar;97:95-96.
|
||
Epub 2022 Jan 7
|
||
doi: 10.1016/j.ejim.2022.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35012815" target="_blank">35012815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1324036">Fabry's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kato H,
|
||
Sato K,
|
||
Hattori S,
|
||
Ikemoto S,
|
||
Shimizu M,
|
||
Isogai Y</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
1992 May;31(5):682-5.
|
||
doi: 10.2169/internalmedicine.31.682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1324036" target="_blank">1324036</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heat%20intolerance%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 (114)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37847271">Hyperthyroidism: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SY,
|
||
Pearce EN</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Oct 17;330(15):1472-1483.
|
||
doi: 10.1001/jama.2023.19052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37847271" target="_blank">37847271</a><a href="/pmc/articles/PMC10873132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35985711">Update on Pediatric Hyperthyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaidyanathan P</span><br />
|
||
<span class="medgenPMjournal">Adv Pediatr</span>
|
||
2022 Aug;69(1):219-229.
|
||
Epub 2022 Jun 20
|
||
doi: 10.1016/j.yapd.2022.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35985711" target="_blank">35985711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35235281">Thyroid and Parathyroid Conditions: Hyperthyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rhodes MA,
|
||
Adams CS,
|
||
Bragg S,
|
||
Christian N</span><br />
|
||
<span class="medgenPMjournal">FP Essent</span>
|
||
2022 Mar;514:11-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35235281" target="_blank">35235281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14610614">Management of the ichthyoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fleckman P</span><br />
|
||
<span class="medgenPMjournal">Skin Therapy Lett</span>
|
||
2003 Sep;8(6):3-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14610614" target="_blank">14610614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12823583">Transient hypohidrosis induced by topiramate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Carolis P,
|
||
Magnifico F,
|
||
Pierangeli G,
|
||
Rinaldi R,
|
||
Galeotti M,
|
||
Cevoli S,
|
||
Cortelli P</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2003 Jul;44(7):974-6.
|
||
doi: 10.1046/j.1528-1157.2003.40702.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12823583" target="_blank">12823583</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heat%20intolerance%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 (84)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36658199">Ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gutiérrez-Cerrajero C,
|
||
Sprecher E,
|
||
Paller AS,
|
||
Akiyama M,
|
||
Mazereeuw-Hautier J,
|
||
Hernández-Martín A,
|
||
González-Sarmiento R</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2023 Jan 19;9(1):2.
|
||
doi: 10.1038/s41572-022-00412-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36658199" target="_blank">36658199</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36623995">Biomarkers for warfighter safety and performance in hot and cold environments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JKW,
|
||
Tan B,
|
||
Kingma BRM,
|
||
Haman F,
|
||
Epstein Y</span><br />
|
||
<span class="medgenPMjournal">J Sci Med Sport</span>
|
||
2023 Jun;26 Suppl 1:S71-S78.
|
||
Epub 2022 Dec 23
|
||
doi: 10.1016/j.jsams.2022.12.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36623995" target="_blank">36623995</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31939530">Fabry disease: genetics, pathology, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernardes TP,
|
||
Foresto RD,
|
||
Kirsztajn GM</span><br />
|
||
<span class="medgenPMjournal">Rev Assoc Med Bras (1992)</span>
|
||
2020 Jan 13;66Suppl 1(Suppl 1):s10-s16.
|
||
doi: 10.1590/1806-9282.66.S1.10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31939530" target="_blank">31939530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20926467">Clinical biochemistry of hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hashim IA</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Biochem</span>
|
||
2010 Nov;47(Pt 6):516-23.
|
||
Epub 2010 Oct 6
|
||
doi: 10.1258/acb.2010.010186.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20926467" target="_blank">20926467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9848003">Autonomic neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Low PA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
1998 Oct;11(5):531-7.
|
||
doi: 10.1097/00019052-199810000-00016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9848003" target="_blank">9848003</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heat%20intolerance%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 (51)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37847271">Hyperthyroidism: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SY,
|
||
Pearce EN</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Oct 17;330(15):1472-1483.
|
||
doi: 10.1001/jama.2023.19052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37847271" target="_blank">37847271</a><a href="/pmc/articles/PMC10873132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36658199">Ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gutiérrez-Cerrajero C,
|
||
Sprecher E,
|
||
Paller AS,
|
||
Akiyama M,
|
||
Mazereeuw-Hautier J,
|
||
Hernández-Martín A,
|
||
González-Sarmiento R</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2023 Jan 19;9(1):2.
|
||
doi: 10.1038/s41572-022-00412-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36658199" target="_blank">36658199</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36031202">Firefighter salivary cortisol responses following rapid heat stress.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coehoorn CJ,
|
||
Neary JP,
|
||
Krigolson OE,
|
||
Service TW,
|
||
Stuart-Hill LA</span><br />
|
||
<span class="medgenPMjournal">J Therm Biol</span>
|
||
2022 Aug;108:103305.
|
||
Epub 2022 Aug 7
|
||
doi: 10.1016/j.jtherbio.2022.103305.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36031202" target="_blank">36031202</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30459034">Thermoregulatory dysfunction in multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SL,
|
||
Jay O,
|
||
Wilson TE</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;157:701-714.
|
||
doi: 10.1016/B978-0-444-64074-1.00042-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30459034" target="_blank">30459034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1324036">Fabry's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kato H,
|
||
Sato K,
|
||
Hattori S,
|
||
Ikemoto S,
|
||
Shimizu M,
|
||
Isogai Y</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
1992 May;31(5):682-5.
|
||
doi: 10.2169/internalmedicine.31.682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1324036" target="_blank">1324036</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heat%20intolerance%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 (57)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/32265238">Systematic review of gender differences in the epidemiology and risk factors of exertional heat illness and heat tolerance in the armed forces.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alele F,
|
||
Malau-Aduli B,
|
||
Malau-Aduli A,
|
||
Crowe M</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
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2020 Apr 6;10(4):e031825.
|
||
doi: 10.1136/bmjopen-2019-031825.
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<span class="bold">PMID: </span><a href="/pubmed/32265238" target="_blank">32265238</a><a href="/pmc/articles/PMC7245403" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17443591">Chinese herbal medicines for hyperthyroidism.</a></div>
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Yuan Y,
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Liu Y,
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Wu TX,
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Han S</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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||
2007 Apr 18;2007(2):CD005450.
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doi: 10.1002/14651858.CD005450.pub2.
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<span class="bold">PMID: </span><a href="/pubmed/17443591" target="_blank">17443591</a><a href="/pmc/articles/PMC6544778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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