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3,802 Possible Causes for Failure to Thrive, Mutation in the EIF2AK3 Gene, Onset of Renal Dysfunction in Early Childhood

  • Wolcott-Rallison Syndrome

    Clinical follow up of the affected individuals shows that in at least some of them, PNDM was associated with short stature, failure to thrive, neurodevelopmental delay, epilepsy[ncbi.nlm.nih.gov] Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome.[en.wikipedia.org] Mutations in the EIF2AK3 gene have been identified in patients with Wolcott-Rallison syndrome - a rare autosomal recessive disorder associated with permanent neonatal insulin-dependent[ncbi.nlm.nih.gov]

  • Hypoaldosteronism

    We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia.[ncbi.nlm.nih.gov] A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid.[ncbi.nlm.nih.gov] All presented in infancy with failure to thrive, hyponatremia, hyperkalemia, markedly elevated plasma renin activity, and low or inappropriately normal aldosterone levels.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • DEND Syndrome

    Brief resolved unexplained event -- BRUE (Medical Encyclopedia) Crying - excessive (0-6 months) (Medical Encyclopedia) Failure to thrive (Medical Encyclopedia) Hemorrhagic[icdlist.com] NEUROD1, IER3IP1, NEUROG3, NKX2-2 ), recessively inherited mutations in the EIF2AK3 gene, which cause Wolcott Rallison Syndrome, are the most common cause of PNDM in consanguineous[diapedia.org] Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy.[resourcerepository.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Esophagitis

    It presents with failure to thrive, nausea, and vomiting in children and is a common reason for dysphagia and food impaction in adults.[ncbi.nlm.nih.gov] Dysphagia Chest or upper abdominal pain Food stuck in the esophagus Heartburn that doesn’t respond to medication Regurgitation In children: vomiting, poor weight gain or failure[nm.org] In infants, this disease may be associated with failure to thrive. In some situations, avoiding certain food allergens will be an effective treatment for EoE.[aarda.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Double Outlet Right Ventricle

    These infants may also have difficulties breathing as well as poor feeding and a general failure to thrive.[news-medical.net] Genetic examination showed classic mutations in the EIF2AK3 gene - eukaryotic translation initiation factor 2α kinase 3.[ncbi.nlm.nih.gov] Your child may have symptoms like these: Bluish skin, lips or nailbeds (cyanosis) or pale skin Trouble feeding Failure to thrive Fast breathing or working hard to breathe[seattlechildrens.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Laron Syndrome with Immunodeficiency

    Recurrent infections may interfere with the general development of the child and provoke failure to thrive.[symptoma.com] In CentoMD , the world’s largest mutation database for rare diseases.[centogene.com] Failure to thrive: a practical guide. Am Fam Physician. 2016;94:295-9. [ Links ] 13 Rezaei N, Vries ED, Gambineri E, Haddad E.[scielo.br]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Growth Failure

    Presentation on theme: "Faltering growth(failure to thrive)"— Presentation transcript: 1 Faltering growth(failure to thrive) refers to not only failure of growth(suboptimal[slideplayer.com] Failure to thrive has many possible causes. In some cases, more than one thing may cause it. A baby or child may not be taking in enough nutrients and calories.[childrensnational.org] What is Failure to Thrive (FTT)? Failure to thrive (FTT) is a term that is traditionally used for children who have failed to develop and grow normally.[nationwidechildrens.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Transient Neonatal Diabetes Mellitus

    We present a case of an 8-day-old infant boy with transient neonatal diabetes mellitus who presented to our emergency department with profound dehydration, failure to thrive[ncbi.nlm.nih.gov] The skeletal findings may develop later, however, and this condition is the result of mutations in EIF2AK3 at 2p12. 37 This gene is highly expressed in islet cells acting[jmg.bmj.com] Abstract Transient neonatal diabetes mellitus (TNDM) is a rare condition which presents with intrauterine growth retardation, dehydration, and failure to thrive.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Vitamin B12 Deficiency

    When preventive supplementation has failed, one should recognize and treat quickly an infant presenting with failure to thrive and delayed development.[ncbi.nlm.nih.gov] Vitamin B12 deficiency is rare in children, with nonspecific symptoms including failure to thrive, vomiting, anorexia, and neurologic changes with or without hematologic disturbances[ncbi.nlm.nih.gov] Three months later, developmental regression and failure to thrive led to the diagnosis of vitB(12) deficiency, as a consequence of a subclinical pernicious anaemia with vitB[ncbi.nlm.nih.gov]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Erythroderma Desquamativum

    Blogs Submit your blog on Generalized Erythroderma, Diarrhea, And Failure To Thrive to be featured![novusbio.com] […] to thrive.[malacards.org] From Wikidata Jump to navigation Jump to search disease Erythroderma desquamativum Generalized erythroderma, diarrhea, and failure to thrive Erythroderma desquamativa of Leiner[wikidata.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood

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