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2,220 Possible Causes for Mutation in the EIF2AK3 Gene, Onset of Renal Dysfunction in Early Childhood, Polydactyly

  • Wolcott-Rallison Syndrome

    Short rib-polydactyly syndrome: more evidence of a continuous spectrum.[link.springer.com] 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]

  • Alstrom Syndrome

    […] childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly[ncbi.nlm.nih.gov] Sufferers often develop early-onset type 2 diabetes, renal and hepatic dysfunction affecting the liver and kidneys, bladder and bowel problems, and cardiomyopathy, where the[dailymail.co.uk] Differential diagnosis [ 2 ] Bardet-Biedl syndrome is similar (with retinitis pigmentosa, deafness, obesity and diabetes mellitus) but also includes mental defect, polydactyly[patient.info]

    Missing: Mutation in the EIF2AK3 Gene
  • Cystic Kidney Disease

    Keywords: Meckel-Gruber syndrome, occipital encephalocele, polycystic kidney, polydactyly How to cite this article: Panduranga C, Kangle R, Badami R, Patil PV.[ruralneuropractice.com] In CentoMD , the world’s largest mutation database for rare diseases.[centogene.com] The main features are encephalocoele, polycystic kidneys, polydactyly and fibrosis with ductular proliferation in the liver.[link.springer.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Multiple Epiphyseal Dysplasia Type Al-Gazali

    Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet."[manteia.igbmc.fr] The result of the genetic testing reports a homozygous EIF2AK3 gene mutation in the patient and heterozygous mutation in both parents.[rmsjournal.org] Hallux duplication, postaxial Polydactyly, absence of corpus callosum, severe mental retardation and additional anomalies in two unrelated patients: a new syndrome.[journals.sbmu.ac.ir]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 GMPPB Limb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital[genda.com.ar] This was the case for one of our samples, in which a complete clinical definition allowed us to identify a pathogenic mutation in the EIF2AK3 gene, with a depth of coverage[journals.plos.org] Polydactyly; SRTD2 OMIM:613091 Short-Rib Thoracic Dysplasia 3 with or without Polydactyly; SRTD3 OMIM:613819 Short-Rib Thoracic Dysplasia 4 with or without Polydactyly; SRTD4[informatics.jax.org]

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

    Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[ncbi.nlm.nih.gov] Cleft lip/palate, micro- or anophthalmia, coloboma (even in the absence of major brain malformations), regions of occipital cutaneous aplasia, postaxial polydactyly, cardiac[orpha.net] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[icd9data.com]

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

    The two siblings showed signs of RP and polydactyly.[ncbi.nlm.nih.gov] […] are more likely to develop symptoms of RP earlier than those diagnosed with type two Laurence-Moon-Bardet-Beidl Syndrome – the symptoms of this syndrome can include RP, polydactyly[svrc.vic.edu.au] Short stature, renal dysfunction, and polydactyly are some signs of Bardet-Biedl syndrome or Laurence-Moon syndrome when associated with pigmentary retinopathy.[patient.info]

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

    The present review is aimed at providing an overview of skin cancer with particular focus on occupational concern and giving evidence-based recommendation for effective prevention at workplace. We performed a systematic search of literature using PubMed and the Cochrane Library. Outcome of preventive strategies[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Pallister-Hall Syndrome

    Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de Abstract We present a preterm-born girl with polydactyly[ncbi.nlm.nih.gov] Polydactyly. Postaxial polydactyly may be more common than mesoaxial polydactyly in individuals with PHS.[ncbi.nlm.nih.gov] Wikidata Jump to navigation Jump to search Human disease Pallister-Hall syndrome (disorder) Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly[wikidata.org]

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

    Complications Complications related to polydactyly is associated with the surgical intervention for managing polydactyly.[symptoma.com] What is polydactyly?[web.archive.org] When unilateral, ulnar polydactyly occurred more often on the left side.[ncbi.nlm.nih.gov]

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

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