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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.[] Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome.[] 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[]

  • Alstrom Syndrome

    […] childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly[] 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[] Differential diagnosis [ 2 ] Bardet-Biedl syndrome is similar (with retinitis pigmentosa, deafness, obesity and diabetes mellitus) but also includes mental defect, polydactyly[]

    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.[] In CentoMD , the world’s largest mutation database for rare diseases.[] The main features are encephalocoele, polycystic kidneys, polydactyly and fibrosis with ductular proliferation in the liver.[]

    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."[] The result of the genetic testing reports a homozygous EIF2AK3 gene mutation in the patient and heterozygous mutation in both parents.[] Hallux duplication, postaxial Polydactyly, absence of corpus callosum, severe mental retardation and additional anomalies in two unrelated patients: a new syndrome.[]

    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[] 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[] 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[]

    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[] Cleft lip/palate, micro- or anophthalmia, coloboma (even in the absence of major brain malformations), regions of occipital cutaneous aplasia, postaxial polydactyly, cardiac[] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[]

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

    The two siblings showed signs of RP and polydactyly.[] […] 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[] Short stature, renal dysfunction, and polydactyly are some signs of Bardet-Biedl syndrome or Laurence-Moon syndrome when associated with pigmentary retinopathy.[]

    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[…][]

    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. Abstract We present a preterm-born girl with polydactyly[] Polydactyly. Postaxial polydactyly may be more common than mesoaxial polydactyly in individuals with PHS.[] Wikidata Jump to navigation Jump to search Human disease Pallister-Hall syndrome (disorder) Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly[]

    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.[] What is polydactyly?[] When unilateral, ulnar polydactyly occurred more often on the left side.[]

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

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