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42 Possible Causes for Mutation in the EIF2AK3 Gene, Onset of Diabetes in Neonatal Period or Early Infancy, Onset of Renal Dysfunction in Early Childhood

  • Wolcott-Rallison Syndrome

    Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy.[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

    Abstract BACKGROUND: Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy.[ncbi.nlm.nih.gov] A homozygous mutation in EIF2AK3 gene confirmed the clinical diagnosis of WRS. She was euthyroid on L -thyroxine therapy.[abstracts.eurospe.org] A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid.[ncbi.nlm.nih.gov]

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

    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] NEUROD1, IER3IP1, MNX1, NEUROG3, NKX2-2, RFX6, GLIS3, PTF1A, PDX1 ), recessively inherited mutations in the EIF2AK3 gene, which cause Wolcott-Rallison syndrome, are the most[diapedia.org] Other rare causes of NDM include mutations in genes encoding transporters such as glucose transporter (GLUT)2 and thiamine transporter (see Table 1 ).[dovepress.com]

    Missing: Onset of Diabetes in Neonatal Period or Early Infancy Onset of Renal Dysfunction in Early Childhood
  • Double Outlet Right Ventricle

    Genetic examination showed classic mutations in the EIF2AK3 gene - eukaryotic translation initiation factor 2α kinase 3.[ncbi.nlm.nih.gov]

    Missing: Onset of Diabetes in Neonatal Period or Early Infancy Onset of Renal Dysfunction in Early Childhood
  • Progressive Supranuclear Palsy

    Some cases of PSP are linked to a mutation or genetic variation in the gene MAPT, which helps to produce (codes for) the tau protein.[rarediseases.org] Variants of least three other genes ( STX6, EIF2AK3, and MOBP ) are associated with an increased the risk of developing PSP.[rarediseases.org]

    Missing: Onset of Diabetes in Neonatal Period or Early Infancy Onset of Renal Dysfunction in Early Childhood
  • Laron Syndrome with Immunodeficiency

    In CentoMD , the world’s largest mutation database for rare diseases.[centogene.com] CENTOGENE has identified genetic variants associated with nephrological diseases in more than 240 different genes.[centogene.com] […] disease CRB2 Vesicoureteral reflux type 2 ROBO2 Vesicoureteral reflux type 3 SOX17 Wilms tumor type 1, familial WT1 Wilson-Turner syndrome LAS1L Wolcott-Rallison syndrome EIF2AK3[centogene.com]

    Missing: Onset of Diabetes in Neonatal Period or Early Infancy Onset of Renal Dysfunction in Early Childhood
  • Cystic Kidney Disease

    In CentoMD , the world’s largest mutation database for rare diseases.[centogene.com] CENTOGENE has identified genetic variants associated with nephrological diseases in more than 240 different genes.[centogene.com] Ventriculomegaly with cystic kidney disease CRB2 Vesicoureteral reflux type 2 ROBO2 Vesicoureteral reflux type 3 SOX17 Wilms tumor type 1, familial WT1 Wolcott-Rallison syndrome EIF2AK3[centogene.com]

    Missing: Onset of Diabetes in Neonatal Period or Early Infancy Onset of Renal Dysfunction in Early Childhood
  • Classic Progressive Supranuclear Palsy Syndrome

    Some cases of PSP are linked to a mutation or genetic variation in the gene MAPT, which helps to produce (codes for) the tau protein.[rarediseases.org] Variants of least three other genes ( STX6, EIF2AK3, and MOBP ) are associated with an increased the risk of developing PSP.[rarediseases.org]

    Missing: Onset of Diabetes in Neonatal Period or Early Infancy Onset of Renal Dysfunction in Early Childhood
  • Amaurosis-Hypertrichosis Syndrome

    Types 1 and 2 have been distinguished, with the latter more common and severe, with onset in the neonatal period or in early infancy [ 47 ].[link.springer.com] Lipoatrophic diabetes and generalized congenital hypertrichosis are the main features of the syndrome.[link.springer.com]

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

    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] […] friend Rik Bennett who is running the London Marathon to raise money for Millie, is almost blind, nearly deaf and has severe kidney problems The earliest symptoms include childhood[dailymail.co.uk]

    Missing: Mutation in the EIF2AK3 Gene Onset of Diabetes in Neonatal Period or Early Infancy