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39 Possible Causes for Mutation in the EIF2AK3 Gene, Onset of Renal Dysfunction in Early Childhood, Small Irregular Tarsal Centers

  • Wolcott-Rallison Syndrome

    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] Diagnosis Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome. [1] The other symptoms include[wikiwand.com]

  • Hypoaldosteronism

    A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid.[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]

    Missing: Onset of Renal Dysfunction in Early Childhood Small Irregular Tarsal Centers
  • 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 Renal Dysfunction in Early Childhood Small Irregular Tarsal Centers
  • 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 Renal Dysfunction in Early Childhood Small Irregular Tarsal Centers
  • 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 Renal Dysfunction in Early Childhood Small Irregular Tarsal Centers
  • 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 Renal Dysfunction in Early Childhood Small Irregular Tarsal Centers
  • 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 Renal Dysfunction in Early Childhood Small Irregular Tarsal Centers
  • 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 Renal Dysfunction in Early Childhood Small Irregular Tarsal Centers
  • 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 Small Irregular Tarsal Centers
  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    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]

    Missing: Onset of Renal Dysfunction in Early Childhood Small Irregular Tarsal Centers