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50 Possible Causes for Hypoplasia of Dentate Nucleus, Multiperforated Patent Foramen Ovale, Mutation in the EIF2AK3 Gene

  • Wolcott-Rallison Syndrome

    nucleus NO Elbow dislocation NO Hypoplasia of the capital femoral epiphysis NO Exercise-induced muscle cramps NO Recurrent patellar dislocation NO Short middle phalanx of[playground.phenotips.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] We described two novel mutations in the EIF2AK3 gene in two consanguineous families with WRS from Brazil and Morocco.[ncbi.nlm.nih.gov]

    Missing: Multiperforated Patent Foramen Ovale
  • Adams-Oliver Syndrome Type 5

    @article{Papadopoulou2008AntenatalAP, title {Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndrome.}, author {Eleftheria Papadopoulou and Stavros Sifakis and Maria Raissaki and Ioannis Germanakis and Maria Kalmanti}, journal {American[…][semanticscholar.org]

    Missing: Mutation in the EIF2AK3 Gene
  • 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: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • 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: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • 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: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Atrial Septal Aneurysm

    ASA is considered a risk factor for cardioembolism, especially in association with patent foramen ovale.[ncbi.nlm.nih.gov] […] atrial septal aneurysm. ( 25553942 ) Ortiz C....Ramos B. 2015 12 Transient cerebral ischemia in an elderly patient with patent foramen ovale and atrial septal aneurysm. ([malacards.org] A meticulous search for interatrial shunting (most often patent foramen ovale (PFO)) and associated cardiac diseases is important.[ncbi.nlm.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Mutation in the EIF2AK3 Gene
  • 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: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • 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: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • 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: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • 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: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale