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

  • Helsmoortel-van der Aa Syndrome

    Helsmoortel-Van der Aa syndrome is a condition caused by mutations in the activity-dependent neuroprotector homeobox (ADNP) gene.[en.wikipedia.org] The causative gene in SCA21, TMEM240, is highly expressed in the cerebellum, dentate gyrus, putamen and caudate nucleus.[pediatricneurologybriefs.com] In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent[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 ADNP Gene
  • Premature Tooth Eruption

    The researchers found that mice with an ADNP mutation had tooth irregularities, suggesting that the ADNP gene affects bone maintenance.[iancommunity.org] , they discovered that ADNP mutations are associated with dysregulation of bone related genes.[adnpfoundation.org] […] to their ADNP gene got almost all of their baby teeth by age 1, which is unusually early.[iancommunity.org]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Blepharophimosis

    […] in the ADNP gene. ( 28407407 ) Takenouchi T....Kosaki K. 2017 13 Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus[malacards.org] […] arthrogryposis, and multiple congenital abnormalities. ( 28815864 ) 2017 12 Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation[malacards.org]

    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 ADNP Gene
  • Isolated Congenital Sclerocornea

    ., ADNP Consortium 2019 ; 85 (4) : 28797 Abstract In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP[stanfordchildrens.org] ., ADNP Consortium 2019 ; 85 (4) : 287–97 Abstract In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP[profiles.stanford.edu] ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple[stanfordchildrens.org]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • 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] Musculoskeletal Exercise-induced muscle fatigue NO Amelogenesis imperfecta NO Adducted thumb NO Joint laxity NO Calcaneovalgus deformity NO Dense calcifications in the cerebellar dentate[playground.phenotips.org]

    Missing: Multiperforated Patent Foramen Ovale Mutation in the ADNP Gene
  • Malpuech Syndrome

    […] in the ADNP gene (611386) on chromosome 20q13.Helsmoortel et al. (2014) reported 10 unrelated children with intellectual disability, autism spectrum disorder, and dysmorphic[findzebra.com] […] in the activity-dependent neuroprotector homeobox gene (ADNP, 611386.0001) This disease is described under Rhizomelic chondrodysplasia punctata Clinical features Tutuncuoglu[findzebra.com] […] behavior; Stereotypic behavior; Hyperactivity IMMUNOLOGY: Recurrent infections MISCELLANEOUS: Onset in infancy; Variable extraneurologic features MOLECULAR BASIS: Caused by mutation[findzebra.com]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Friedreich Ataxia

    The neuropathology was also similar and included hypoplasia of spinal cord and dorsal root ganglia, loss of large axons in dorsal roots, and atrophy of the dentate nucleus[ncbi.nlm.nih.gov]

    Missing: Multiperforated Patent Foramen Ovale Mutation in the ADNP Gene
  • Crossed Polysyndactyly

    Eunuchoid habitus Hypoplasia of the ovary Female hypogonadism Non-obstructive azoospermia Absence of pubertal development Phenotypic abnormality Abnormality of body height[mendelian.co] nucleus Hyperreflexia Optic atrophy Anteverted nares Blindness Glaucoma Photophobia Conductive hearing impairment Short foot Short palm Decreased testosterone in males Ataxia[mendelian.co] Lissencephaly Dysdiadochokinesis Global brain atrophy Thoracic kyphosis Dysmetria Abnormality of the neck Aplasia of the inferior half of the cerebellar vermis Atrophy of the dentate[mendelian.co]

    Missing: Multiperforated Patent Foramen Ovale Mutation in the ADNP Gene