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14 Possible Causes for Mutation in the ADNP Gene

  • Autosomal Dominant Mental Retardation 28

    Helsmoortel-Van der Aa syndrome is a condition caused by mutations in the activity-dependent neuroprotector homeobox (ADNP) gene.[en.wikipedia.org] 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] Gene De Novo Mutation, Journal of Molecular Neuroscience, 10.1007/s12031-019-01333-9, (2019).[doi.org]

  • 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]

  • 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]

  • 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]

  • Microdeletion 3q29 Syndrome

    […] neuro-developmental genetic disorder caused by a change (mutation or partial deletion) in the ADNP gene.[geneticdisordersuk.org] Most cases in families are from a new mutation but in a few cases it is inherited ADNP Syndrome ADNP syndrome, also known as Helsmoortel-VanDerAa syndrome (HVDAS) is a complex[geneticdisordersuk.org]

  • 22q11.2 Duplication Syndrome

    […] neuro-developmental genetic disorder caused by a change (mutation or partial deletion) in the ADNP gene.[geneticdisordersuk.org] Most cases in families are from a new mutation but in a few cases it is inherited ADNP Syndrome ADNP syndrome, also known as Helsmoortel-VanDerAa syndrome (HVDAS) is a complex[geneticdisordersuk.org]

  • KID Syndrome

    Syndrome is caused by a heterozygous de novo mutation in the ADNP gene on chromosome 20q13.[adnpkids.com] UNIQUE BIOMARKER When the ADNP gene is mutated, a recent study has found that a substantial amount of the children have/had "early tooth eruption".[adnpfoundation.org] […] the ADNP (Activity Dependent Neuroprotective Protein) gene.[adnpkids.com]

  • Braddock-Carey Syndrome

    Am J Med Genet A (2017) 0.75 Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.[pubrank.carbocation.com] Horm Res Paediatr (2017) 0.75 A Novel SCN5A Mutation Found in a Familial Case of Long QT Syndrome Complicated by Severe Left Ventricular Dysfunction.[pubrank.carbocation.com]

  • Coffin-Siris Syndrome

    Also, ADNP was found to be mutated in an autism/ID syndrome.[ncbi.nlm.nih.gov] A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP . Nat. Genet. 46 , 380–384 (2014). 62. Bernier, R. et al.[nature.com] Mutations in another BAF complex gene (SMARCA2) and (TBC1D24) were found to cause clinically similar conditions with ID, Nicolaides-Baraitser syndrome and DOORS syndrome,[ncbi.nlm.nih.gov]

  • Lethal Muscular Hypertonia

    […] in ADNP gene.[j-neurooncology.imedpub.com] Piekutowska-Abramczuk D, Kucharczyk M, Chrzanowska KH, et al. (2016) Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation[j-neurooncology.imedpub.com]

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