Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.770 GeneticVariation disease BEFREE Truncating de novo mutations in ADNP have been identified in patients with the Helsmoortel-Van der Aa syndrome. 29911927 2018
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.770 GeneticVariation disease BEFREE De novo mutations in ADNP, which encodes activity-dependent neuroprotective protein (ADNP), have recently been found to underlie Helsmoortel-Van der Aa syndrome, a complex neurological developmental disorder that also affects several other organ functions <sup>1</sup> . 29795351 2018
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.770 GeneticVariation disease BEFREE Furthermore, the present patients could support the inclusion of the HVDAS associated with specific mutations clustering within a small ADNP genomic region among clinical conditions reminiscent of the blepharophimosis/mental retardation syndromes (BMRS). 29475819 2018
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.770 Biomarker disease BEFREE Our report thus confirms that ADNP haploinsufficiency is associated with Helsmoortel-van der Aa syndrome as well as highlights the utility of whole-genome array-CGH for detection of unbalanced submicroscopic chromosomal rearrangements in routine clinical setting in patients with unexplained intellectual disability and/or syndromic autism. 29899371 2018
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.770 GeneticVariation disease BEFREE ADNP key functions extend from mice to men, with mutations causing ADNP-related ID/autism syndrome, also known as the Helsmoortel-Van der Aa syndrome. 27870441 2017
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.770 AlteredExpression disease BEFREE Despite the lack of prenatally described cases, we hypothesized that maldevelopment of lateral brain ventriculomegaly could be very early sonographic sign of disturbed ADNP expression causing Helsmoortel-Van der Aa syndrome, but in some extent also of KCNB1 related early-onset epileptic encephalopathy. 28807863 2017
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.770 GeneticVariation disease BEFREE Heterozygous truncating mutations in ADNP are associated with a syndromic form of intellectual disability known as Helsmoortel-van der Aa syndrome. 28407407 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE We show that individuals with mutations in ADNP have many overlapping clinical features that are distinctive from those of other autism and/or intellectual disability syndromes. 29724491 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Overlapping all tested brain areas identified unique and shared mutations, with ADNP singled out as a gene associated with autism/ID/AD and presenting several unique aging/AD mutations. 31664177 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE These findings tie for the first time a reduction in presynaptic glutamatergic synapses with the autism/Alzheimer's/schizophrenia-linked ADNP deficiency coupled with amelioration by NAP (CP201). 30664622 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Activity-dependent neuroprotective protein (ADNP), discovered and first characterized in our laboratory (IG), is vital for mammalian brain formation and presents one of the leading genes mutated de novo causing an autistic syndrome, namely the ADNP syndrome. 31534115 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Disruptions to the ADNP gene (i.e., ADNP syndrome) have been associated with autism spectrum disorder (ASD). 30107084 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Our report thus confirms that ADNP haploinsufficiency is associated with Helsmoortel-van der Aa syndrome as well as highlights the utility of whole-genome array-CGH for detection of unbalanced submicroscopic chromosomal rearrangements in routine clinical setting in patients with unexplained intellectual disability and/or syndromic autism. 29899371 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE We hypothesized that mutations in ADNP lead to a developmental/autistic syndrome in children. 30106381 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Activity-dependent neuroprotective protein (ADNP), vital for brain formation and cognitive function, is mutated in autism and linked to neurodegenerative/psychiatric diseases. 28115743 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Sexual divergence in activity-dependent neuroprotective protein impacting autism, schizophrenia, and Alzheimer's disease. 27870441 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE ADNP Plays a Key Role in Autophagy: From Autism to Schizophrenia and Alzheimer's Disease. 28940660 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE The cytoskeleton as a drug target for neuroprotection: the case of the autism- mutated ADNP. 25955282 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE ADNP is discovered here as unique to chordata with specific autism mutations different from cancer-associated mutation. 25428252 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Also, ADNP was found to be mutated in an autism/ID syndrome. 25169878 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 AlteredExpression disease BEFREE The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. 25169753 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.360 Biomarker disease BEFREE Peripheral ADNP was also discovered as a biomarker for Alzheimer's disease and schizophrenia, with nasal administration of the ADNP snippet peptide NAP (enhancing endogenous ADNP activity) leading to partial cognitive and functional protection at the cellular, animal and clinical settings. 30664622 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.360 AlteredExpression disease BEFREE However, we found that blood ADNP mRNA levels were significantly increased in the patients with SCZ when compared with controls. 30172685 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.360 Biomarker disease BEFREE It is important to note that ADNP is sexually regulated in the brains of birds, mice, and men and in lymphocytes of patients suffering from schizophrenia. 27870441 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.360 Biomarker disease BEFREE One of the most important cellular processes associated with ADNP is the autophagy pathway, recently discovered by us as a key player in the pathophysiology of schizophrenia. 28940660 2017