The MISSION of The ADNP Kids Research Foundation (ADNP-KRF) is to advance the awareness and accelerate the treatment of ADNP Syndrome / Helsmoortel – Van Der Aa Syndrome (ADNP) by supporting research for treatments and drug development, increasing awareness and scientific understanding, promoting individualized specialty care and protocol, supporting families and providing information to help all individuals with ADNP realize their full potential and have a better quality of life.
We are a patient focused organization and have the largest collection of diagnosed patients worldwide, currently at 190.
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene. This important brain gene affects brain formation and development, as well as brain function and acts as protein-protecting nerve cells against electrical blockade. Recent studies identified ADNP as a regulator of axonal transport, dendritic spine plasticity and autophagy. The ADNP gene also affects many other organs and functions of the body.
Activity-dependent neuroprotective protein (ADNP) is a most frequent autism spectrum disorder (ASD)-associated gene and the only protein significantly decreasing in the serum of Alzheimer's disease (AD)
ADNP Syndrome/HVDAS can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. Developmentally, it can cause mild to severe delays in intelligence, speech and global motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.
ADNP Syndrome/HVDAS is estimated to affect 1 in 27,000 children the United States and Europe. To date, there are 151 ADNP Syndrome children diagnosed in our database (1.3% of the estimated worldwide prevalence). Males and females are both likely to be affected by this neuro-genetic disorder. (60% boys / 40% girls) However, the full extent of of ADNP Syndrome is unknown.
TESTING: There is currently no single gene test for ADNP Syndrome, however, ADNP has recently been placed into developmental and autism genetic panels at both GeneDx and Ambry Genetics.
WHAT IS ADNP SYNDROME?
Here we describe the syndrome, gene and phenotype symptoms.
ADNP SYNDROME,
ADNP GENE,
PHENOTYPE SYMPTOMSADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene. This important brain gene affects brain formation and development, as well as brain function and acts as protein-protecting nerve cells against electrical blockade. Recent studies identified ADNP as a regulator of axonal transport, dendritic spine plasticity and autophagy. The ADNP gene also affects many other organs and functions of the body.
Activity-dependent neuroprotective protein (ADNP) is a most frequent autism spectrum disorder (ASD)-associated gene and the only protein significantly decreasing in the serum of Alzheimer's disease (AD)
ADNP Syndrome/HVDAS can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. Developmentally, it can cause mild to severe delays in intelligence, speech and global motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.
ADNP Syndrome/HVDAS is estimated to affect 1 in 27,000 children the United States and Europe. To date, there are 151 ADNP Syndrome children diagnosed in our database (1.3% of the estimated worldwide prevalence). Males and females are both likely to be affected by this neuro-genetic disorder. (60% boys / 40% girls) However, the full extent of of ADNP Syndrome is unknown.
TESTING: There is currently no single gene test for ADNP Syndrome, however, ADNP has recently been placed into developmental and autism genetic panels at both GeneDx and Ambry Genetics.
We are a patient focused organization and have the largest collection of diagnosed patients worldwide, currently at 190.
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene. This important brain gene affects brain formation and development, as well as brain function and acts as protein-protecting nerve cells against electrical blockade. Recent studies identified ADNP as a regulator of axonal transport, dendritic spine plasticity and autophagy. The ADNP gene also affects many other organs and functions of the body.
Activity-dependent neuroprotective protein (ADNP) is a most frequent autism spectrum disorder (ASD)-associated gene and the only protein significantly decreasing in the serum of Alzheimer's disease (AD)
ADNP Syndrome/HVDAS can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. Developmentally, it can cause mild to severe delays in intelligence, speech and global motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.
ADNP Syndrome/HVDAS is estimated to affect 1 in 27,000 children the United States and Europe. To date, there are 151 ADNP Syndrome children diagnosed in our database (1.3% of the estimated worldwide prevalence). Males and females are both likely to be affected by this neuro-genetic disorder. (60% boys / 40% girls) However, the full extent of of ADNP Syndrome is unknown.
TESTING: There is currently no single gene test for ADNP Syndrome, however, ADNP has recently been placed into developmental and autism genetic panels at both GeneDx and Ambry Genetics.
WHAT IS ADNP SYNDROME?
Here we describe the syndrome, gene and phenotype symptoms.
ADNP SYNDROME,
ADNP GENE,
PHENOTYPE SYMPTOMSADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene. This important brain gene affects brain formation and development, as well as brain function and acts as protein-protecting nerve cells against electrical blockade. Recent studies identified ADNP as a regulator of axonal transport, dendritic spine plasticity and autophagy. The ADNP gene also affects many other organs and functions of the body.
Activity-dependent neuroprotective protein (ADNP) is a most frequent autism spectrum disorder (ASD)-associated gene and the only protein significantly decreasing in the serum of Alzheimer's disease (AD)
ADNP Syndrome/HVDAS can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. Developmentally, it can cause mild to severe delays in intelligence, speech and global motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.
ADNP Syndrome/HVDAS is estimated to affect 1 in 27,000 children the United States and Europe. To date, there are 151 ADNP Syndrome children diagnosed in our database (1.3% of the estimated worldwide prevalence). Males and females are both likely to be affected by this neuro-genetic disorder. (60% boys / 40% girls) However, the full extent of of ADNP Syndrome is unknown.
TESTING: There is currently no single gene test for ADNP Syndrome, however, ADNP has recently been placed into developmental and autism genetic panels at both GeneDx and Ambry Genetics.
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NAVIGATE Navigate collaboration between medical professionals, scientific researchers and families. |
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PROGRESS Progress toward improving the life of children living with this rare disease |
We are committed to finding those who can contribute and assist in researching new treatments, pharmaceuticals and gene therapy to help ADNP children reach their full potential and live a better life". Sandra Sermone, Founder & President, ADNP Kids Research Foundation
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