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Disease Profile
ADNP syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Infancy
ICD-10
Q87.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS; Helsmoortel-van der Aa Syndrome
Summary
ADNP
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Impaired social interactions |
Impaired social interaction
Poor social interactions
[ more ] |
0000735 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Urinary incontinence |
Loss of bladder control
|
0000020 |
30%-79% of people have these symptoms | ||
Abnormal temper tantrums | 0025160 | |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
Chronic constipation |
Infrequent bowel movements
|
0012450 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Moderate global |
0011343 | |
Obsessive-compulsive behavior |
Obsessive compulsive behavior
|
0000722 |
Oral-pharyngeal |
0200136 | |
Polyphagia |
Voracious appetite
|
0002591 |
Severe global developmental delay | 0011344 | |
5%-29% of people have these symptoms | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 |
Abnormality of cardiovascular system morphology | 0030680 | |
Abnormality of the nail | 0001597 | |
Advanced eruption of teeth |
Early eruption of teeth
|
0006288 |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
Aspiration | 0002835 | |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Bilateral |
Drooping of both upper eyelids
|
0001488 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Cerebral visual impairment | 0100704 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Focal white matter lesions | 0007042 | |
Gastrostomy tube feeding in infancy | 0011471 | |
High anterior hairline |
High frontal hairline
|
0009890 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Impaired mastication |
Chewing difficulties
Chewing difficulty
Difficulty chewing
[ more ] |
0005216 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Mild global developmental delay | 0011342 | |
Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ] |
0001357 |
More than five fingers or toes on hands or feet
|
0010442 | |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] |
0001852 |
0001250 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
Single transverse palmar crease | 0000954 | |
Slanting of the palpebral fissure |
Slanting of the opening between the eyelids
|
0200006 |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
Smooth philtrum | 0000319 | |
Thick lower lip vermilion |
Prominent lower lip
Increased volume of lower lip
Plump lower lip
[ more ] |
0000179 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ] |
0000243 |
Truncal obesity | 0001956 | |
Ventriculomegaly | 0002119 | |
Conditions with similar signs and symptoms from Orphanet
|
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Some similarities are found with Okihiro syndrome plus developmental delay, Angelman syndrome, Rett syndrome, Noonan syndrome, Kleefstra syndrome, Smith-Magenis syndrome, and other Coffin-Siris syndrome related disorders.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Social Networking Websites
- Visit the following Facebook groups related to ADNP syndrome:
ADNPkids International Family Support Group
ADNP Kids ADNP neuro-genetic related Autism syndrome
ADNP Kids Research Foundation
ADNP: Simons VIP Connect Community
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The ADNP Kids Research Foundation provides detailed information about ADNP syndrome.
- Genetics Home Reference (GHR) contains information on ADNP syndrome. This website is maintained by the National Library of Medicine.
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about ADNP syndrome.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
Selected Full-Text Journal Articles
- Gozes I et al. The Compassionate Side of Neuroscience: Tony Sermone’s Undiagnosed Genetic Journey—ADNP Mutation. J Mol Neurosci. 2015 Aug;56(4):751-7.
- Vandeweyer G et al., The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):315-26.
- Helsmoortel C et al., A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014 Apr;46(4):380-4.
References
- ADNP syndrome. ADNP Kids. https://adnpkids.weebly.com/. Accessed 3/7/2016.
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