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Disease Profile
SETBP1 disorder
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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)
SETBP1-related disorder; SETBP1-related intellectual disability; SETBP1 related developmental delay;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
SETBP1 disorder is a neurodevelopmental disorder characterized by
A different type of mutation in the SETBP1 gene causes a different and more severe condition called Schinzel Giedion syndrome.
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 |
| Motor delay | 0001270 | |
| 30%-79% of people have these symptoms | ||
| Abnormal social behavior |
Abnormal social behaviour
|
0012433 |
| 0002353 | ||
| Hyperactivity |
More active than typical
|
0000752 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
| Mutism |
Inability to speak
Muteness
[ more ] |
0002300 |
| 5%-29% of people have these symptoms | ||
| Cafe-au-lait spot | 0000957 | |
| Incomprehensible speech | 0002546 | |
| Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
| Intellectual disability, profound |
IQ less than 20
|
0002187 |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
| 0001250 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
| Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
| 0000006 | ||
| Brachycephaly |
Short and broad skull
|
0000248 |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
| Narrow palate |
Narrow roof of mouth
|
0000189 |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ] |
0000307 |
|
Drooping upper eyelid
|
0000508 | |
| Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.
Organizations Supporting this Disease
-
SETBP1 Society
P.O. Box 301584
Austin, TX 78703
E-mail: info@setbp1.org
Website: https://www.setbp1.org
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.
In-Depth Information
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss SETBP1 disorder. Click on the link to view a sample search on this topic.
References
- Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, et al.. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014 Oct; 46(10):1063-71. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177294/.
- Filges I, Shimojima K, Okamoto N, Röthlisberger B, Weber P, Huber AR, et al.. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet. 2011 Feb; 48(2):117-22. https://www.ncbi.nlm.nih.gov/pubmed/21037274.
- Barnett CP, van Bon BWM. Monogenic and chromosomal causes of isolated speech and language impairment. Journal of Medical Genetics. 2015; 52:719-729. https://jmg.bmj.com/content/52/11/719.long.