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Disease Profile

SETBP1 disorder

Prevalence
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.

Unknown

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 intellectual disability, mild to moderate developmental delay, autism or autistic traits, and attention deficit. Speech may be absent or delayed.[1][2][3] Physical features may include a long face and elongated head (dolichocephaly), eyes that point downwards (downslanting palpebral fissures), and a thin upper lip.[1][2] SETBP1 disorder is caused by a loss-of-function mutation in one of the two copies of the SETBP1 gene.[1][2][3] The SETBP1 gene is located on the long (q) arm of chromosome 18.[2] Because the features of SETBP1 disorder are common, a genetic test (such as whole exome or genome sequencing) may be needed for diagnosis.

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
EEG abnormality
0002353
Hyperactivity
More active than typical
0000752
Intellectual disability, mild
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
Seizure
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
Autosomal dominant inheritance
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
Ptosis
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

      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

        1. 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/.
        2. 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.
        3. 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.