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Disease Profile
SATB2-associated 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.
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Age of onset
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ICD-10
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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)
SATB2 syndrome; SAS; 2q32q33 microdeletion syndromes;
Summary
The SATB2-associated
The organization UNIQUE has published information about SATB2-associated syndrome.
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
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Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/ -
The SATB2 Gene Foundation, Inc.
3050 Five Forks Trickum Road
Suite D-524
Lilburn, GA 30047
E-mail: allison@satb2gene.org
Website: https://www.satb2gene.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/
Social Networking Websites
- Visit the following Facebook groups related to SATB2-associated syndrome:
SATB2 Syndrome (2q33.1) and Glass Syndrome
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
- Genetics Home Reference (GHR) contains information on SATB2-associated syndrome. This website is maintained by the National Library of Medicine.
- The SATB2 Gene Foundation, Inc. provides information sheets for patients and families, as well as for medical professionals.
- Unique – Rare Chromosome Disorder Support Group is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about SATB2-associated 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss SATB2-associated syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Docker D, Schubach M, Menzel M, Munz M, Spaich C, Biskup S, Bartholdi D. Further delineation of the SATB2 phenotype. Eur J Hum Genet. 2014 Aug; 22(8):1034-9.
References
- Zarate YA & Fish JL. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet A. February, 2017.; 173(2):327-337. https://www.ncbi.nlm.nih.gov/pubmed/27774744.
- Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M & Chae JH. SATB2-associated syndrome presenting with Rett-like phenotypes. Clin Genet. June 2016; 89(6):728-32. https://www.ncbi.nlm.nih.gov/pubmed/26596517.
- Zarate YA & cols. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Am J Med Genet A. May, 2015; 167A(5):1026-32. https://www.ncbi.nlm.nih.gov/pubmed/25885067.