Coffin-Siris syndrome

A hereditary autosomal recessive neurodevelopmental syndrome with broad phenotypic and genetic variability. Affected individuals generally have intellectual disability, coarse facial features, HYPERTRICHOSIS, and hypoplastic or absent fifth fingernails or toenails. Other abnormalities include PTOSIS; CHOANAL ATRESIA, cardiac defects, and genital anomalies. Mutations in components of the SWI/SNF CHROMATIN REMODELING complex have been identified. OMIM: 135900

Also Known As:

Networked: 28 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Kleefstra Syndrome
2.	Intellectual Disability (Idiocy)
3.	Nicolaides Baraitser syndrome
4.	Neurodevelopmental Disorders
5.	Neoplasms (Cancer)

Experts

1.	Reis, André: 2 articles (06/2020 - 01/2018)
2.	Bramswig, Nuria C: 2 articles (01/2019 - 01/2018)
3.	Wieczorek, Dagmar: 2 articles (01/2019 - 01/2018)
4.	Wollnik, Bernd: 2 articles (01/2018 - 01/2018)
5.	Bartsch, Oliver: 1 article (01/2021)
6.	Chronopoulos, Panagiotis: 1 article (01/2021)
7.	Diel, Heidi: 1 article (01/2021)
8.	Ding, Can: 1 article (01/2021)
9.	Grehn, Franz: 1 article (01/2021)
10.	Hoffmann, Esther M: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Coffin-Siris syndrome:

1.	MethyltransferasesIBA 03/03/2019 - "From large-scale human DNA sequencing studies, we further propose that the lysine methyltransferase gene, KMT5B (OMIM: 610881), may fit into a category of epigenetic modifier genes that are critical for typical neurodevelopment, such as EHMT1 and ARID1B, which are associated with Kleefstra syndrome (OMIM: 610253) and Coffin-Siris syndrome (OMIM: 135900), respectively. "
2.	Lysine (L-Lysine)FDA Link 03/03/2019 - "From large-scale human DNA sequencing studies, we further propose that the lysine methyltransferase gene, KMT5B (OMIM: 610881), may fit into a category of epigenetic modifier genes that are critical for typical neurodevelopment, such as EHMT1 and ARID1B, which are associated with Kleefstra syndrome (OMIM: 610253) and Coffin-Siris syndrome (OMIM: 135900), respectively. "
3.	DNA (Deoxyribonucleic Acid)IBA 03/03/2019 - "From large-scale human DNA sequencing studies, we further propose that the lysine methyltransferase gene, KMT5B (OMIM: 610881), may fit into a category of epigenetic modifier genes that are critical for typical neurodevelopment, such as EHMT1 and ARID1B, which are associated with Kleefstra syndrome (OMIM: 610253) and Coffin-Siris syndrome (OMIM: 135900), respectively. "
4.	ChromatinIBA 01/01/2021 - "Loss-of-function mutations in chromatin remodeler gene ARID1A are a cause of Coffin-Siris syndrome, a developmental disorder characterized by dysgenesis of corpus callosum. " 01/01/2018 - "Variants affecting the function of different subunits of the BAF chromatin-remodelling complex lead to various neurodevelopmental syndromes, including Coffin-Siris syndrome. " 01/01/2021 - "Many developmental disorders, such as Coffin-Siris Syndrome, characterized by growth impairment and intellectual disability are associated with mutations in subunits of the SWI/SNF chromatin remodeler complex, which is an essential regulator of transcription. " 01/01/2017 - "SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and in almost all small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) tumours. "
5.	Growth Hormone (Somatotropin)IBA 12/01/2022 - "Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome." 01/01/2022 - "Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review." 02/01/2008 - "Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome."
6.	Proteins (Proteins, Gene)FDA Link 01/11/2021 - "Recently, primary (open-angle) glaucoma was described in two children with the most common form of Coffin-Siris syndrome, CSS1 (OMIM #135900) by ARID1B (AT-rich interaction domain-containing protein 1B) gene mutation. " 12/07/2022 - "Mutations in AT-rich interactive domain-containing protein 1A (ARID1A) cause Coffin-Siris syndrome (CSS), a rare genetic disorder that results in mild to severe intellectual disabilities. " 01/01/2018 - "Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in mammals, cause a spectrum of disorders that ranges from syndromic intellectual disability to Coffin-Siris syndrome (CSS) to Nicolaides-Baraitser syndrome (NCBRS). "
7.	Sucrose (Saccharose)IBA 06/01/2013 - "Mutations in the components of the SWItch/sucrose nonfermentable (SWI/SNF)-like chromatin remodeling complex have recently been reported to cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and ARID1B-related intellectual disability (ID) syndrome. " 11/01/2012 - "Heterozygous germline mutations in components of switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complexes were recently identified in patients with non-syndromic intellectual disability, Coffin-Siris syndrome and Nicolaides-Baraitser syndrome. "
8.	Anesthetics (Anesthetic Agents)IBA 01/01/2023 - "Anesthetic management in a child with Coffin Siris syndrome." 08/01/2004 - "Anesthetic management in a child with Coffin-Siris syndrome."
9.	BiotinidaseIBA 07/01/1991 - "Coffin-Siris syndrome with normal plasma biotinidase activity."
10.	Nonsense Codon (Nonsense Mutation)IBA 06/29/2020 - "ARID1B haploinsufficiency induced by missense or nonsense mutations of ARID1B is a cause of Coffin-Siris syndrome (CSS), a neurodevelopmental disorder associated with intellectual disability. "

Therapies and Procedures

1.	Herniorrhaphy 01/01/2005 - "A 3-year-old boy with Coffin-Siris syndrome was scheduled to undergo diagnostic laparoscopy, inguinal herniorrhaphy and orchiopexy at an ambulatory setting and same-day admission. "
2.	Airway Management 01/01/2017 - "Successful difficult airway management of a child with Coffin-siris syndrome."
3.	Orchiopexy 01/01/2005 - "A 3-year-old boy with Coffin-Siris syndrome was scheduled to undergo diagnostic laparoscopy, inguinal herniorrhaphy and orchiopexy at an ambulatory setting and same-day admission. "
4.	Epidural Analgesia 11/01/2007 - "We report the case of a parturient with Coffin-Siris syndrome who refused epidural analgesia for labor pain and for whom the obstetrician later decided that an emergency cesarean was necessary due to fetal distress."
5.	Mechanical Ventilators (Ventilator) 02/01/1988 - "An 8-year old patient with Coffin-Siris syndrome is presented, who was found to have a medulloblastoma during the evaluation of apnea and ventilator dependency. "