Chromosome 1p36 Deletion Syndrome

A disorder that results from deletion of chromosome 1p36 region. It is characterized by multiple congenital craniofacial and skeletal abnormalities, HEART SEPTAL DEFECTS; HYPOTHYROIDISM; seizures, and severe neuordevelopmental and intellectual disability. It is the most common terminal deletion syndrome, occurring in 1 in 5,000 births. OMIM: 607872

Also Known As:

Networked: 13 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Seizures (Absence Seizure)
2.	Angelman Syndrome (Syndrome, Angelman)
3.	Epilepsy (Aura)
4.	DiGeorge Syndrome (Syndrome, DiGeorge)
5.	Smith-Magenis Syndrome

Experts

1.	Kurosawa, Kenji: 2 articles (07/2007 - 08/2005)
2.	Aizawa, Tomomi: 1 article (01/2022)
3.	Al Rushud, Mohammed A: 1 article (01/2022)
4.	Al-Zayed, Zayed: 1 article (01/2022)
5.	Alsager, Ghadeer: 1 article (01/2022)
6.	Bhat, Jehangir A: 1 article (01/2022)
7.	Bin Majid, Ozair: 1 article (01/2022)
8.	Fujita, Masashi: 1 article (01/2022)
9.	Hashimoto, Shun: 1 article (01/2022)
10.	Hosoda, Tatsuo: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chromosome 1p36 Deletion Syndrome:

1.	Potassium Channels (Potassium Channel)IBA 08/01/2005 - "Although haploinsufficiency of the potassium channel beta-subunit (KCNAB2) is thought to be responsible for intractable seizures in the 1p36 deletion syndrome, this was not the case for 3 of the 11 patients in this study. " 09/01/2001 - "Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome."
2.	dichlorobis(azomycin)platinum IIIBA 02/01/2018 - "To present a case with prenatal diagnosis and cytogenetic characterization of 1p36 deletion syndrome whose first trimester combined testing is abnormal but a normal NIPT result. " 04/20/2021 - "One hundred and thirty-four laboratories were fully or partially aware of the clinical performance of NIPT to detect microdeletion/microduplication syndromes, and the laboratories' declared sensitivity of NIPT for Cri du Chat syndrome, 22q11.2 deletion syndrome, 1p36 deletion syndrome, and Angelman syndrome were 50.0%-100%, 60.0%-100%, 50.0%-100%, and 33.3%-100%, and the positive predictive values were 9.0%-50.0%, 18.0%-100%, 20.0%-30.0%, and 20.0%. "
3.	Glutamic Acid (Glutamate)FDA Link 12/01/2021 - "The arginine-glutamic acid dipeptide (RE) repeats gene (RERE) is located in the proximal critical region for 1p36 deletion syndrome and encodes a nuclear receptor co-regulator. "
4.	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 12/01/2021 - "The arginine-glutamic acid dipeptide (RE) repeats gene (RERE) is located in the proximal critical region for 1p36 deletion syndrome and encodes a nuclear receptor co-regulator. "
5.	TitaniumIBA 01/01/2022 - "Outcome of Vertical Expandable Prosthetic Titanium Rib (VEPTR) Instrumentation in Scoliosis Associated With 1p36 Deletion Syndrome: A Case Report."
6.	Methylphenidate (Ritalin)FDA LinkGeneric 11/17/2021 - "Off-label use of melatonin (for insomnia) and methylphenidate (for attention deficit/hyperactivity disorder) should be considered in young children with 1p36 deletion syndrome if behavioral interventions are not sufficient."
7.	MelatoninIBA 11/17/2021 - "Off-label use of melatonin (for insomnia) and methylphenidate (for attention deficit/hyperactivity disorder) should be considered in young children with 1p36 deletion syndrome if behavioral interventions are not sufficient."
8.	Immunoglobulin E (IgE)IBA 01/13/2023 - "Four patients with rare diseases, such as recessive X-linked ichthyosis (RXLI, OMIM 308100), Comel-Netherton syndrome (NS, OMIM256500), monosomy 1p36 syndrome (OMIM: 607872), and a microduplication of Xp11.4 associated with extremely high levels of IgE: 7.710 kU/L, 5.300 kU/L, 1.826 kU/L, and 10.430 kU/L, respectively, were evaluated by micro- and macroarray multiplex methods. "
9.	DipeptidesIBA 12/01/2021 - "The arginine-glutamic acid dipeptide (RE) repeats gene (RERE) is located in the proximal critical region for 1p36 deletion syndrome and encodes a nuclear receptor co-regulator. "
10.	Carbamazepine (Tegretol)FDA LinkGeneric 07/01/2007 - "[Effect of carbamazepine on epilepsy with 1p36 deletion syndrome]."

Therapies and Procedures

1.	Ligation 01/01/2010 - "Multiplex ligation probe amplification using the monosomy 1p36 syndrome-specific kit coupled to the subtelomeric kit is an effective approach to identify and delineate rearrangements at 1p36." 02/01/2009 - "Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. "
2.	Off-Label Use 11/17/2021 - "Off-label use of melatonin (for insomnia) and methylphenidate (for attention deficit/hyperactivity disorder) should be considered in young children with 1p36 deletion syndrome if behavioral interventions are not sufficient."
3.	Therapeutics 01/01/2022 - "Abatacept as an alternative therapy for the treatment of drug-intolerant lupus nephritis: A case of underlying monosomy 1p36 deletion syndrome."