Telomeric 22q13 Monosomy Syndrome

A developmental disorder caused by heterozygous deletion of the portion of chromosome 22 that includes the SHANK3 gene, or by mutations in SHANK3. It is characterized by neonatal HYPOTONIA, normal to accelerated growth, LANGUAGE DEVELOPMENT DISORDERS, autistic behavior, and minor dysmorphic features. OMIM: 606232.

Also Known As:

Networked: 67 relevant articles (1 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Rett Syndrome (Rett's Disorder)
2.	Fragile X Syndrome (Martin Bell Syndrome)
3.	Epilepsy (Aura)
4.	Autism Spectrum Disorder
5.	Intellectual Disability (Idiocy)

Experts

1.	Buxbaum, Joseph D: 8 articles (11/2020 - 05/2012)
2.	Kolevzon, Alexander: 4 articles (01/2020 - 01/2014)
3.	Grabrucker, Andreas M: 4 articles (01/2018 - 01/2014)
4.	Buxbaum, J D: 3 articles (01/2022 - 01/2021)
5.	Halpern, D: 3 articles (01/2022 - 01/2021)
6.	Kolevzon, A: 3 articles (01/2022 - 01/2021)
7.	Liu, Yueying: 3 articles (01/2022 - 03/2021)
8.	Sun, Chenyu: 3 articles (01/2022 - 03/2021)
9.	Xu, Hua: 3 articles (01/2022 - 03/2021)
10.	Harony-Nicolas, Hala: 3 articles (11/2020 - 12/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Telomeric 22q13 Monosomy Syndrome:

1.	Insulin-Like Growth Factor I (IGF-1)IBA 01/01/2016 - "Clinical pilot studies and early reports have supported the safety/preliminary efficacy of IGF-1 and related compounds in the treatment of Rett Syndrome, with evidence mounting for its use in Phelan McDermid Syndrome and Fragile X Syndrome. "
2.	Insulin (Novolin)FDA Link 01/01/2015 - "Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome." 01/01/2014 - "A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome." 04/01/2009 - "We performed exploratory clinical trials in six children with 22q13 deletion syndrome who received intranasal insulin over a period of 1 year. " 01/01/2022 - "Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome." 01/01/2017 - "This paper compares the power of the parallel group design, the matched-pairs design, and several options for the stepped wedge and delayed start designs for testing a possible effect of intranasal insulin with respect to placebo on developmental growth of children with a rare disorder like Phelan-McDermid syndrome. "
3.	Human Growth Hormone (Saizen)FDA LinkGeneric 01/01/2022 - "Effectiveness of Recombinant Human Growth Hormone Therapy for Children With Phelan-McDermid Syndrome: An Open-Label, Cross-Over, Preliminary Study." 01/01/2023 - "Stratification of a Phelan-McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor."
4.	Deferoxamine (Desferal)FDA LinkGeneric 01/01/2018 - "Five known BGCs were identified encoding desferrioxamine, alkyl- O-dihydrogeranylmethoxyhydroquinone, a spore pigment, sioxanthin, and diazepinomicin, which is currently in phase II clinical trials to treat Phelan-McDermid syndrome and co-morbid epilepsy. "
5.	diazepinomicinIBA 01/01/2018 - "Five known BGCs were identified encoding desferrioxamine, alkyl- O-dihydrogeranylmethoxyhydroquinone, a spore pigment, sioxanthin, and diazepinomicin, which is currently in phase II clinical trials to treat Phelan-McDermid syndrome and co-morbid epilepsy. "
6.	sioxanthinIBA 01/01/2018 - "Five known BGCs were identified encoding desferrioxamine, alkyl- O-dihydrogeranylmethoxyhydroquinone, a spore pigment, sioxanthin, and diazepinomicin, which is currently in phase II clinical trials to treat Phelan-McDermid syndrome and co-morbid epilepsy. "
7.	Proteins (Proteins, Gene)FDA Link 11/01/2022 - "Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disease, caused by an autosomal dominant mutation due to the terminal deletion of 22q13, leading to a defect in the SHANK3 protein. " 11/17/2020 - "These observations suggest the occurrence of altered synaptic ultrastructure in this animal model, further pointing to a key role of defective expression of the Shank3 protein in ASD and Phelan-McDermid syndrome." 08/01/2003 - "Our analysis therefore supports haploinsufficiency of the gene SHANK3, which codes for a structural protein of the postsynaptic density, as a major causative factor in the neurological symptoms of 22q13 deletion syndrome." 01/01/2023 - "Mutation or deletion of the SHANK3 gene, which encodes a synaptic scaffolding protein, is linked to autism spectrum disorder and Phelan-McDermid syndrome, conditions associated with social memory impairments. " 11/01/2022 - "This stage involves heightened cortical plasticity including homeostatic synaptic scaling, which requires Shank3, a glutamatergic synaptic protein that, when mutated, produces Phelan-McDermid syndrome and is often comorbid with autism spectrum disorder (ASD). "
8.	Growth Hormone (Somatotropin)IBA 01/01/2022 - "A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome." 04/14/2021 - "Correction to: A case report of Phelan-McDermid syndrome: preliminary results of the treatment with growth hormone therapy." 03/04/2021 - "A case report of Phelan-McDermid syndrome: preliminary results of the treatment with growth hormone therapy." 01/01/2021 - "Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone."
9.	ZincIBA 04/01/2022 - "Zinc deficiency and supplementation in autism spectrum disorder and Phelan-McDermid syndrome." 01/01/2018 - "Prospects of Zinc Supplementation in Autism Spectrum Disorders and Shankopathies Such as Phelan McDermid Syndrome." 01/01/2014 - "Most importantly, a low zinc status seems to be associated with an increased incidence rate of seizures, hypotonia, and attention and hyperactivity issues in patients with Phelan-McDermid syndrome, which is caused by haploinsufficiency of ProSAP2/Shank3. "
10.	Glutamate Receptors (Glutamate Receptor)IBA 02/01/2014 - "Phelan McDermid syndrome involves mutations in SHANK3 which encodes a protein that forms a scaffold for glutamate receptors at the synapse. " 05/01/2010 - "An altered preset of the glutamate receptors, due to the presence of a haploinsufficiency of SHANK3/PROSAP2, could explain the different results of risperidone therapy observed in our patient with 22q13.3 deletion syndrome."

Therapies and Procedures

1.	Therapeutics 12/01/2015 - "Finally, we discuss how all these discoveries are uncovering the pathophysiology of Phelan-McDermid syndrome and are being translated into clinical trials for novel therapeutics ameliorating the core symptoms of the disorder. " 01/01/2022 - "Effectiveness of Recombinant Human Growth Hormone Therapy for Children With Phelan-McDermid Syndrome: An Open-Label, Cross-Over, Preliminary Study." 04/14/2021 - "Correction to: A case report of Phelan-McDermid syndrome: preliminary results of the treatment with growth hormone therapy." 03/04/2021 - "A case report of Phelan-McDermid syndrome: preliminary results of the treatment with growth hormone therapy." 05/01/2010 - "An altered preset of the glutamate receptors, due to the presence of a haploinsufficiency of SHANK3/PROSAP2, could explain the different results of risperidone therapy observed in our patient with 22q13.3 deletion syndrome."
2.	Drug Therapy (Chemotherapy) 01/01/2021 - "Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome." 03/01/2020 - "A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome." 01/01/2018 - "The rat model of the auditory impairments in SHANK3 mutation could be used to test potential rehabilitation or drug therapies to improve the communication impairments observed in individuals with Phelan-McDermid syndrome." 01/01/2018 - "The rat model of the auditory impairments in SHANK3 mutation could be used to test potential rehabilitation or drug therapies to improve the communication impairments observed in individuals with Phelan-McDermid syndrome. "
3.	Liver Transplantation 08/01/2010 - "Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome." 02/01/2009 - "We report a 7-year-old girl with 22q13 deletion syndrome, 46,XX,Ish del(22)(q13.3)(ARSA-; D22S1726), who developed a fulminant autoimmune hepatitis requiring orthotopic liver transplantation. "
4.	Transcranial Direct Current Stimulation 11/01/2022 - "Efficacity of tDCS in catatonic patients with Phelan McDermid syndrome, a case series."
5.	Speech Therapy (Therapy, Speech) 03/27/2019 - "Examining factors affecting parental satisfaction with speech therapy in children with Phelan-McDermid Syndrome." 03/27/2019 - "Objectives: This paper explores the relationship between speech therapy intensity and parent satisfaction with speech therapy (ST) in children with Phelan-McDermid Syndrome (P-MS), a rare genetic disorder. "