What is this SYNGAP1 illness / disease / syndrome / NDD / DEE / MRD5 / NSID actually called?  #S10e133

A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611 

B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011)

C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011)

D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015)
De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellectual Disability

E. SYNGAP1 DEE - https://pubmed.ncbi.nlm.nih.gov/30541864/ (Vlaskamp, 2019)

F. SYNGAP1 Related-ID - ICD-10 & Hopkins
 - https://www.pnas.org/doi/abs/10.1073/pnas.2308891120 (Araki 2023)
 - https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/ (ICD-10, 2021)

G. SYNGAP1 Related Disorders - https://www.chop.edu/conditions-diseases/syngap1-related-disorders

H. SYNGAP1 Syndrome - ICD-11
 - https://twitter.com/cureSYNGAP1/status/1730629792137883800 (2024)

My vote (today) is that we have a disease that is a DEE called SYNGAP1 Related Disorders (SRD).

These monogenic disorders are anything but monolithic.

Disease vs. Syndrome, read this: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1480257/ (Cavalo, 2003)
A syndrome is a recognizable complex of symptoms and physical findings which indicate a specific condition for which a direct cause is not necessarily understood...Once medical science identifies a causative agent or process with a fairly high degree of certainty, physicians may then refer to the process as a disease, not a syndrome.

NDD vs DEE - We are a DEE
“Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population. Developmental epileptic encephalopathies (DEE) are NDD characterized by epilepsy and delayed development or loss of developmental skills. Although the prevalence of DEEs remains to be determined, studies estimate that single-gene epilepsies occur in around 1 in 2100 births annually.”
https://medicalxpress.com/news/2022-12-neurodevelopmental-epilepsy-disorder-genetic.html

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Episode 133 of #Syngap10 - Feb 13, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat