Request for Term Inclusion: "KCNH1-Related Disorders"

[EstherCha7]

I would like to submit a request that Orphanet include the term "KCNH1-Related Disorders" in your database. I was instructed to reach out to you directly from Gioconda Alyea at the National Organization for Rare Disorders. We believe that inclusion of this gene on your rare diseases list will help more patients and families find the support and resources that they need.

Preferred gene-related syndrome label KCNH1-related disorders

Synonyms KCNH1

Definition Any epileptic disorder in which the cause of the disease is a mutation in the KCNH1 gene.

**Definition source https://pubmed.ncbi.nlm.nih.gov/27267311/ PMID: 27267311 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804083/

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term? No

Other sources

• https://www.nature.com/articles/jhg20161
• https://link.springer.com/article/10.1007/s12035-022-02886-4
• https://aesnet.org/abstractslisting/kcnh1-variants-associated-with-neurodevelopmental-disorders-exhibit-gain-of-function

[Orphanet-MartaFructuoso]

Dear @EstherCha7,

I am pleased to inform you that we are currently working with experts from ERN - EpiCARE (European Reference Network for Rare and Complex Epilepsies) to review, update and complete the classification of rare epileptic syndromes and diseases with epilepsy. Your request will be documented and discussed in this context. I will inform you as soon as we reach a conclusion regarding the creation of an ORPHA code for this clinical condition.

Thank you for your interest and for contacting us. Kind regards, Marta

[galyea123]

Hi! Any news about this issue? We would like to inform that this condition was added to our NORD RD list as per MONDO. Thank you! Gioconda Alyea

[Orphanet-MartaFructuoso]

Dear @galyea123, Thank you for your message. Please note that for this kind of request, the treatment time can amount to around 6 months, due to our review process and the high volume of requests we are receiving.

I will inform you as soon as we reach a conclusion regarding the creation of an ORPHAcode for this clinical condition. Kind regards, Marta

[galyea123]

Excellent! Thank you!

[EstherCha7]

Great! Thank you all!

Regards,

Esther Cha Northwestern University Feinberg School of Medicine @.***

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From: galyea123 @.> Sent: Monday, October 21, 2024 9:36 AM To: OD4RD/Main-Help-Desk @.> Cc: Esther Cha @.>; Mention @.> Subject: Re: [OD4RD/Main-Help-Desk] Request for Term Inclusion: "KCNH1-Related Disorders" (Issue #263)

Excellent! Thank you!

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