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New disorder: neurooculocardiogenitourinary syndrome (NOCGUS) #215

Closed Orphanet-ES closed 3 months ago

Orphanet-ES commented 6 months ago

Dear all,

A Spanish coder suggests the creation of a specific ORPHAcode for neurooculocardiogenitourinary syndrome (NOCGUS), a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. NOCGUS is caused by heterozygous mutation in the WDR37 gene (618586) on chromosome 10p15.

These are the references that he has provided me: https://omim.org/entry/618652 https://www.sciencedirect.com/science/article/abs/pii/S0387760423001778 https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.62020

Kind regards,

María Elena

Orphanet-MartaFructuoso commented 5 months ago

Dear @Orphanet-ES, Thank you for your message. We will evaluate the creation of the ORPHAcode and inform you of the decision following the Medical and Scientific Committee meeting in September 2024. Best regards, Marta

Orphanet-MartaFructuoso commented 4 months ago

Dear @Orphanet-ES,

Based on current literature, Orphanet medical and scientific committee has validated the creation of 'NOCGUS syndrome, ORPHA:684305'. The code is already available on the Orphanet website. More information on the classification and the summary of the disease will be available as soon as possible.

Kind regards, Marta

Orphanet-ES commented 4 months ago

Dear @Orphanet-MartaFructuoso

Thanks for your help. I have already translated the name of the disease and will inform the expert once the translation is displayed on the website.

Kind regards,

María Elena

Orphanet-ES commented 3 months ago

Dear @Orphanet-MartaFructuoso ,

Please, add the OMIM 618652 to this ORPHA.

Kind regards,

María Elena

MCecile-US14 commented 3 months ago

Dear Maria Elena,

Thank you for your comment, as mentioned in the Orphanet disease meeting decision workflow, OMIM# are alignments annotations therefore they are applied by another nomenclature manager (after curation analysis) and subsequently to the creation of the ORPHAcode. (e.g. same for gene linkage, ICD-10 code, epidemiology data, HPO etc...) This will be achieved in a second time, and it may take extra time because the new alignment nomenclature manager is starting in September. Please do not reopen a ticket for this and newly creation.

Kind Regards, Marie-Cécile