Gene RNF220 and leukodystrophy

[Orphanet-Italia]

Dear all, a researcher from our Institute should apply to a grant call and asked us some informations about the following disease: "leukodystrophy caused by biallelic mutations in the RNF220 gene".

The researcher would like to complete the following informations:

Disease name: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy(HLD23) MeSH Terms:? Orpha number:? Orphanet classification: Orphanet classification of rare neurological diseases Disease OMIM Number: 619688 ICD-11 Code:?

Unfortunately I cannot find diseases linked to the RNF220 gene in the database and, couriously, I can only find the gene via google (https://www.orpha.net/en/disease/gene/RNF220). Can you help me please? Thank you in advance

Michele

[Orphanet-Italia]

Here follow the link to the paper describing the disease https://pubmed.ncbi.nlm.nih.gov/33964137/

[Mickael-Orphanet]

Dear @Orphanet-Italia ,

RNF220 gene is not in Orphanet anymore, the google page is an old SEO in google.

For the leukodystrophies, we are reviewing the classification and will be adding HLD23 to the list for creation. I will update you in the next months, our waiting time is around 6 months.

Thank you for your request.

Best regards, Mickael.

[Orphanet-Italia]

Dear @Mickael-Orphanet, thank you for the explanation, At present, I think that the more accurate ORPHA code for the above mentioned disease is ORPHA 68356 Leukodystrophy (Group of disorders), that's what I would suggest to the professional for the grant application. I would like to receive your feedback, thank you in advance. Kind regards Michele

[MCecile-US14]

Dear @Orphanet-Italia,

For now, it is okay to inform about the ORPHA:68358 'Leukodystrophy' which is a Group of Disorders. It is a very wide group and a Category in Orphanet classification, not a 'Clinical group' means Orphanet created this ORPHAcode for classification purpose only, not for diagnosis. To recapitulate above information, in ICD-11 the corresponding code would be ICD-11:8A44.Z 'Leukodystrophies, unspecified, also identified as non specific from WHO classification https://icd.who.int/browse/2024-01/mms/en#468040251%2Funspecified Please, remind this to the researcher, as @Mickael-Orphanet mentioned Orphanet will consider the creation of HLD23 as an individual clinical entity in the coming months according to the literature and will keep you update about the validation.

Kind regards, Marie-Cécile

[Orphanet-Italia]

Dear Marie-Cecile, thank you very much for the comprehensive explanation, I really appreciated! sorry for having deleted the question. Kind regards Michele

[MCecile-US14]

No worries, you did not delete anything I updated the title of your ticket to add 'leukodystrophy' for reference and to facilitate the search using keywords (name of disease, ORPHAcode) in GitHub. Best, Marie-Cécile

[MCecile-US14]

FYI, this is also ongoing #153