Orphanet-MartaFructuoso
commented
3 months ago Dear María Elena,
Thank you for your message and the scientific references. The documentation of the request for the creation of an ORPHA code for Celia's disease was already underway on our part. We will carefully review the information provided along with the suggestions from ticket #236.
I will keep you informed of the decision of the scientific and medical meeting after the summer break.
Kind regards, Marta
Dear Marta,
I am writing to request the inclusion of the disease Celia’s Encephalopathy in Orphanet, on behalf of the Spanish patient association AELIP, also related to the issue #236.
I have been analysing the information that appears on the association's website and according to them, this disease is related to OMIM 615924 “Encephalopathy, progressive, with or without lipodystrophy”.
The only ORPHA linked to this OMIM is ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy. According to DataViz there is an Exact mapping between ORPHA:363400 and OMIM 615924, but the name used in OMIM suggests that lipodystrophy is not always present. Furthermore, this name seems to be used more frequently than the one chosen by Orphanet, for which I have not found references in the scientific literature, so perhaps you could consider changing the name.
In relation to OMIM 615924, the text mentions: “A number sign (#) is used with this entry because progressive encephalopathy with or without lipodystrophy (PELD) is caused by homozygous or compound heterozygous mutation in the BSCL2 gene (606158) on chromosome 11q13. Biallelic mutation in the BSCL2 gene can also cause congenital generalized lipodystrophy type 2 (CGL2; 269700), which is not associated with severe neurologic deterioration.”
It seems that the second paragraph would be the one related to Celia's encephalopathy, since the PO website also indicates that it is "an extremely rare subtype of Berardinelli-Seip syndrome type 2."
These are the publications that the PO has provided me where PELD and/or Celia encephalopathy appears: PMID: 23564749, PMID: 26282322, PMID: 27391332, PMID: 29367704, PMID: 30447390, PMID: 30903322, PMID: 31369919, PMID: 33089476, PMID: 33916074, PMID: 37717662, PMID: 35740965, PMDI: 33099310, PMID: 27452399, PMID: 30875980.
If you need more information from the association, please let me know.
Kind regards,
María Elena