Missing in Orphanet: OMIM # 619004 DEEAH Syndrome

[uunter98]

Hi Marie-Cecile, an expert from Austria pointed out that OMIM # 619004 DEEAH Syndrome (linked to MADD gene) is missing in the database (the gene is only linked to Non-specific syndromic intellectual disability in Orphanet). I think it should be crreated.

thanks! Ursula

[MCecile-US14]

Dear @uunter98,

Thank you for your request. Could you please provide specific clinical context and references helping us to assess that the OMIM reference is specific to RD clinical diagnosis. The fact that it is present in OMIM as an indvidual entry is not a proper indicator as their inclusion criteria are different from ours. As you mentioned, this gene is linked to ORPHA:528084 might say it is not specific enough to be considered (or MADD gene involved in different phenotypes as well) Thank you for clarifying, then this will be assigned to someone in the team, it may take up to 6 months to be reviewed in Orphanet disease meeting.

Kind Regards, Marie-Cécile

[uunter98]

Dear Marie-Cecile,

thank you for your consideration! My request was too incomplete, sorry for that. Actually, mutations in the MADD gene cause either "Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia", which in Orphanet was apparently considered unspecific, or DEEAH syndrome (developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities). The latter was now encountered by a coder here, and it sounded rather specific to me (the clinician suspected it because the child has, among other things, pancreatic exocrine dysfunction). In general, patients have "additional systemic involvement, most notably endocrine abnormalities". Here is the link to the gene: https://www.omim.org/entry/603584 and here to the disorder: https://www.omim.org/entry/619004

Apparently, at least 15 cases have been reported. The respective literature is mentioned in OMIM.

I hope this is helpful. Thank you and kind regards Ursula

[MCecile-US14]

Thank you for the details @uunter98 !

@Mickael-Orphanet please consider this new entry in the coming Orphanet disease meeting

Kind Regards, Marie-Cécile