From a review on Cerebral Folate Deficiency:

A disorder initially reported as folinic acid responsive epilepsy was subsequently shown to be allelic with PDE – both are caused by biallelic mutations in ALDH7A1 (Gallagher et al, 2009).

Does it mean that the same exact mutation causes both diseases, and they are fully identical? I think it means that, but I'm not 100% sure, so I decided to ask here.

Since by allele we mean "a variant form of a given gene" this must be the term to indicate that two diseases previously considered different are in fact fully identical.


1 Answer 1


According to Humpath.com, allelic diseases are two different diseases caused by mutations of the same gene.

Two or more different errors at the same gene can result in two or more different diseases.


  • The mentioned folinic acid-responsive epilepsy and pyridoxine-dependent epilepsy (NCBI Gene Reviews)
  • Noonan syndrome and LEOPARD syndrome (PubMed)
  • Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome (PubMed)
  • Muckle-Wells syndrome, CINCA syndrome and familial cold urticaria (Orphanet)
  • So it could be two different alleles (variations of the same gene) causing two diseases with slightly different clinical profiles? Interesting. Judging by the name alone, I thought it meant "the very same allele". Now I'll think how to translate this into Russian.. May 6, 2019 at 10:41
  • 1
    Yes, they are different alleles - the variations of the same gene.
    – Jan
    May 6, 2019 at 10:46

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