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22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
22q13 deletion syndrome (Phelan–McDermid syndrome) [4] is a condition caused by the deletion of the tip of the q arm on chromosome 22. Most individuals with this disorder experience cognitive delays, low muscle tone, and sleeping, eating, and behavioural issues.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
GeneReviews is an online database containing standardized peer-reviewed articles that describe specific heritable diseases. It was established in 1997 as GeneClinics by Roberta A Pagon ( University of Washington ) with funding from the National Institutes of Health . [ 1 ]
Retrieved from "https://en.wikipedia.org/w/index.php?title=Phelan-McDermid_syndrome&oldid=65289780"
58234 Ensembl ENSG00000251322 ENSMUSG00000022623 UniProt Q9BYB0 Q4ACU6 RefSeq (mRNA) NM_001080420 NM_001372044 NM_021423 RefSeq (protein) NP_277052 NP_067398 Location (UCSC) Chr 22: 50.67 – 50.73 Mb Chr 15: 89.38 – 89.44 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse SH3 and multiple ankyrin repeat domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 ...
Phelan-McDermid syndrome: Monogenic disorder: SHANK3: 22 84% [in a single study composed by 32 participants] Molecularly defined [4] [8] Timothy syndrome: Monogenic disorder: CACNA1C: 12 80% [in a single study composed by 17 participants] Clinically defined [4] [9] Smith-Lemli-Opitz syndrome: Monogenic disorder: DHCR7: 11
NNZ-2591 is a synthetic analog of cyclic glycine-proline and experimental drug developed for Angelman syndrome, Phelan-McDermid syndrome, Pitt Hopkins syndrome, [1] [2] and Prader-Willi syndrome. [ 3 ]