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Phelan-McDermid Syndrome

Name: Phelan-McDermid Syndrome
Description: Phelan-McDermid Syndrome -- also known as 22q13 Deletion Syndrome -- is caused by the absence / loss of genes at the tip of the 22nd chromosome, with lack of the Shank3 / ProSAP2 gene suspected as the primary cause of the symptoms associated with the syndrome. This gene plays a pivotal role in development of the human nervous system, including the brain, and loss of this genetic component prevents proper nervous system construction during fetal development. There is a wide range of severity of symptoms observed in people with the deletion, but most exhibit moderate to severe developmental delays, physically and intellectually, but especially in speaking and communicating. Very low muscle tone is a common trait of the syndrome, and many have problems with eating, sleeping and emotional stability. - Def source - Phelan-McDermid Syndrome Foundation
Synonym(s): Chromosome 22q13.3 Deletion Syndrome, TELOMERIC 22q13 MONOSOMY SYNDROME, PHELAN-McDERMID SYNDROME, 22q13.3 deletion syndrome, 22q13 deletion syndrome, 22q13 Deletion Syndrome
Abbreviation: PMS
Has role: Chromosome Disorder, Chromosome Deletion
Super-category: Disease
Id: C536801
Related to: SHANK3
Link to OWL / RDF: Download this content as OWL/RDF


This disease is represented in both OMIM and MESH, references as follows: http://purl.bioontology.org/ontology/OMIM/606232

From OMIM: Phenotype description, molecular basis known.

MSH: http://purl.bioontology.org/ontology/MSH/C536801

Contributors

Aarnaud, Bandrow



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Facts about Phelan-McDermid SyndromeRDF feed
AbbrevPMS  +
CurationStatusuncurated  +
DefinitionPhelan-McDermid Syndrome -- also known as Phelan-McDermid Syndrome -- also known as 22q13 Deletion Syndrome -- is caused by the absence / loss of genes at the tip of the 22nd chromosome, with lack of the Shank3 / ProSAP2 gene suspected as the primary cause of the symptoms associated with the syndrome. This gene plays a pivotal role in development of the human nervous system, including the brain, and loss of this genetic component prevents proper nervous system construction during fetal development. There is a wide range of severity of symptoms observed in people with the deletion, but most exhibit moderate to severe developmental delays, physically and intellectually, but especially in speaking and communicating. Very low muscle tone is a common trait of the syndrome, and many have problems with eating, sleeping and emotional stability. - Def source - Phelan-McDermid Syndrome Foundation urce - Phelan-McDermid Syndrome Foundation
Has roleChromosome Disorder  +, and Chromosome Deletion  +
IdC536801  +
LabelPhelan-McDermid Syndrome  +
ModifiedDate28 October 2011  +
RelatedToSHANK3  +
SuperCategoryDisease  +
SynonymChromosome 22q13.3 Deletion Syndrome  +, TELOMERIC 22q13 MONOSOMY SYNDROME  +, PHELAN-McDERMID SYNDROME  +, 22q13.3 deletion syndrome  +, 22q13 deletion syndrome  +, and 22q13 Deletion Syndrome  +