KEGG   DISEASE: Phelan-McDermid syndrome
Entry
H01238                      Disease                                
Name
Phelan-McDermid syndrome;
Chromosome 22q13.3 deletion syndrome
Description
Phelan-McDermid syndrome is a genetic disorder caused by a microdeletion on chromosome 22. It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. It has been indicated that this syndrome may also be caused by mutations in the SHANK3/PROSAP2 gene.
Category
Chromosomal abnormality
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD44  Deletions of the autosomes
    H01238  Phelan-McDermid syndrome
Pathway
hsa04724  Glutamatergic synapse
Gene
SHANK3 [HSA:85358] [KO:K15009]
Other DBs
ICD-11: LD44.NY
ICD-10: Q93.5
MeSH: C536801
OMIM: 606232
Reference
PMID:11431708
  Authors
Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O
  Title
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.
  Journal
Am J Hum Genet 69:261-8 (2001)
DOI:10.1086/321293
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