KEGG   DISEASE: 1p36 deletion syndromeHelp
Entry
H01792                      Disease                                

Name
1p36 deletion syndrome
Description
1p36 deletion syndrome is is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome. 1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deep-set eyes, midface hypoplasia, wide and depressed nasal bridge, long philtrum, and pointed chin. Developmental delay/intellectual disability of variable degree and hypotonia are present in almost all patients. Seizures occur in around half of affected individuals. Other findings include structural brain abnormalities, congenital heart defects, eye/vision problems, hearing loss, skeletal anomalies, abnormalities of the external genitalia, and renal abnormalities. There is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths.
Category
Chromosomal abnormality
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Chromosomal abnormalities
   H01792  1p36 deletion syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD44  Deletions of the autosomes
    H01792  1p36 deletion syndrome
BRITE hierarchy
Other DBs
ICD-11: LD44.11
ICD-10: Q93.5
MeSH: C535362
OMIM: 607872
Reference
  Authors
Jordan VK, Zaveri HP, Scott DA
  Title
1p36 deletion syndrome: an update.
  Journal
Appl Clin Genet 8:189-200 (2015)
DOI:10.2147/TACG.S65698
Reference
  Authors
Battaglia A
  Title
1p36 Deletion Syndrome
  Journal
GeneReviews (1993)
Reference
  Authors
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC
  Title
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
  Journal
Pediatrics 121:404-10 (2008)
DOI:10.1542/peds.2007-0929

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