KEGG   DISEASE: ATR-X syndrome
Entry
H01752                      Disease                                

Name
ATR-X syndrome;
X-linked alpha-thalassemia/mental retardation syndrome
  Supergrp
Thalassemia [DS:H00228]
Description
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome) is a rare syndromic form of X-linked mental retardation. It is characterized by severe mental retardation in males, characteristic facial appearance, alpha thalassaemia, genital anomalies, skeletal abnormalities, and characteristic posture and/or behavior. ATR-X syndrome is caused by a mutation in the ATRX gene, a critical factor involved in heterochromatin formation at mammalian centromeres and telomeres.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01752  ATR-X syndrome
 Congenital malformations
  Other congenital malformations
   H01752  ATR-X syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H01752  ATR-X syndrome
Gene
ATRX [HSA:546] [KO:K10779]
Comment
The X-linked mental retardation-hypotonic facies syndrome (MRXHF1) is also caused by mutation in the ATRX gene. MRXHF1 comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. See also H00228 Thalassemia and H00577 Syndromic X-linked mental retardation.
Other DBs
ICD-11: LD90.Y
ICD-10: Q87.0
MeSH: C538258 C537457
OMIM: 301040 309580
Reference
  Authors
Wada T, Sugie H, Fukushima Y, Saitoh S
  Title
Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.
  Journal
Am J Med Genet A 138:18-20 (2005)
DOI:10.1002/ajmg.a.30901
Reference
  Authors
Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K
  Title
Partial duplications of the ATRX gene cause the ATR-X syndrome.
  Journal
Eur J Hum Genet 15:1094-7 (2007)
DOI:10.1038/sj.ejhg.5201878
Reference
  Authors
De La Fuente R, Baumann C, Viveiros MM
  Title
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
  Journal
Reproduction 142:221-34 (2011)
DOI:10.1530/REP-10-0380
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