KEGG DISEASE: ATR-X syndrome

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 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
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06512  Chromosome cohesion and segregation
   H01752  ATR-X syndrome

Pathway

hsa04110 Cell cycle

Network

nt06512 Chromosome cohesion and segregation

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:

ICD-10:

MeSH:

OMIM:

Reference

PMID:16100724

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

PMID:17579672

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

PMID:21653732

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

LinkDB

» Japanese version

DISEASE: X-linked intellectual disability-hypotonic facies syndrome

Entry

H02583                      Disease

Name

X-linked intellectual disability-hypotonic facies syndrome

Subgroup

Chudley-Lowry syndrome
Smith-Fineman-Myers syndrome 1 (SFM1)

Description

X-linked intellectual disability-hypotonic facies syndrome is an X-linked recessive condition characterized by moderate to severe intellectual disability, short stature, hypotonia, and distinctive facial features. It has been reported that mutations in ATRX gene cause this syndrome.