MCID: ALP095
MIFTS: 36

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Categories: Blood diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

MalaCards integrated aliases for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:

Name: Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 12 15
Atrx Syndrome 25 54 26
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 25 54
Alpha-Thalassemia X-Linked Mental Retardation Syndrome 26 30
Atr, Nondeletion Type 12 54
Atr-X Syndrome 12 26
Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked 54
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 74
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type 26
Alpha-Thalassemia/mental Retardation Syndrome Nondeletion Type 12
X-Linked Alpha-Thalassemia/intellectual Disability Syndrome 54
Alpha Thalassemia X-Linked Intellectual Disability Syndrome 26
Alpha Thalassemia X-Linked Mental Retardation Syndrome 26
X-Linked Alpha-Thalassemia/mental Retardation Syndrome 26
Alpha Thalassemia / Mental Retardation, X-Linked 25
Alpha Thalassemia/mental Retardation, X-Linked 26
Xlmr Hypotonic Face Syndrome 54
Xlmr-Hypotonic Face Syndrome 26

Characteristics:

GeneReviews:

25
Penetrance Penetrance is presumed to be 100% in males as atrx pathogenic variants have not been reported in normal males...

Classifications:



External Ids:

Disease Ontology 12 DOID:0110030
ICD10 34 D56.0
UMLS 74 C1845055

Summaries for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

NIH Rare Diseases : 54 Alpha-thalassemia x-linkedintellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms.  It is caused by mutations in the ATRX gene and is inherited in an x-linked way.  Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.

MalaCards based summary : Alpha Thalassemia-X-Linked Intellectual Disability Syndrome, also known as atrx syndrome, is related to alpha-thalassemia/mental retardation syndrome, x-linked and mental retardation, x-linked, syndromic, turner type, and has symptoms including constipation An important gene associated with Alpha Thalassemia-X-Linked Intellectual Disability Syndrome is ATRX (ATRX Chromatin Remodeler), and among its related pathways/superpathways are AMPK Enzyme Complex Pathway and Chromatin Regulation / Acetylation. Affiliated tissues include temporal lobe, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 An alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21.

Genetics Home Reference : 26 Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males.

GeneReviews: NBK1449

Related Diseases for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Graphical network of the top 20 diseases related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:



Diseases related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Symptoms & Phenotypes for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

UMLS symptoms related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:


constipation

GenomeRNAi Phenotypes related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.5 ATRX SMARCA1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.5 SMARCA1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.5 SMARCA1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.5 SMARCA1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.5 SMARCA1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.5 SMARCA1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.5 ATRX SMARCA1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.5 ATRX
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.5 SMARCA1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.5 ATRX
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.5 ATRX
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.5 ATRX
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.5 ATRX

MGI Mouse Phenotypes related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 ATRX DNMT3L ERCC6 SMARCA1 SMARCA2 SMARCA4
2 cardiovascular system MP:0005385 9.72 ATRX BTAF1 DNMT3L SMARCA1 SMARCA4
3 growth/size/body region MP:0005378 9.63 ATRX BTAF1 ERCC6 SMARCA1 SMARCA2 SMARCA4
4 muscle MP:0005369 9.26 BTAF1 ERCC6 SMARCA2 SMARCA4
5 nervous system MP:0003631 9.1 ATRX BTAF1 DNMT3L ERCC6 SMARCA1 SMARCA4

Drugs & Therapeutics for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Search Clinical Trials , NIH Clinical Center for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Genetic Tests for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Genetic tests related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:

# Genetic test Affiliating Genes
1 Alpha-Thalassemia X-Linked Mental Retardation Syndrome 30

Anatomical Context for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

MalaCards organs/tissues related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:

42
Temporal Lobe

Publications for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Articles related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome:

# Title Authors Year
1
Deciphering the Molecular Effects of Mutations on ATRX Cause ATRX Syndrome: A Molecular Dynamics Study. ( 28294389 )
2017
2
Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation. ( 25936994 )
2015
3
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes. ( 24130152 )
2014
4
Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome. ( 24289169 )
2014
5
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. ( 16813605 )
2006
6
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. ( 16955409 )
2006
7
Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome. ( 12673795 )
2003
8
The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies. ( 12953102 )
2003

Variations for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Expression for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Search GEO for disease gene expression data for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome.

Pathways for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

GO Terms for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Cellular components related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.91 ATRX BTAF1 DNMT3L ERCC6 SMARCA1 SMARCA2
2 nucleoplasm GO:0005654 9.73 ATRX BTAF1 ERCC6 SMARCA1 SMARCA2 SMARCA4
3 nuclear chromatin GO:0000790 9.5 SMARCA1 SMARCA2 SMARCA4
4 SWI/SNF complex GO:0016514 9.16 SMARCA2 SMARCA4
5 nBAF complex GO:0071565 8.96 SMARCA2 SMARCA4
6 npBAF complex GO:0071564 8.62 SMARCA2 SMARCA4

Biological processes related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.71 ATRX SMARCA1 SMARCA2 SMARCA4
2 chromatin organization GO:0006325 9.5 ATRX SMARCA1 SMARCA4
3 negative regulation of cell growth GO:0030308 9.46 SMARCA2 SMARCA4
4 negative regulation of transcription, DNA-templated GO:0045892 9.46 BTAF1 DNMT3L SMARCA2 SMARCA4
5 multicellular organism growth GO:0035264 9.43 ATRX ERCC6
6 DNA methylation GO:0006306 9.26 ATRX DNMT3L
7 ATP-dependent chromatin remodeling GO:0043044 9.13 SMARCA1 SMARCA2 SMARCA4
8 DNA duplex unwinding GO:0032508 9.07 ERCC6
9 chromatin remodeling GO:0006338 8.92 ATRX SMARCA1 SMARCA2 SMARCA4

Molecular functions related to Alpha Thalassemia-X-Linked Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.85 ATRX BTAF1 ERCC6 SMARCA1 SMARCA2
2 hydrolase activity GO:0016787 9.73 ATRX BTAF1 ERCC6 SMARCA1 SMARCA2 SMARCA4
3 chromatin binding GO:0003682 9.65 ATRX ERCC6 SMARCA2
4 ATP binding GO:0005524 9.63 ATRX BTAF1 ERCC6 SMARCA1 SMARCA2 SMARCA4
5 ATPase activity GO:0016887 9.61 SMARCA1 SMARCA2 SMARCA4
6 histone binding GO:0042393 9.54 ATRX SMARCA2 SMARCA4
7 protein N-terminus binding GO:0047485 9.49 ERCC6 SMARCA4
8 hydrolase activity, acting on acid anhydrides GO:0016817 9.32 SMARCA2 SMARCA4
9 DNA-dependent ATPase activity GO:0008094 9.26 ERCC6 SMARCA1 SMARCA2 SMARCA4
10 DNA helicase activity GO:0003678 9.1 ERCC6
11 helicase activity GO:0004386 9.1 ATRX BTAF1 ERCC6 SMARCA1 SMARCA2 SMARCA4

Sources for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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