MCID: ALP095
MIFTS: 34

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Blood diseases, Mental 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 24 53 25
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 24 53
Alpha-Thalassemia X-Linked Mental Retardation Syndrome 25 29
Alpha Thalassemia/mental Retardation, X-Linked 24 25
Atr, Nondeletion Type 12 53
Atr-X Syndrome 12 25
Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked 53
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 73
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type 25
Alpha-Thalassemia/mental Retardation Syndrome Nondeletion Type 12
X-Linked Alpha-Thalassemia/intellectual Disability Syndrome 53
Alpha Thalassemia X-Linked Intellectual Disability Syndrome 25
Alpha Thalassemia X-Linked Mental Retardation Syndrome 25
X-Linked Alpha-Thalassemia/mental Retardation Syndrome 25
Xlmr Hypotonic Face Syndrome 53
Xlmr-Hypotonic Face Syndrome 25

Characteristics:

GeneReviews:

24
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 33 D56.0
UMLS 73 C1845055

Summaries for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

NIH Rare Diseases : 53 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 alpha-thalassemia, 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. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Genetics Home Reference : 25 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.

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

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:

26 (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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.35 DNMT3L SMARCA1 SMARCA2 SMARCA4 ATRX
2 normal MP:0002873 8.92 DNMT3L MAGT1 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 29

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

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
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. ( 16955409 )
2006
6
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
7
The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies. ( 12953102 )
2003
8
Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome. ( 12673795 )
2003
9
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome ( 20301622 )
1993

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.57 SMARCA1 SMARCA2 SMARCA4
2 11.33 ATRX SMARCA1 SMARCA2 SMARCA4
3
Show member pathways
11.21 SMARCA2 SMARCA4
4 11.14 ATRX SMARCA2
5
Show member pathways
11.05 SMARCA1 SMARCA2 SMARCA4
6 11.03 DNMT3L SMARCA4

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 nuclear chromatin GO:0000790 9.43 SMARCA1 SMARCA2 SMARCA4
2 SWI/SNF complex GO:0016514 9.16 SMARCA2 SMARCA4
3 nBAF complex GO:0071565 8.96 SMARCA2 SMARCA4
4 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 regulation of transcription by RNA polymerase II GO:0006357 9.62 DNMT3L SMARCA1 SMARCA2 SMARCA4
2 positive regulation of transcription, DNA-templated GO:0045893 9.58 SMARCA1 SMARCA2 SMARCA4
3 negative regulation of transcription, DNA-templated GO:0045892 9.54 DNMT3L SMARCA2 SMARCA4
4 negative regulation of cell growth GO:0030308 9.43 SMARCA2 SMARCA4
5 chromatin organization GO:0006325 9.43 ATRX SMARCA1 SMARCA4
6 DNA methylation GO:0006306 9.16 ATRX DNMT3L
7 ATP-dependent chromatin remodeling GO:0043044 9.13 SMARCA1 SMARCA2 SMARCA4
8 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:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.71 ATRX SMARCA1 SMARCA2 SMARCA4
2 ATP binding GO:0005524 9.67 ATRX SMARCA1 SMARCA2 SMARCA4
3 ATPase activity GO:0016887 9.5 SMARCA1 SMARCA2 SMARCA4
4 histone binding GO:0042393 9.43 ATRX SMARCA2 SMARCA4
5 hydrolase activity, acting on acid anhydrides GO:0016817 9.16 SMARCA2 SMARCA4
6 DNA-dependent ATPase activity GO:0008094 9.13 SMARCA1 SMARCA2 SMARCA4
7 helicase activity GO:0004386 8.92 ATRX SMARCA1 SMARCA2 SMARCA4

Sources for Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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