MCID: ALP016
MIFTS: 16

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome malady

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

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

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Aliases & Descriptions for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome:

Name: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 22 46 23
Atrx Syndrome 22 46 23 24
Alpha Thalassemia/mental Retardation, X-Linked 22 23 24
Alpha-Thalassemia X-Linked Mental Retardation Syndrome 23 24
Xlmr-Hypotonic Face Syndrome 23 24
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 66
Alpha Thalassemia Mental Retardation Syndrome, Nondeletion Type, X-Linked 46
 
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type 24
Alpha Thalassemia X-Linked Intellectual Disability Syndrome 24
Alpha Thalassemia X-Linked Mental Retardation Syndrome 24
X-Linked Alpha-Thalassemia/mental Retardation Syndrome 24
Xlmr Hypotonic Face Syndrome 46
Atr, Nondeletion Type 46
Atr-X Syndrome 24

Classifications:



Summaries for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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NIH Rare Diseases:46 Alpha-thalassemia x-linked intellectual 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. last updated: 10/3/2012

MalaCards based summary: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome, also known as atrx syndrome, is related to alpha-thalassemia/mental retardation syndrome and thalassemia, and has symptoms including constipation An important gene associated with Alpha-Thalassemia X-Linked Intellectual Disability Syndrome is ATRX (ATRX, Chromatin Remodeler).

Genetics Home Reference:24 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 summary for NBK1449

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

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Diseases related to Alpha-Thalassemia X-Linked Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1alpha-thalassemia/mental retardation syndrome11.4
2thalassemia10.4
3intellectual disability10.4
4leukemia9.8

Symptoms for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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


constipation

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Alpha-Thalassemia X-Linked Intellectual Disability Syndrome23 ATRX

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

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Animal Models for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome or affiliated genes

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Publications for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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

idTitleAuthorsYear
1
Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation. (25936994)
2015
2
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome (20301622)
1993

Variations for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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Expression for genes affiliated with Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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

Pathways for genes affiliated with Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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GO Terms for genes affiliated with Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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Sources for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet