MCID: ALP016
MIFTS: 22

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome malady

Neuronal diseases, Blood diseases categories

Summaries for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome, also known as atrx syndrome, is related to alpha-thalassemia/mental retardation syndrome and alpha thalassemia. An important gene associated with Alpha-Thalassemia X-Linked Intellectual Disability Syndrome is ATRX (alpha thalassemia/mental retardation syndrome X-linked).

Genetics Home Reference:21 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 xlmr

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

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 22GTR, 44Novoseek, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Blood diseases


Aliases & Descriptions:

alpha-thalassemia x-linked intellectual disability syndrome 19 42 20
atrx syndrome 19 42 22 21
alpha-thalassemia x-linked mental retardation syndrome 19 21
alpha thalassemia/mental retardation, x-linked 19 21
xlmr-hypotonic face syndrome 19 21
atr-x syndrome 21 44
alpha thalassemia mental retardation syndrome, nondeletion type, x-linked 42
alpha-thalassemia/mental retardation syndrome, nondeletion type, x-linked 60
alpha-thalassemia/mental retardation syndrome, nondeletion type 21
alpha thalassemia x-linked intellectual disability syndrome 21
x-linked alpha-thalassemia/mental retardation syndrome 21
alpha thalassemia x-linked mental retardation syndrome 21
xlmr hypotonic face syndrome 42
atr, nondeletion type 42


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

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17GeneCards, 18GeneDecks
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Diseases related to Alpha-Thalassemia X-Linked Intellectual Disability Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1alpha-thalassemia/mental retardation syndrome10.6
2alpha thalassemia10.4
3intellectual disability10.4
4thalassemia10.4
5mental retardation-hypotonic facies syndrome, x-linked10.4
6brachydactyly10.1
7pseudohermaphroditism10.1
8leukemia10.0

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



Diseases related to alpha-thalassemia x-linked intellectual disability syndrome

Clinical Features for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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

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20GeneTests, 22GTR
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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 Syndrome20 ATRX
2 Atr-X Syndrome22

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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50PubMed
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Articles related to Alpha-Thalassemia X-Linked Intellectual Disability Syndrome:

idTitleAuthorsYear
1
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome (20301622)
1993

Genetic 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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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet