MCID: ALP016
MIFTS: 23

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases, Mental diseases categories

Summaries for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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44NIH Rare Diseases, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 mental retardation and alpha thalassemia. An important gene associated with Alpha-Thalassemia X-Linked Intellectual Disability Syndrome is ATRX (alpha thalassemia/mental retardation syndrome X-linked).

GeneReviews summary for xlmr

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

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 23GTR, 46Novoseek, 63UMLS
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Classifications:



Aliases & Descriptions:

alpha-thalassemia x-linked intellectual disability syndrome 20 44 21
atrx syndrome 20 44 23 22
alpha-thalassemia x-linked mental retardation syndrome 20 22
alpha thalassemia/mental retardation, x-linked 20 22
xlmr-hypotonic face syndrome 20 22
atr-x syndrome 22 46
alpha thalassemia mental retardation syndrome, nondeletion type, x-linked 44
alpha-thalassemia/mental retardation syndrome, nondeletion type, x-linked 63
alpha-thalassemia/mental retardation syndrome, nondeletion type 22
alpha thalassemia x-linked intellectual disability syndrome 22
x-linked alpha-thalassemia/mental retardation syndrome 22
alpha thalassemia x-linked mental retardation syndrome 22
xlmr hypotonic face syndrome 44
atr, nondeletion type 44


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

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18GeneCards, 19GeneDecks
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Diseases related to Alpha-Thalassemia X-Linked Intellectual Disability Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation10.5
2alpha thalassemia10.5
3intellectual disability10.5
4thalassemia10.5
5alpha-thalassemia/mental retardation syndrome10.5
6juberg marsidi syndrome10.5
7mental retardation-hypotonic facies syndrome, x-linked10.5
8faces syndrome10.4
9brachydactyly10.2
10pseudohermaphroditism10.2
11leukemia10.1

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



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

Symptoms 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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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 Syndrome21 ATRX
2 Atr-X Syndrome23

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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53PubMed
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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

Variations for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1ATRXNM_000489.4(ATRX): c.4826A> G (p.His1609Arg)single nucleotide variantPathogenicrs122445093GRCh37Chr X, 76889184: 76889184
2ATRXNM_000489.4(ATRX): c.4840T> C (p.Cys1614Arg)single nucleotide variantPathogenicrs122445094GRCh37Chr X, 76889170: 76889170
3ATRXNM_000489.4(ATRX): c.4950G> T (p.Lys1650Asn)single nucleotide variantPathogenicrs122445095GRCh37Chr X, 76889060: 76889060
4ATRXNM_000489.4(ATRX): c.5579A> G (p.Asn1860Ser)single nucleotide variantBenign, Pathogenicrs45439799GRCh37Chr X, 76856021: 76856021
5ATRXNM_000489.4(ATRX): c.6104A> T (p.Asp2035Val)single nucleotide variantPathogenicrs122445096GRCh37Chr X, 76849172: 76849172
6ATRXNM_000489.4(ATRX): c.6250T> C (p.Tyr2084His)single nucleotide variantPathogenicrs122445097GRCh37Chr X, 76829791: 76829791
7ATRXNM_000489.4(ATRX): c.6488A> G (p.Tyr2163Cys)single nucleotide variantPathogenicrs122445098GRCh37Chr X, 76814156: 76814156
8ATRXNM_000489.4(ATRX): c.568C> G (p.Pro190Ala)single nucleotide variantPathogenicrs122445103GRCh37Chr X, 76944337: 76944337
9ATRXNM_000489.4(ATRX): c.5225G> A (p.Arg1742Lys)single nucleotide variantPathogenicrs122445104GRCh37Chr X, 76875910: 76875910
10ATRXNM_000489.4(ATRX): c.736C> T (p.Arg246Cys)single nucleotide variantPathogenicrs122445105GRCh37Chr X, 76940012: 76940012
11ATRXNM_000489.4(ATRX): c.4862C> T (p.Thr1621Met)single nucleotide variantPathogenicrs122445106GRCh37Chr X, 76889148: 76889148

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

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2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet