MCID: ALP016
MIFTS: 22

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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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 based summary: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome, also known as atrx syndrome, is related to alpha-thalassemia/mental retardation syndrome and mental retardation. 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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Alpha-Thalassemia X-Linked Intellectual Disability Syndrome, Aliases & Descriptions:

Name: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 20 42 21
Atrx Syndrome 20 42 23 22
Alpha Thalassemia X-Linked Intellectual Disability Syndrome 22 61
Alpha Thalassemia/mental Retardation, X-Linked 20 22
Xlmr-Hypotonic Face Syndrome 22 61
Atr-X Syndrome 22 44
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 61
 
Alpha Thalassemia Mental Retardation Syndrome, Nondeletion Type, X-Linked 42
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type 22
Alpha Thalassemia X-Linked Mental Retardation Syndrome 22
X-Linked Alpha-Thalassemia/mental Retardation Syndrome 22
Alpha-Thalassemia X-Linked Mental Retardation Syndrome 22
Xlmr Hypotonic Face Syndrome 42
Atr, Nondeletion Type 42


Classifications:



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/GeneDecks gene sharing:

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

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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Drug clinical trials:

Search ClinicalTrials for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

Search 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 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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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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Clinvar genetic disease variations for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome:

7
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.6104A> T (p.Asp2035Val)single nucleotide variantPathogenicrs122445096GRCh37Chr X, 76849172: 76849172
5ATRXNM_000489.4(ATRX): c.6250T> C (p.Tyr2084His)single nucleotide variantPathogenicrs122445097GRCh37Chr X, 76829791: 76829791
6ATRXNM_000489.4(ATRX): c.6488A> G (p.Tyr2163Cys)single nucleotide variantPathogenicrs122445098GRCh37Chr X, 76814156: 76814156
7ATRXNM_000489.4(ATRX): c.568C> G (p.Pro190Ala)single nucleotide variantPathogenicrs122445103GRCh37Chr X, 76944337: 76944337
8ATRXNM_000489.4(ATRX): c.5225G> A (p.Arg1742Lys)single nucleotide variantPathogenicrs122445104GRCh37Chr X, 76875910: 76875910
9ATRXNM_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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Expression patterns in normal tissues for genes affiliated with Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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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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
  • Proteins
  • Kits and Assays

Sources for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet