MCID: ALP014
MIFTS: 53

Alpha-Thalassemia/mental Retardation Syndrome malady

Genetic diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Blood diseases, Rare diseases, Mental diseases categories
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Summaries for Alpha-Thalassemia/mental Retardation Syndrome

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21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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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.

MalaCards: Alpha-Thalassemia/mental Retardation Syndrome, also known as alpha-thalassemia/mental retardation syndrome, nondeletion type, x-linked, is related to mental retardation and intellectual disability, and has symptoms including face/facial anomalies, talipes-varus/metatarsal varus and hemoglobinosis/hemoglobinopathy. An important gene associated with Alpha-Thalassemia/mental Retardation Syndrome is ATRX (alpha thalassemia/mental retardation syndrome X-linked), and among its related pathways are Post NMDA receptor activation events and Transcription CREB pathway. The compounds p003 and hpaii have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and kidney, and related mouse phenotypes are adipose tissue and no phenotypic analysis.

Wikipedia:65 Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental... more...

Description from OMIM:47 301040

Aliases & Classifications for Alpha-Thalassemia/mental Retardation Syndrome

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49Orphanet, 47OMIM, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
alpha-thalassemia - x-linked intellectual disability syndrome:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

alpha-thalassemia/mental retardation syndrome 47
alpha-thalassemia/mental retardation syndrome, nondeletion type, x-linked 62
alpha-thalassemia - x-linked intellectual disability syndrome 49
alpha thalassemia-mental retardation syndrome 62
atr-x syndrome 49


External Ids:

OMIM47 301040
ICD10 via Orphanet26 D56.0
SNOMED-CT via Orphanet59 277918006
UMLS via Orphanet63 C1845055

Related Diseases for Alpha-Thalassemia/mental Retardation Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Alpha-Thalassemia/mental Retardation Syndrome:



Diseases related to alpha-thalassemia/mental retardation syndrome

Symptoms for Alpha-Thalassemia/mental Retardation Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

301040

Clinical features from OMIM:

301040

Symptoms:

49 (show all 55)
  • face/facial anomalies
  • talipes-varus/metatarsal varus
  • hemoglobinosis/hemoglobinopathy
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • flat face
  • autism/autistic disoders
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • x-linked recessive inheritance
  • recurrent urinary infections
  • death in infancy
  • short hand/brachydactyly
  • telecanthus/canthal dystopy
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • myopia
  • colonic/intestinal volvulus
  • male pseudohermaphrodism/lack of virilisation
  • ambiguous genitalia
  • structural anomalies of the genital system
  • everted lower lip
  • large fontanelle/delayed fontanelle closure
  • clinodactyly of fifth finger
  • micropenis/small penis/agenesis
  • renal/kidney anomalies
  • flattened nose
  • epicanthic folds
  • anaemia
  • auto-aggressivity/auto-mutilation
  • hypotonia
  • encephalitis
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • constipation
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • corpus callosum/septum pellucidum total/partial agenesis
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • psychic/behavioural troubles
  • mid-facial hypoplasia/short/small midface
  • movement disorder
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • visual loss/blindness/amblyopia
  • microcephaly
  • short stature/dwarfism/nanism
  • sensorineural deafness/hearing loss
  • anteverted nares/nostrils
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • restricted joint mobility/joint stiffness/ankylosis
  • anomalies of teeth and dentition
  • thick lips
  • hypertelorism

Drugs & Therapeutics for Alpha-Thalassemia/mental Retardation Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Alpha-Thalassemia/mental Retardation Syndrome

Search NIH Clinical Center for Alpha-Thalassemia/mental Retardation Syndrome

Genetic Tests for Alpha-Thalassemia/mental Retardation Syndrome

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Anatomical Context for Alpha-Thalassemia/mental Retardation Syndrome

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33MalaCards
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MalaCards organs/tissues related to Alpha-Thalassemia/mental Retardation Syndrome:

33
Eye, Testes, Kidney, Tongue, Colon

Animal Models for Alpha-Thalassemia/mental Retardation Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9CREBBP, RPS6KA3, MECP2
2MP:00030128.4NSD1, MECP2, RPS6KA3, WT1
3MP:00053898.4ATRX, MECP2, RPS6KA3, WT1
4MP:00053888.3MECP2, RPS6KA3, CREBBP, WT1
5MP:00053858.2WT1, CREBBP, RPS6KA3, ATRX
6MP:00053798.2MECP2, RPS6KA3, CREBBP, WT1
7MP:00053787.9WT1, CREBBP, RPS6KA3, MECP2, ATRX
8MP:00053807.9WT1, CREBBP, MECP2, NSD1, ATRX
9MP:00107687.4ATRX, NSD1, MECP2, CREBBP, WT1

Publications for Alpha-Thalassemia/mental Retardation Syndrome

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52PubMed
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Articles related to Alpha-Thalassemia/mental Retardation Syndrome:

(show all 20)
idTitleAuthorsYear
1
Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress. (23329831)
2013
2
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability. (20500465)
2010
3
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome. (20602808)
2010
4
X-linked alpha-thalassemia/mental retardation syndrome]. (19489441)
2009
5
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. (18076105)
2008
6
Alpha-thalassemia/mental retardation syndrome in a 45,X male. (15633163)
2005
7
Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X. (16100724)
2005
8
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). (12032728)
2002
9
Molecular genetic study of Japanese patients with X-linked alpha- thalassemia/mental retardation syndrome (ATR-X). (10995512)
2000
10
A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer. (9363663)
1997
11
A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report. (8996969)
1996
12
The alpha-thalassemia/mental retardation syndromes. (8606626)
1996
13
Self-induced vomiting in X-linked alpha-thalassemia/mental retardation syndrome. (8967323)
1996
14
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? (7726226)
1995
15
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). (7726225)
1995
16
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). (8460633)
1993
17
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq. (8166423)
1993
18
Alpha-thalassemia/mental retardation syndrome often confused with other disorders. (1456302)
1992
19
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. (2339705)
1990
20
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. (2339704)
1990

Variations for Alpha-Thalassemia/mental Retardation Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome:

64 (show all 28)
id Symbol AA change Variation ID SNP ID
1ATRXp.Pro190AlaVAR_001226
2ATRXp.Leu192PheVAR_001227
3ATRXp.Cys200SerVAR_001228
4ATRXp.Cys220ArgVAR_001229
5ATRXp.Trp222SerVAR_001230
6ATRXp.Cys243PheVAR_001231
7ATRXp.Arg246CysVAR_001232
8ATRXp.Gly249AspVAR_001233
9ATRXp.His1609ArgVAR_001234
10ATRXp.Cys1614ArgVAR_001235
11ATRXp.Lys1650AsnVAR_001236
12ATRXp.Asp2035ValVAR_001238
13ATRXp.Tyr2084HisVAR_001239
14ATRXp.Tyr2163CysVAR_001241
15ATRXp.Arg246LeuVAR_010914
16ATRXp.Gly175GluVAR_012113
17ATRXp.Asn179SerVAR_012115
18ATRXp.Pro190LeuVAR_012116
19ATRXp.Pro190SerVAR_012117
20ATRXp.Val194IleVAR_012118
21ATRXp.Gln219ProVAR_012119
22ATRXp.Gly249CysVAR_012120
23ATRXp.Val1552PheVAR_012122
24ATRXp.Leu1645SerVAR_012123
25ATRXp.Pro1713SerVAR_012124
26ATRXp.Arg1742LysVAR_012125
27ATRXp.Tyr1847CysVAR_012126
28ATRXp.Thr1621MetVAR_016916

Clinvar genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome:

1 (show all 16)
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.7156C> T (p.Arg2386Ter)single nucleotide variantPathogenicrs122445099GRCh37Chr X, 76776310: 76776310
9ATRXNM_000489.4(ATRX): c.7162G> T (p.Glu2388Ter)single nucleotide variantPathogenicrs122445100GRCh37Chr X, 76776304: 76776304
10ATRXATRX, IVSAS, T-A, -10single nucleotide variantPathogenic
11ATRXATRX, 751A-Gsingle nucleotide variantPathogenic
12ATRXNM_000489.4(ATRX): c.568C> G (p.Pro190Ala)single nucleotide variantPathogenicrs122445103GRCh37Chr X, 76944337: 76944337
13ATRXATRX, ARG129CYSsingle nucleotide variantPathogenic
14ATRXNM_000489.4(ATRX): c.5225G> A (p.Arg1742Lys)single nucleotide variantPathogenicrs122445104GRCh37Chr X, 76875910: 76875910
15ATRXNM_000489.4(ATRX): c.736C> T (p.Arg246Cys)single nucleotide variantPathogenicrs122445105GRCh37Chr X, 76940012: 76940012
16ATRXNM_000489.4(ATRX): c.4862C> T (p.Thr1621Met)single nucleotide variantPathogenicrs122445106GRCh37Chr X, 76889148: 76889148

Expression for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

Search GEO for disease gene expression data for Alpha-Thalassemia/mental Retardation Syndrome.

Pathways for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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50PathCards, 55Reactome, 30KEGG, 60Thomson Reuters, 5Cell Signaling Technology, 38NCBI BioSystems Database
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Compounds for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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45Novoseek, 24HMDB, 61Tocris Bioscience, 11DrugBank
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Compounds related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1p003459.4CREBBP, MECP2
2hpaii459.3WT1, MECP2
3cytosine45 2410.0WT1, MECP2, ATRX
4alanine459.0CREBBP, RPS6KA3, MECP2
5lysine458.7WT1, CREBBP, RPS6KA3
6testosterone45 61 24 1111.6MECP2, CREBBP, WT1
7arginine458.5WT1, CREBBP, MECP2
8zinc45 249.4ATRX, MECP2, CREBBP, WT1
9threonine458.3RPS6KA3, CREBBP, WT1

GO Terms for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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16Gene Ontology
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Biological processes related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone methylationGO:0165719.4MECP2, NSD1
2response to hypoxiaGO:0016669.4CREBBP, MECP2
3histone acetylationGO:0165739.1CREBBP, MECP2
4positive regulation of transcription, DNA-templatedGO:0458938.1WT1, CREBBP, MECP2, NSD1
5negative regulation of transcription from RNA polymerase II promoterGO:0001228.1NSD1, MECP2, CREBBP, WT1

Molecular functions related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036828.2CREBBP, MECP2, NSD1, ATRX
2zinc ion bindingGO:0082708.1WT1, CREBBP, NSD1, ATRX

Products for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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Sources for Alpha-Thalassemia/mental Retardation Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet