MCID: ALP014
MIFTS: 52

Alpha-Thalassemia/mental Retardation Syndrome malady

Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Blood diseases categories

Summaries for Alpha-Thalassemia/mental Retardation Syndrome

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental... more...

MalaCards: Alpha-Thalassemia/mental Retardation Syndrome, also known as alpha-thalassemia/mental retardation syndrome, nondeletion type, x-linked, is related to alpha thalassemia and alpha-thalassemia x-linked intellectual disability syndrome, and has symptoms including corpus callosum/septum pellucidum total/partial agenesis, feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia and nausea/vomiting/regurgitation/merycism/hyperemesis. 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 Development Ligand-dependent activation of the ESR1/AP-1 pathway and Chromatin Regulation / Acetylation. The compounds hpaii and cytosine have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and kidney, and related mouse phenotypes are integument and embryogenesis.

Description from OMIM:46 301040

Aliases & Classifications for Alpha-Thalassemia/mental Retardation Syndrome

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46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
alpha-thalassemia - x-linked intellectual deficit syndrome:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

alpha-thalassemia/mental retardation syndrome 46
alpha-thalassemia/mental retardation syndrome, nondeletion type, x-linked 60
alpha-thalassemia - x-linked intellectual deficit syndrome 48
alpha thalassemia-mental retardation syndrome 60
atr-x syndrome 48


External Ids:

OMIM46 301040
ICD10 via Orphanet26 D56.0
SNOMED-CT via Orphanet57 277918006

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

Clinical Features for Alpha-Thalassemia/mental Retardation Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

301040

Clinical synopsis from OMIM:

301040

Symptoms:

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

Drugs & Therapeutics for Alpha-Thalassemia/mental Retardation Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Alpha-Thalassemia/mental Retardation Syndrome

Drug clinical trials:

Search ClinicalTrials for Alpha-Thalassemia/mental Retardation Syndrome

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

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Alpha-Thalassemia/mental Retardation Syndrome:

32
Eye, Testes, Kidney, Colon, Tongue

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

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36MGI
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MGI Mouse Phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001077110.0MECP2
2MP:00053809.4MECP2, HELLS
3MP:00053889.2CREBBP, RPS6KA3, MECP2
4MP:00053758.3CREBBP, MECP2, HELLS, RPS6KA3
5MP:00030128.2MECP2, RPS6KA3, NSD1, WT1
6MP:00053978.1HBA2, CREBBP, WT1, RPS6KA3, HELLS
7MP:00053847.6HBA2, ATRX, MECP2, CREBBP, WT1, HELLS
8MP:00053787.4HBA2, RPS6KA3, HELLS, WT1, CREBBP, MECP2
9MP:00053767.4RPS6KA3, HELLS, WT1, CREBBP, HBA2, ATRX
10MP:00107687.2CREBBP, WT1, ATRX, NSD1, HELLS, HBA2

Publications for Alpha-Thalassemia/mental Retardation Syndrome

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Genetic Variations for Alpha-Thalassemia/mental Retardation Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome:

62 (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

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

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1BioGPS, 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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12EMD Millipore, 51QIAGEN, 4Cell Signaling Technology
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Pathways related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Development Ligand-dependent activation of the ESR1/AP-1 pathway
Hide members
9.2CREBBP, HELLS
28.7MECP2, CREBBP, HELLS

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

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 28IUPHAR
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Compounds related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1hpaii449.8WT1, MECP2
2cytosine44 2410.6ATRX, MECP2, WT1
3butyrate449.3HBA2, CREBBP, WT1
4thymine44 2410.3CREBBP, HELLS
5histidine449.0HELLS, CREBBP, WT1
6glutamine448.9HELLS, WT1, CREBBP
7proline448.8CREBBP, HELLS, WT1, HBA2
8lysine448.7RPS6KA3, CREBBP, WT1, HELLS
9methionine448.7CREBBP, MECP2, HBA2, HELLS
10doxorubicin44 49 1110.6CREBBP, WT1, HELLS
11oligonucleotide448.6HBA2, MECP2, WT1, HELLS
12arginine448.5MECP2, CREBBP, WT1, HELLS
13threonine448.4RPS6KA3, WT1, CREBBP, HBA2, HELLS
14zinc44 249.4MECP2, WT1, HELLS, ATRX, CREBBP
15atp44 289.3ATRX, CREBBP, HELLS, RPS6KA3, HBA2
16alanine448.2HELLS, HBA2, MECP2, CREBBP, RPS6KA3
17tyrosine448.0RPS6KA3, CREBBP, HELLS, WT1, HBA2

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 acetylationGO:0165739.5CREBBP, MECP2
2histone methylationGO:0165719.3MECP2, NSD1
3positive regulation of transcription, DNA-dependentGO:0458938.5NSD1, WT1, CREBBP, MECP2
4negative regulation of transcription from RNA polymerase II promoterGO:0001228.3MECP2, NSD1, WT1, CREBBP

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

idNameGO IDScoreTop Affiliating Genes
1helicase activityGO:0043869.3ATRX, HELLS
2chromatin bindingGO:0036827.5ATRX, MECP2, CREBBP, HELLS, NSD1

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-Thalassemia/mental Retardation 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