MCID: ALP014
MIFTS: 42

Alpha-Thalassemia/mental Retardation Syndrome malady

Neuronal, Reproductive, Endocrine, Fetal, Blood categories

Summaries for Alpha-Thalassemia/mental Retardation Syndrome

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 thalassemia, and has symptoms including microcephaly, large fontanelle/delayed fontanelle closure and face/facial anomalies. 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. Related mouse phenotypes are integument and embryogenesis.

Description from OMIM:47 301040

Aliases & Classifications for Alpha-Thalassemia/mental Retardation Syndrome

Sources:
49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Reproductive, Endocrine, Blood


Characteristics (Orphanet epidemiological data):

49
alpha-thalassemia - x-linked intellectual deficit 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 61
alpha-thalassemia - x-linked intellectual deficit syndrome 49
alpha thalassemia-mental retardation syndrome 61
atr-x syndrome 49


External Ids:

OMIM47 301040
ICD10 via Orphanet26 D56.0

Related Diseases for Alpha-Thalassemia/mental Retardation Syndrome

Sources:
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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

301040

Clinical synopsis from OMIM:

301040

Symptoms:

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

Drugs & Therapeutics for Alpha-Thalassemia/mental Retardation Syndrome

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Alpha-Thalassemia/mental Retardation Syndrome

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Alpha-Thalassemia/mental Retardation Syndrome

Sources:
51PubMed
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Articles related to Alpha-Thalassemia/mental Retardation Syndrome:

(show all 25)
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
The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea. (21218045)
2011
3
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability. (20500465)
2010
4
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome. (20602808)
2010
5
X-linked alpha-thalassemia/mental retardation syndrome]. (19489441)
2009
6
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. (18076105)
2008
7
Alpha-thalassemia/mental retardation syndrome in a 45,X male. (15633163)
2005
8
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
9
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). (12032728)
2002
10
Molecular genetic study of Japanese patients with X-linked alpha- thalassemia/mental retardation syndrome (ATR-X). (10995512)
2000
11
A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer. (9363663)
1997
12
A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report. (8996969)
1996
13
The alpha-thalassemia/mental retardation syndromes. (8606626)
1996
14
Self-induced vomiting in X-linked alpha-thalassemia/mental retardation syndrome. (8967323)
1996
15
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? (7726226)
1995
16
Mutations in a putative global transcriptional regulator cause X- linked mental retardation with alpha-thalassemia (ATR-X syndrome). (7697714)
1995
17
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). (7726225)
1995
18
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. (7726227)
1995
19
Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome. (7726224)
1995
20
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). (8460633)
1993
21
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq. (8166423)
1993
22
Alpha-thalassemia/mental retardation syndrome often confused with other disorders. (1456302)
1992
23
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. (1415255)
1992
24
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. (2339705)
1990
25
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. (2339704)
1990

Genetic Variations for Alpha-Thalassemia/mental Retardation Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome:

63 (show all 28)
id Symbol AA change Variation 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

Sources:
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

Sources:
12EMD Millipore, 52QIAGEN, 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

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank, 29IUPHAR
See all sources

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

(show all 17)
idCompoundScoreTop Affiliating Genes
1hpaii459.8MECP2, WT1
2cytosine45 2410.6ATRX, MECP2, WT1
3butyrate459.3HBA2, CREBBP, WT1
4thymine45 2410.3HELLS, CREBBP
5histidine459.0CREBBP, WT1, HELLS
6glutamine458.9CREBBP, WT1, HELLS
7proline458.8HELLS, WT1, CREBBP, HBA2
8lysine458.7RPS6KA3, HELLS, WT1, CREBBP
9methionine458.7HBA2, MECP2, CREBBP, HELLS
10doxorubicin45 50 1110.6CREBBP, WT1, HELLS
11oligonucleotide458.6HELLS, WT1, MECP2, HBA2
12arginine458.5HELLS, WT1, CREBBP, MECP2
13threonine458.4HBA2, CREBBP, WT1, HELLS, RPS6KA3
14zinc45 249.4HELLS, WT1, CREBBP, MECP2, ATRX
15atp45 299.3HBA2, ATRX, CREBBP, HELLS, RPS6KA3
16alanine458.2RPS6KA3, HELLS, CREBBP, MECP2, HBA2
17tyrosine458.0RPS6KA3, HELLS, WT1, CREBBP, HBA2

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

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1histone acetylationGO:0165739.5MECP2, CREBBP
2histone methylationGO:0165719.3MECP2, NSD1
3positive regulation of transcription, DNA-dependentGO:0458938.5MECP2, CREBBP, WT1, NSD1
4negative regulation of transcription from RNA polymerase II promoterGO:0001228.3NSD1, WT1, CREBBP, MECP2

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-Thalassemia/mental Retardation Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet