MCID: ALP016
MIFTS: 36

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Blood diseases, Mental diseases categories

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

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Sources:
21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome:

Name: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 21 45 22
Atr-X Syndrome 23 47 51 24
Atrx Syndrome 21 45 22 23
Alpha Thalassemia/mental Retardation, X-Linked 21 22 23
Xlmr Hypotonic Face Syndrome 45 22
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 65
Alpha Thalassemia Mental Retardation Syndrome, Nondeletion Type, X-Linked 45
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type 23
 
Alpha Thalassemia X-Linked Intellectual Disability Syndrome 23
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome 51
Alpha Thalassemia X-Linked Mental Retardation Syndrome 23
Alpha-Thalassemia X-Linked Mental Retardation Syndrome 23
X-Linked Alpha-Thalassemia/mental Retardation Syndrome 23
Xlmr-Hypotonic Face Syndrome 23
Atr, Nondeletion Type 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
atr-x syndrome:
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 847
ICD10 via Orphanet28 D56.0
UMLS via Orphanet66 C1845055

Summaries for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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NIH Rare Diseases:45 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 atr-x syndrome, is related to thalassemia and intellectual disability, and has symptoms including microcephaly, large fontanelle/delayed fontanelle closure and face/facial anomalies. An important gene associated with Alpha-Thalassemia X-Linked Intellectual Disability Syndrome is ATRX (Alpha Thalassemia/Mental Retardation Syndrome X-Linked), and among its related pathways is Chromatin Regulation / Acetylation. Affiliated tissues include testes, tongue and kidney.

Genetics Home Reference:23 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.

GeneReviews summary for xlmr

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thalassemia10.6
2intellectual disability10.6
3mental retardation-hypotonic facies syndrome, x-linked10.5
4alpha-thalassemia/mental retardation syndrome10.3
5brachydactyly10.2
6pseudohermaphroditism10.2
7leukemia10.1
8hemoglobin h disease, nondeletional9.8ATRX, HELLS
9alport syndrome and thin basement membrane nephropathy9.8ATRX, HELLS
10alpha-thalassemia myelodysplasia syndrome, somatic9.7ATRX, HELLS

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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Symptoms:

 51 (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 X-Linked Intellectual Disability Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 ATRX
2 Atr-X Syndrome24

Anatomical Context for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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MalaCards organs/tissues related to Alpha-Thalassemia X-Linked Intellectual Disability Syndrome:

33
Testes, Tongue, Kidney, Colon

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 identified by whole exome sequencing in two boys with white matter changes and developmental retardation. (25936994)
2015
2
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:

5 (show all 20)
id Gene Variation 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 variantPathogenicrs45439799GRCh37Chr 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
11ATRXNM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln)single nucleotide variantPathogenicrs122445101GRCh37Chr X, 76814252: 76814252
12ATRXATRX, 751A-Gsingle nucleotide variantPathogenic
13ATRXNM_000489.4(ATRX): c.568C> G (p.Pro190Ala)single nucleotide variantLikely pathogenic, Pathogenicrs122445103GRCh37Chr X, 76944337: 76944337
14ATRXATRX, ARG129CYSsingle nucleotide variantPathogenic
15ATRXNM_000489.4(ATRX): c.5225G> A (p.Arg1742Lys)single nucleotide variantPathogenicrs122445104GRCh37Chr X, 76875910: 76875910
16ATRXNM_000489.4(ATRX): c.736C> T (p.Arg246Cys)single nucleotide variantPathogenicrs122445105GRCh37Chr X, 76940012: 76940012
17ATRXNM_000489.4(ATRX): c.4862C> T (p.Thr1621Met)single nucleotide variantPathogenicrs122445106GRCh37Chr X, 76889148: 76889148
18ATRXNM_000489.4(ATRX): c.109C> T (p.Arg37Ter)single nucleotide variantPathogenicrs122445108GRCh37Chr X, 76972632: 76972632
19ATRXNM_000489.4(ATRX): c.7366_7367delAT (p.Met2456Glufs)deletionLikely pathogenicrs797044723GRCh37Chr X, 76763941: 76763942
20ATRXNM_000489.4(ATRX): c.4626_4631delTGAAGA (p.Asp1542_Glu1543del)deletionLikely pathogenicrs797045406GRCh38Chr X, 77635983: 77635988

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

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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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Pathways related to Alpha-Thalassemia X-Linked Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ATRX, HELLS

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

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Biological processes related to Alpha-Thalassemia X-Linked Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA methylationGO:00063069.1ATRX, HELLS

Molecular functions related to Alpha-Thalassemia X-Linked Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1helicase activityGO:00043869.2ATRX, HELLS
2chromatin bindingGO:00036829.1ATRX, HELLS

Sources for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet