MCID: ALP016
MIFTS: 29

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Blood diseases, Mental diseases

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, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

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

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 847
ICD10 via Orphanet28 D56.0
UMLS via Orphanet66 C1845055
UMLS65 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 atrx syndrome, is related to alpha-thalassemia/mental retardation syndrome and thalassemia, 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). Affiliated tissues include testes, colon 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 NBK1449

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
1alpha-thalassemia/mental retardation syndrome11.5
2thalassemia10.4
3intellectual disability10.4
4leukemia9.8

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

UMLS symptoms related to Alpha-Thalassemia X-Linked Intellectual Disability Syndrome:


constipation

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

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, Colon, Kidney, Tongue, Thyroid

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

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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