MCID: ALP016
MIFTS: 38

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

Summaries for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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NIH Rare Diseases:43 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 mental retardation and thalassemia, and has symptoms including cryptorchidism, male pseudohermaphroditism and ambiguous genitalia. An important gene associated with Alpha-Thalassemia X-Linked Intellectual Disability Syndrome is ATRX (alpha thalassemia/mental retardation syndrome X-linked). Affiliated tissues include kidney, testes and tongue.

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

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

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Sources:
21GeneReviews, 43NIH Rare Diseases, 23Genetics Home Reference, 22GeneTests, 49Orphanet, 45Novoseek, 24GTR, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

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

Name: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 21 43
Atr-X Syndrome 43 23 45 49 24
Alpha-Thalassemia - X-Linked Intellectual Disability Syndrome 43 22 49
Atrx Syndrome 21 43 23
Alpha Thalassemia X-Linked Intellectual Disability Syndrome 23 62
Alpha Thalassemia/mental Retardation, X-Linked 21 23
Xlmr-Hypotonic Face Syndrome 23 62
Alpha Thalassemia Mental Retardation Syndrome, Nondeletion Type, X-Linked 43
 
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 62
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type 23
X-Linked Alpha-Thalassemia/mental Retardation Syndrome 23
Alpha Thalassemia X-Linked Mental Retardation Syndrome 23
Alpha-Thalassemia X-Linked Mental Retardation Syndrome 23
Xlmr Hypotonic Face Syndrome 43
Atr, Nondeletion Type 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
atr-x syndrome:
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet49 847
ICD10 via Orphanet28 D56.0
UMLS via Orphanet63 C1845055

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mental retardation10.5
2thalassemia10.5
3mental retardation-hypotonic facies syndrome, x-linked10.5
4alpha-thalassemia/mental retardation syndrome10.3
5brachydactyly10.2
6pseudohermaphroditism10.2
7leukemia10.1

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:

 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

HPO human phenotypes related to Alpha-Thalassemia X-Linked Intellectual Disability Syndrome:

(show all 47)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 male pseudohermaphroditism hallmark (90%) HP:0000037
3 ambiguous genitalia hallmark (90%) HP:0000062
4 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
5 microcephaly hallmark (90%) HP:0000252
6 malar flattening hallmark (90%) HP:0000272
7 hypertelorism hallmark (90%) HP:0000316
8 neurological speech impairment hallmark (90%) HP:0002167
9 cognitive impairment hallmark (90%) HP:0100543
10 abnormality of the tongue typical (50%) HP:0000157
11 thick lower lip vermilion typical (50%) HP:0000179
12 everted lower lip vermilion typical (50%) HP:0000232
13 malar flattening typical (50%) HP:0000272
14 epicanthus typical (50%) HP:0000286
15 depressed nasal ridge typical (50%) HP:0000457
16 anteverted nares typical (50%) HP:0000463
17 telecanthus typical (50%) HP:0000506
18 autism typical (50%) HP:0000717
19 seizures typical (50%) HP:0001250
20 muscular hypotonia typical (50%) HP:0001252
21 talipes typical (50%) HP:0001883
22 short stature typical (50%) HP:0004322
23 hypoplasia of penis typical (50%) HP:0008736
24 abnormality of the heme biosynthetic pathway typical (50%) HP:0010472
25 recurrent urinary tract infections occasional (7.5%) HP:0000010
26 abnormality of the kidney occasional (7.5%) HP:0000077
27 abnormality of the teeth occasional (7.5%) HP:0000164
28 sensorineural hearing impairment occasional (7.5%) HP:0000407
29 visual impairment occasional (7.5%) HP:0000505
30 myopia occasional (7.5%) HP:0000545
31 optic atrophy occasional (7.5%) HP:0000648
32 brachydactyly syndrome occasional (7.5%) HP:0001156
33 flexion contracture occasional (7.5%) HP:0001371
34 limitation of joint mobility occasional (7.5%) HP:0001376
35 anemia occasional (7.5%) HP:0001903
36 nausea and vomiting occasional (7.5%) HP:0002017
37 constipation occasional (7.5%) HP:0002019
38 cerebral cortical atrophy occasional (7.5%) HP:0002120
39 aganglionic megacolon occasional (7.5%) HP:0002251
40 encephalitis occasional (7.5%) HP:0002383
41 volvulus occasional (7.5%) HP:0002580
42 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
43 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
44 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
45 feeding difficulties in infancy occasional (7.5%) HP:0008872
46 abnormality of movement occasional (7.5%) HP:0100022
47 self-injurious behavior occasional (7.5%) HP:0100716

Drugs & Therapeutics for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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Drug clinical trials:

Search ClinicalTrials for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

Search 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
Kidney, Testes, Tongue, 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 (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:

7 (show all 16)
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
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 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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Compounds 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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Products for genes affiliated with Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet