MCID: ALP014
MIFTS: 51

Alpha-Thalassemia/mental Retardation Syndrome malady

Categories: Genetic diseases (common), Neuronal diseases, Blood diseases, Mental diseases

Aliases & Classifications for Alpha-Thalassemia/mental Retardation Syndrome

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Aliases & Descriptions for Alpha-Thalassemia/mental Retardation Syndrome:

Name: Alpha-Thalassemia/mental Retardation Syndrome 49 11 24
Atr-X 67 24
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 65
Alpha-Thalassemia/mental Retardation Syndrome Non-Deletion Type X-Linked 67
Alpha-Thalassemia Mental Retardation Syndrome, X-Linked 67
 
Alpha Thalassemia-Mental Retardation Syndrome 65
Atr Nondeletion Type 67
Atr-X Syndrome 67
Atrx 67

Characteristics:

HPO:

61
alpha-thalassemia/mental retardation syndrome:
Onset and clinical course: phenotypic variability
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 301040
MedGen34 C1845055
MeSH36 D038901
UMLS65 C0475813, C1845055

Summaries for Alpha-Thalassemia/mental Retardation Syndrome

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UniProtKB/Swiss-Prot:67 Alpha-thalassemia mental retardation syndrome, X-linked: A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions.

MalaCards based summary: Alpha-Thalassemia/mental Retardation Syndrome, also known as atr-x, is related to mental retardation-hypotonic facies syndrome, x-linked and alpha-thalassemia x-linked intellectual disability syndrome, and has symptoms including cognitive impairment, neurological speech impairment and hypertelorism. 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 Homologous recombination and BRCA1 Pathway. Affiliated tissues include eye, tongue and kidney, and related mouse phenotypes are pigmentation and tumorigenesis.

Wikipedia:68 Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental... more...

Description from OMIM:49 301040

Related Diseases for Alpha-Thalassemia/mental Retardation Syndrome

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Diseases related to Alpha-Thalassemia/mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation-hypotonic facies syndrome, x-linked31.3ATRX, PQBP1
2alpha-thalassemia x-linked intellectual disability syndrome12.0
3alpha-thalassemia-intellectual disability syndrome linked to chromosome 1611.7
4endometriosis11.3
5hiv-111.1
6multiple sclerosis, disease progression, modifier of11.1
7hereditary spastic paraplegia11.1
8spastic cerebral palsy11.1
9pulmonary tuberculosis11.1
10creutzfeldt-jakob disease10.4
11becker muscular dystrophy10.4
12cataract10.4
13hemolytic anemia10.4
14fragile x-associated tremor/ataxia syndrome10.4
15amblyopia10.4
16gender identity disorder10.4
17graves' disease10.4
18lagophthalmos10.4
19chronic wasting disease10.4
20pituitary adenoma10.4
21scrapie10.4
22adenoma10.4
23achalasia10.4
24senile cataract10.4
25muscular dystrophy10.4
26spastic paraparesis10.4
27ataxia10.4
28febrile seizures10.4
29spasticity10.4
30tremor10.4
31wilson-turner syndrome10.1ATRX, PQBP1
32non-syndromic intellectual disability10.1ATRX, PQBP1
33hemoglobin h disease, nondeletional10.1ATRX, HELLS
34tarp syndrome10.1ATRX, PQBP1
35olmsted syndrome, x-linked10.0ATRX, PQBP1
36opitz-gbbb syndrome10.0ATRX, PQBP1
37autoimmune disease of skin and connective tissue9.9ATRX, PQBP1
38qazi markouizos syndrome9.8ATRX, NBN
39alzheimer disease 129.6HELLS, NBN, XRCC5
40cd40 ligand deficiency9.6NBN, PRKDC, XRCC5
41short-rib thoracic dysplasia 3 with or without polydactyly9.5NBN, PRKDC, XRCC5
42alpha-thalassemia myelodysplasia syndrome, somatic8.4ATRX, HELLS, NBN, PQBP1, PRKDC, RAD9A

Graphical network of the top 20 diseases related to Alpha-Thalassemia/mental Retardation Syndrome:



Diseases related to alpha-thalassemia/mental retardation syndrome

Symptoms for Alpha-Thalassemia/mental Retardation Syndrome

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Symptoms by clinical synopsis from OMIM:

301040

Clinical features from OMIM:

301040

HPO human phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome:

(show all 90)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 neurological speech impairment hallmark (90%) HP:0002167
3 hypertelorism hallmark (90%) HP:0000316
4 malar flattening hallmark (90%) HP:0000272
5 microcephaly hallmark (90%) HP:0000252
6 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
7 ambiguous genitalia hallmark (90%) HP:0000062
8 male pseudohermaphroditism hallmark (90%) HP:0000037
9 cryptorchidism hallmark (90%) HP:0000028
10 abnormality of the heme biosynthetic pathway typical (50%) HP:0010472
11 hypoplasia of penis typical (50%) HP:0008736
12 short stature typical (50%) HP:0004322
13 talipes typical (50%) HP:0001883
14 muscular hypotonia typical (50%) HP:0001252
15 seizures typical (50%) HP:0001250
16 autism typical (50%) HP:0000717
17 telecanthus typical (50%) HP:0000506
18 anteverted nares typical (50%) HP:0000463
19 depressed nasal ridge typical (50%) HP:0000457
20 epicanthus typical (50%) HP:0000286
21 malar flattening typical (50%) HP:0000272
22 everted lower lip vermilion typical (50%) HP:0000232
23 thick lower lip vermilion typical (50%) HP:0000179
24 abnormality of the tongue typical (50%) HP:0000157
25 seizures frequent (33%) HP:0001250
26 self-injurious behavior occasional (7.5%) HP:0100716
27 abnormality of movement occasional (7.5%) HP:0100022
28 feeding difficulties in infancy occasional (7.5%) HP:0008872
29 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
30 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
31 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
32 volvulus occasional (7.5%) HP:0002580
33 encephalitis occasional (7.5%) HP:0002383
34 aganglionic megacolon occasional (7.5%) HP:0002251
35 cerebral cortical atrophy occasional (7.5%) HP:0002120
36 constipation occasional (7.5%) HP:0002019
37 nausea and vomiting occasional (7.5%) HP:0002017
38 limitation of joint mobility occasional (7.5%) HP:0001376
39 flexion contracture occasional (7.5%) HP:0001371
40 brachydactyly syndrome occasional (7.5%) HP:0001156
41 optic atrophy occasional (7.5%) HP:0000648
42 myopia occasional (7.5%) HP:0000545
43 visual impairment occasional (7.5%) HP:0000505
44 sensorineural hearing impairment occasional (7.5%) HP:0000407
45 abnormality of the teeth occasional (7.5%) HP:0000164
46 abnormality of the kidney occasional (7.5%) HP:0000077
47 recurrent urinary tract infections occasional (7.5%) HP:0000010
48 clinodactyly HP:0030084
49 reduced alpha/beta synthesis ratio HP:0011907
50 perimembranous ventricular septal defect HP:0011682
51 protruding tongue HP:0010808
52 u-shaped upper lip vermilion HP:0010806
53 radial deviation of finger HP:0009466
54 infantile muscular hypotonia HP:0008947
55 postnatal growth retardation HP:0008897
56 microtia HP:0008551
57 depressed nasal bridge HP:0005280
58 hypochromic microcytic anemia HP:0004840
59 short nose HP:0003196
60 hemivertebrae HP:0002937
61 kyphoscoliosis HP:0002751
62 absent frontal sinuses HP:0002688
63 coxa valga HP:0002673
64 cerebral atrophy HP:0002059
65 gastroesophageal reflux HP:0002020
66 constipation HP:0002019
67 abnormality of metabolism/homeostasis HP:0001939
68 talipes equinovarus HP:0001762
69 widely-spaced maxillary central incisors HP:0001566
70 umbilical hernia HP:0001537
71 global developmental delay HP:0001263
72 spasticity HP:0001257
73 intellectual disability HP:0001249
74 tapered finger HP:0001182
75 anteverted nares HP:0000463
76 sensorineural hearing impairment HP:0000407
77 low-set ears HP:0000369
78 posteriorly rotated ears HP:0000358
79 hypertelorism HP:0000316
80 epicanthus HP:0000286
81 malar flattening HP:0000272
82 microcephaly HP:0000252
83 thick lower lip vermilion HP:0000179
84 macroglossia HP:0000158
85 hydronephrosis HP:0000126
86 renal agenesis HP:0000104
87 micropenis HP:0000054
88 shawl scrotum HP:0000049
89 hypospadias HP:0000047
90 cryptorchidism HP:0000028

Drugs & Therapeutics for Alpha-Thalassemia/mental Retardation Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center 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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MalaCards organs/tissues related to Alpha-Thalassemia/mental Retardation Syndrome:

33
Eye, Tongue, Kidney, Heart, Myeloid, B cells

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0HELLS, PRKDC, RAD9A
2MP:00020068.4NBN, PRKDC, RAD9A, XRCC5
3MP:00053847.4ATRX, HELLS, NBN, PRKDC, RAD9A, XRCC5
4MP:00107687.4ATRX, HELLS, NBN, PRKDC, RAD9A, XRCC5

Publications for Alpha-Thalassemia/mental Retardation Syndrome

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Articles related to Alpha-Thalassemia/mental Retardation Syndrome:

(show all 20)
idTitleAuthorsYear
1
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. (27121329)
2016
2
miR-9-3p plays a tumour-suppressor role by targeting TAZ (WWTR1) in hepatocellular carcinoma cells. (26125451)
2015
3
An association study between genetic polymorphism in the interleukin-6 receptor gene and coronary heart disease. (24971337)
2014
4
Foix-Chavany-Marie syndrome caused by a disconnection between the right pars opercularis of the inferior frontal gyrus and the supplementary motor area. (22957529)
2012
5
Design, synthesis, and biological evaluation of (2R,alphaS)-3,4-dihydro-2-[3-(1,1,2,2-tetrafluoroethoxy)phenyl]-5-[3-(trifluoromethoxy)-phenyl]-alpha-(trifluoromethyl)-1(2H)-quinolineethanol as potent and orally active cholesteryl ester transfer protein inhibitor. (19236017)
2009
6
Usefulness of soluble Fms-like tyrosine kinase-1 as a biomarker of acute severe heart failure in patients with acute myocardial infarction. (19932778)
2009
7
Identification of novel monosodium urate crystal regulated mRNAs by transcript profiling of dissected murine air pouch membranes. (18522745)
2008
8
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report. (17428316)
2007
9
Expression of cytokeratins in Helicobacter pylori-associated chronic gastritis of adult patients infected with cagA+ strains: an immunohistochemical study. (16609992)
2006
10
Atypical oculo-orbital complex choristoma in organoid nevus syndrome. (16598983)
2006
11
Late cytomegalovirus polyradiculopathy following haploidentical CD34+-selected hematopoietic stem cell transplantation. (14716290)
2004
12
Identification of B-cell translocation gene 1 as a biomarker for monitoring the remission of acute myeloid leukemia. (15449376)
2004
13
Caspase-3 and tissue factor expression in lipid-rich plaque macrophages: evidence for apoptosis as link between inflammation and atherothrombosis. (15078795)
2004
14
Fetal antigen 1, a member of the epidermal growth factor superfamily, in neurofibromas and serum from patients with neurofibromatosis type 1. (10354070)
1999
15
Apolipoprotein E polymorphism and renal disease. (10412731)
1999
16
Primary pulmonary hypertension in a patient with HIV infection. (10063433)
1998
17
The Elav-like proteins bind to a conserved regulatory element in the 3'-untranslated region of GAP-43 mRNA. (9045688)
1997
18
Lymphoepithelioma-like carcinoma of the vulvar region. (8522294)
1995
19
Pyogenic granuloma or lobular capillary haemangioma. (7821480)
1994
20
Image interpretation session: 1992. Esophageal strictures and squamous cell carcinoma of the maxillary sinus and palate in recessive epidermolysis bullosa dystrophica. (8426919)
1993

Variations for Alpha-Thalassemia/mental Retardation Syndrome

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

67 (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

Clinvar genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome:

5 (show all 19)
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
14ATRXNM_000489.4(ATRX): c.736C> T (p.Arg246Cys)single nucleotide variantPathogenicrs122445105GRCh38Chr X, 77684520: 77684520
15ATRXNM_000489.4(ATRX): c.5225G> A (p.Arg1742Lys)single nucleotide variantPathogenicrs122445104GRCh37Chr X, 76875910: 76875910
16ATRXNM_000489.4(ATRX): c.4862C> T (p.Thr1621Met)single nucleotide variantPathogenicrs122445106GRCh37Chr X, 76889148: 76889148
17ATRXNM_000489.4(ATRX): c.109C> T (p.Arg37Ter)single nucleotide variantPathogenicrs122445108GRCh37Chr X, 76972632: 76972632
18ATRXNM_000489.4(ATRX): c.7366_7367delAT (p.Met2456Glufs)deletionLikely pathogenicrs797044723GRCh37Chr X, 76763941: 76763942
19ATRXNM_000489.4(ATRX): c.4626_4631delTGAAGA (p.Asp1542_Glu1543del)deletionLikely pathogenicrs797045406GRCh38Chr X, 77635983: 77635988

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

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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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Pathways related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.6ATRX, NBN
2
Show member pathways
9.5HELLS, NBN
3
Show member pathways
9.4NBN, XRCC5
49.3PRKDC, XRCC5
59.1NBN, RAD9A
6
Show member pathways
9.1NBN, RAD9A
7
Show member pathways
8.8NBN, PRKDC, XRCC5
88.8NBN, PRKDC, XRCC5
98.8NBN, PRKDC, XRCC5
108.6NBN, RAD9A, XRCC5
11
Show member pathways
8.0NBN, PRKDC, RAD9A, XRCC5
12
Show member pathways
8.0NBN, PRKDC, RAD9A, XRCC5

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

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Cellular components related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nonhomologous end joining complexGO:00704199.3PRKDC, XRCC5

Biological processes related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediatorGO:00303309.7ATRX, NBN
2DNA methylationGO:00063069.6ATRX, HELLS
3regulation of smooth muscle cell proliferationGO:00486609.2PRKDC, XRCC5
4DNA damage checkpointGO:00000778.8NBN, RAD9A

Molecular functions related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:00036778.5ATRX, PQBP1, PRKDC, XRCC5

Sources for Alpha-Thalassemia/mental Retardation 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