MCID: ALP014
MIFTS: 46

Alpha-Thalassemia/mental Retardation Syndrome malady

Genetic diseases (common), Neuronal diseases, Blood diseases, Mental diseases categories

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
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
Atr-X 67
Atrx 67


Classifications:



External Ids:

OMIM49 301040
MedGen34 C1845055
MeSH36 D038901

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 alpha-thalassemia/mental retardation syndrome non-deletion type x-linked, is related to mental retardation-hypotonic facies syndrome, x-linked and alpha-thalassemia myelodysplasia syndrome, somatic, and has symptoms including cryptorchidism, male pseudohermaphroditism and ambiguous genitalia. 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 Regulation of Telomerase. Affiliated tissues include eye, tongue and kidney, and related mouse phenotypes are embryogenesis and cellular.

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 46)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation-hypotonic facies syndrome, x-linked30.6ATRX, PQBP1
2alpha-thalassemia myelodysplasia syndrome, somatic28.9ATRX, HELLS, NSD1, PQBP1, RAD9A, RPA1
3thalassemia11.0
4alpha-thalassemia x-linked intellectual disability syndrome10.6
5endometriosis10.5
6myelodysplastic syndrome10.4
7alpha-thalassemia-myelodysplastic syndrome10.4
8neuroendocrine tumor10.4
9pancreatitis10.4
10hiv-110.3
11multiple sclerosis, disease progression, modifier of10.3
12hereditary spastic paraplegia10.3
13pulmonary tuberculosis10.3
14spastic cerebral palsy10.3
15mental retardation smith fineman myers type10.3
16renier gabreels jasper syndrome10.3
17neuronitis10.2
18brachydactyly10.2
19pseudohermaphroditism10.2
20herpes simplex10.2
21intellectual disability10.2
22pitt-hopkins syndrome10.1
23coffin-lowry syndrome10.1
24paraplegia10.1
25spasticity10.1
26alport syndrome and thin basement membrane nephropathy10.1ATRX, HELLS
27wilson-turner syndrome10.1ATRX, PQBP1
28synostosis10.0ATRX, PQBP1
29tarp syndrome10.0ATRX, PQBP1
30prostate cancer10.0
31leukemia10.0
32malignant glioma10.0
33osteoarthritis10.0
34astrocytoma10.0
35gonadal dysgenesis10.0
36leiomyosarcoma10.0
37melanoma10.0
38oligodendroglioma10.0
39prostatitis10.0
40syndromic intellectual disability10.0
41glioblastoma10.0
42olmsted syndrome, x-linked10.0ATRX, PQBP1
43speech disorder10.0ATRX, PQBP1
44hemoglobin h disease, nondeletional10.0ATRX, HELLS
45phaeochromocytoma9.9ATRX, PQBP1
46werner syndrome9.7HELLS, RPA1, XRCC5

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 92)
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 seizures frequent (33%) HP:0001250
26 recurrent urinary tract infections occasional (7.5%) HP:0000010
27 abnormality of the kidney occasional (7.5%) HP:0000077
28 abnormality of the teeth occasional (7.5%) HP:0000164
29 sensorineural hearing impairment occasional (7.5%) HP:0000407
30 visual impairment occasional (7.5%) HP:0000505
31 myopia occasional (7.5%) HP:0000545
32 optic atrophy occasional (7.5%) HP:0000648
33 brachydactyly syndrome occasional (7.5%) HP:0001156
34 flexion contracture occasional (7.5%) HP:0001371
35 limitation of joint mobility occasional (7.5%) HP:0001376
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
48 cryptorchidism HP:0000028
49 hypospadias HP:0000047
50 shawl scrotum HP:0000049
51 micropenis HP:0000054
52 renal agenesis HP:0000104
53 hydronephrosis HP:0000126
54 macroglossia HP:0000158
55 thick lower lip vermilion HP:0000179
56 microcephaly HP:0000252
57 malar flattening HP:0000272
58 epicanthus HP:0000286
59 hypertelorism HP:0000316
60 posteriorly rotated ears HP:0000358
61 low-set ears HP:0000369
62 sensorineural hearing impairment HP:0000407
63 anteverted nares HP:0000463
64 tapered finger HP:0001182
65 intellectual disability HP:0001249
66 spasticity HP:0001257
67 global developmental delay HP:0001263
68 x-linked dominant inheritance HP:0001423
69 umbilical hernia HP:0001537
70 widely-spaced maxillary central incisors HP:0001566
71 talipes equinovarus HP:0001762
72 abnormality of metabolism/homeostasis HP:0001939
73 constipation HP:0002019
74 gastroesophageal reflux HP:0002020
75 cerebral atrophy HP:0002059
76 coxa valga HP:0002673
77 absent frontal sinuses HP:0002688
78 kyphoscoliosis HP:0002751
79 hemivertebrae HP:0002937
80 short nose HP:0003196
81 phenotypic variability HP:0003812
82 hypochromic microcytic anemia HP:0004840
83 depressed nasal bridge HP:0005280
84 microtia HP:0008551
85 postnatal growth retardation HP:0008897
86 infantile muscular hypotonia HP:0008947
87 radial deviation of finger HP:0009466
88 u-shaped upper lip vermilion HP:0010806
89 protruding tongue HP:0010808
90 perimembranous ventricular septal defect HP:0011682
91 reduced alpha/beta synthesis ratio HP:0011907
92 clinodactyly HP:0030084

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

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:00053808.0ATRX, HELLS, NSD1, RAD9A
2MP:00053847.5ATRX, HELLS, RAD9A, RPA1, XRCC5
3MP:00107687.2ATRX, HELLS, NSD1, RAD9A, RPA1, 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
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
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability. (20500465)
2010
3
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome. (20602808)
2010
4
X-linked alpha-thalassemia/mental retardation syndrome]. (19489441)
2009
5
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. (18076105)
2008
6
Alpha-thalassemia/mental retardation syndrome in a 45,X male. (15633163)
2005
7
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
8
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). (12032728)
2002
9
Molecular genetic study of Japanese patients with X-linked alpha- thalassemia/mental retardation syndrome (ATR-X). (10995512)
2000
10
A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer. (9363663)
1997
11
A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report. (8996969)
1996
12
The alpha-thalassemia/mental retardation syndromes. (8606626)
1996
13
Self-induced vomiting in X-linked alpha-thalassemia/mental retardation syndrome. (8967323)
1996
14
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? (7726226)
1995
15
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). (7726225)
1995
16
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). (8460633)
1993
17
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq. (8166423)
1993
18
Alpha-thalassemia/mental retardation syndrome often confused with other disorders. (1456302)
1992
19
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. (2339705)
1990
20
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. (2339704)
1990

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 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/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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ATRX, RPA1
29.0RAD9A, XRCC5
38.1ATRX, RAD9A, RPA1, 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
1PML bodyGO:001660510.1ATRX, RPA1
2nuclear chromosome, telomeric regionGO:00007849.8RPA1, XRCC5
3nucleoplasmGO:00056547.2ATRX, NSD1, PQBP1, RAD9A, RPA1, XRCC5
4nucleusGO:00056346.7ATRX, HELLS, NSD1, PQBP1, RAD9A, RPA1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1DNA duplex unwindingGO:00325089.7ATRX, XRCC5
2telomere maintenanceGO:00007239.6RPA1, XRCC5
3DNA recombinationGO:00063109.5ATRX, RPA1, XRCC5
4DNA methylationGO:00063069.3ATRX, HELLS
5double-strand break repairGO:00063028.7RAD9A, RPA1, XRCC5
6DNA repairGO:00062818.2ATRX, RAD9A, RPA1, XRCC5
7transcription, DNA-templatedGO:00063518.1ATRX, HELLS, NSD1, PQBP1, XRCC5

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

idNameGO IDScoreTop Affiliating Genes
1helicase activityGO:00043869.6ATRX, HELLS
2damaged DNA bindingGO:00036849.4RPA1, XRCC5
3chromatin bindingGO:00036828.6ATRX, HELLS, NSD1, RPA1

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