MCID: ALP014
MIFTS: 48

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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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

UMLS symptoms related to Alpha-Thalassemia/mental Retardation Syndrome:


constipation

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, Skin, B cells, Pituitary

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 21)
idTitleAuthorsYear
1
A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia. (26860117)
2016
2
Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress. (23329831)
2013
3
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability. (20500465)
2010
4
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome. (20602808)
2010
5
X-linked alpha-thalassemia/mental retardation syndrome]. (19489441)
2009
6
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. (18076105)
2008
7
Alpha-thalassemia/mental retardation syndrome in a 45,X male. (15633163)
2005
8
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
9
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). (12032728)
2002
10
Molecular genetic study of Japanese patients with X-linked alpha- thalassemia/mental retardation syndrome (ATR-X). (10995512)
2000
11
A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer. (9363663)
1997
12
A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report. (8996969)
1996
13
The alpha-thalassemia/mental retardation syndromes. (8606626)
1996
14
Self-induced vomiting in X-linked alpha-thalassemia/mental retardation syndrome. (8967323)
1996
15
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? (7726226)
1995
16
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). (7726225)
1995
17
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). (8460633)
1993
18
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq. (8166423)
1993
19
Alpha-thalassemia/mental retardation syndrome often confused with other disorders. (1456302)
1992
20
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. (2339705)
1990
21
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 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