ATRX
MCID: ALP100
MIFTS: 65

Alpha-Thalassemia/mental Retardation Syndrome, X-Linked (ATRX)

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

Aliases & Classifications for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

MalaCards integrated aliases for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked:

Name: Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 57
Atr-X Syndrome 57 59 75 37 29 55 6
Alpha-Thalassemia/mental Retardation Syndrome 57 13 6
Atr-X 76 75
Atrx 57 75
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 73
Alpha-Thalassemia/mental Retardation Syndrome Non-Deletion Type X-Linked 75
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type 57
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome 59
Alpha-Thalassemia Mental Retardation Syndrome, X-Linked 75
X-Linked Alpha Thalassemia Mental Retardation Syndrome 76
Alpha-Thalassemia Mental Retardation Syndrome 76
Alpha Thalassemia-Mental Retardation Syndrome 73
Mental Retardation, X-Linked 44
Atr, Nondeletion Type 57
Atr Nondeletion Type 75

Characteristics:

Orphanet epidemiological data:

59
alpha-thalassemia-x-linked intellectual disability syndrome
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
variable phenotype
x-linked mental retardation-hypotonic facies syndrome is an allelic disorder without alpha-thalassemia

Inheritance:
x-linked dominant


HPO:

32
alpha-thalassemia/mental retardation syndrome, x-linked:
Mortality/Aging death in infancy
Onset and clinical course phenotypic variability
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

UniProtKB/Swiss-Prot : 75 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, X-Linked, also known as atr-x syndrome, is related to fibrillary astrocytoma and gastric neuroendocrine neoplasm, and has symptoms including constipation An important gene associated with Alpha-Thalassemia/mental Retardation Syndrome, X-Linked is ATRX (ATRX, Chromatin Remodeler), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. Affiliated tissues include eye, kidney and tongue, and related phenotypes are hypertelorism and agenesis of corpus callosum

Wikipedia : 76 Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental... more...

Description from OMIM: 301040

Related Diseases for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

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

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 fibrillary astrocytoma 31.6 ATRX TP53
2 gastric neuroendocrine neoplasm 31.5 ATRX DAXX
3 alpha-thalassemia 30.7 ATRX DAXX HELLS TP53
4 mental retardation, x-linked, with or without seizures, arx-related 12.8
5 mental retardation, x-linked, syndromic 13 12.8
6 mental retardation, x-linked, syndromic, cabezas type 12.8
7 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.7
8 mental retardation, x-linked 12 12.7
9 mental retardation, x-linked, with panhypopituitarism 12.7
10 mental retardation, x-linked, syndromic, nascimento type 12.7
11 mental retardation, x-linked 49 12.7
12 mental retardation, x-linked, syndromic, hedera type 12.7
13 mental retardation, x-linked, syndromic, claes-jensen type 12.7
14 mental retardation, x-linked, syndromic, wu type 12.7
15 mental retardation, x-linked, syndromic, turner type 12.7
16 mental retardation, x-linked, syndromic, raymond type 12.7
17 mental retardation, x-linked 97 12.7
18 mental retardation, x-linked, syndromic 32 12.7
19 mental retardation, x-linked, syndromic 34 12.7
20 mental retardation, x-linked, syndromic, martin-probst type 12.7
21 mental retardation, x-linked 96 12.7
22 mental retardation, x-linked, associated with fragile site fraxe 12.7
23 mental retardation, x-linked 21 12.6
24 mental retardation, x-linked, syndromic, christianson type 12.6
25 mental retardation, x-linked 98 12.6
26 mental retardation, x-linked 99 12.6
27 mental retardation, x-linked 100 12.6
28 mental retardation, x-linked 101 12.6
29 mental retardation, x-linked 92 12.6
30 mental retardation, x-linked 102 12.6
31 mental retardation, x-linked, syndromic 33 12.6
32 mental retardation, x-linked, syndromic, 35 12.6
33 mental retardation, x-linked 99, syndromic, female-restricted 12.6
34 mental retardation, x-linked 103 12.6
35 mental retardation, x-linked 104 12.6
36 mental retardation, x-linked 105 12.6
37 mental retardation, x-linked, syndromic, bain type 12.6
38 mental retardation, x-linked 106 12.6
39 mental retardation, x-linked, syndromic, houge type 12.6
40 mental retardation, x-linked 107 12.6
41 mental retardation, x-linked, syndromic 17 12.4
42 mental retardation, x-linked, syndromic, chudley-schwartz type 12.4
43 mental retardation, x-linked, syndromic, snyder-robinson type 12.4
44 mental retardation, x-linked, syndromic 9 12.4
45 alpha thalassemia-x-linked intellectual disability syndrome 12.4
46 mental retardation, x-linked 23 12.3
47 mental retardation, x-linked, with craniofacial dysmorphism 12.3
48 mental retardation, x-linked 50 12.3
49 mental retardation, x-linked 53 12.3
50 mental retardation, x-linked 73 12.3

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



Diseases related to Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

Symptoms & Phenotypes for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthal folds

Skeletal Hands:
clinodactyly
tapering fingers

Abdomen External Features:
umbilical hernia

Head And Neck Nose:
anteverted nares
low nasal bridge
small triangular nose

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
shawl scrotum
small penis

Genitourinary Kidneys:
hydronephrosis
renal agenesis

Neurologic Central Nervous System:
cerebral atrophy
mental retardation
hypotonia early
delayed developmental milestones
expressive speech absent
more
Growth Other:
postnatal growth deficiency

Head And Neck Teeth:
widely-spaced upper incisors

Laboratory Abnormalities:
hb h erythrocyte inclusions

Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears
sensorineural hearing loss (less common)

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

Head And Neck Head:
microcephaly
absent frontal sinuses

Skeletal Pelvis:
coxa valga

Skeletal Feet:
talipes equinovarus

Head And Neck Mouth:
protruding tongue
full lips
'carp-like' mouth

Skeletal Spine:
kyphoscoliosis
hemivertebra

Cardiovascular Heart:
perimembranous ventricular septal defect

Head And Neck Face:
mid-face hypoplasia

Hematology:
mild hypochromic microcytic anemia
mild form of hemoglobin h (hb h) disease


Clinical features from OMIM:

301040

Human phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome, X-Linked:

59 32 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
3 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
8 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
9 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
10 encephalitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002383
11 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
12 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
13 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
14 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
15 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
16 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
17 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
18 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
19 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
20 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
21 flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001371
22 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
23 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
24 abnormality of movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0100022
25 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
26 thick lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000179
27 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
28 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
29 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
30 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
31 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
32 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
33 abnormal hemoglobin 59 32 frequent (33%) Frequent (79-30%) HP:0011902
34 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
35 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
36 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
37 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
38 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
39 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
40 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
41 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
42 recurrent urinary tract infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0000010
43 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
44 male pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000037
45 ambiguous genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000062
46 spastic paraplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001258
47 tented upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0010804
48 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
49 volvulus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002580
50 u-shaped upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0010806

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


constipation

GenomeRNAi Phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome, X-Linked according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.42 PRKDC XRCC5 XRCC6
2 Decreased viability GR00221-A-2 10.42 XRCC5 XRCC6
3 Decreased viability GR00240-S-1 10.42 RAD9A SSRP1 TP53
4 Decreased viability GR00301-A 10.42 RPA1
5 Decreased viability GR00402-S-2 10.42 ATRX DAXX HELLS HIST1H1C HIST1H2AB HIST1H2BL
6 no effect GR00402-S-1 9.96 ATRX DAXX HELLS HIST1H1C HIST1H2AB HIST1H2BL
7 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.9 MRE11 NBN PRKDC RAD1 RAD50 RAD9A
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.89 DAXX HIST1H2BL MRE11 NBN PRKDC RAD1
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.89 DAXX HIST1H2BL MRE11 NBN PRKDC RAD1

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

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 ATRX DAXX HELLS HIST1H1C MRE11 NBN
2 behavior/neurological MP:0005386 10.24 ATRX HELLS MRE11 NBN PRKDC RAD1
3 growth/size/body region MP:0005378 10.17 ATRX DAXX HELLS HIST1H1C NBN PRKDC
4 mortality/aging MP:0010768 10.17 ATRX DAXX HELLS HIST1H1C MRE11 NBN
5 embryo MP:0005380 10.16 ATRX DAXX HELLS HIST1H1C MRE11 NBN
6 immune system MP:0005387 10.11 HELLS HIST1H1C MRE11 NBN PRKDC RAD1
7 hematopoietic system MP:0005397 10.1 HELLS HIST1H1C MRE11 NBN PRKDC RAD50
8 neoplasm MP:0002006 9.91 MRE11 NBN PRKDC RAD50 RAD9A RPA1
9 nervous system MP:0003631 9.85 ATRX DAXX HIST1H1C MRE11 NBN PRKDC
10 pigmentation MP:0001186 9.35 HELLS PRKDC RAD50 RAD9A TP53
11 reproductive system MP:0005389 9.28 ATRX HIST1H1C MRE11 NBN PRKDC RAD50

Drugs & Therapeutics for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

Search Clinical Trials , NIH Clinical Center for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

Cochrane evidence based reviews: mental retardation, x-linked

Genetic Tests for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

Genetic tests related to Alpha-Thalassemia/mental Retardation Syndrome, X-Linked:

# Genetic test Affiliating Genes
1 Atr-X Syndrome 29 ATRX

Anatomical Context for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

MalaCards organs/tissues related to Alpha-Thalassemia/mental Retardation Syndrome, X-Linked:

41
Eye, Kidney, Tongue, Breast, Pineal

Publications for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

Articles related to Alpha-Thalassemia/mental Retardation Syndrome, X-Linked:

(show all 36)
# Title Authors Year
1
Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6. ( 30073207 )
2018
2
Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients. ( 29706636 )
2018
3
Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome. ( 29785027 )
2018
4
SA4503, A Potent Sigma-1 Receptor Ligand, Ameliorates Synaptic Abnormalities and Cognitive Dysfunction in a Mouse Model of ATR-X Syndrome. ( 30231518 )
2018
5
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. ( 28371217 )
2017
6
Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential. ( 29359122 )
2017
7
Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature. ( 26174613 )
2015
8
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX. ( 24898829 )
2014
9
Esophago-gastric motility and nutritional management in a child with ATR-X syndrome. ( 25252072 )
2014
10
Targeted loss of the ATR-X syndrome protein in the limb mesenchyme of mice causes brachydactyly. ( 23892236 )
2013
11
The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea. ( 21218045 )
2011
12
ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31). ( 22089611 )
2011
13
Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome. ( 21427128 )
2011
14
ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner. ( 21029860 )
2010
15
Partial ATRX gene duplication causes ATR-X syndrome. ( 19764021 )
2009
16
Partial duplications of the ATRX gene cause the ATR-X syndrome. ( 17579672 )
2007
17
A novel splicing mutation of the ATRX gene in ATR-X syndrome. ( 16376512 )
2006
18
Gastrointestinal phenotype of ATR-X syndrome. ( 16688741 )
2006
19
Asplenia in ATR-X syndrome: a second report. ( 16222662 )
2005
20
[ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain]. ( 16125058 )
2005
21
A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein. ( 14990586 )
2004
22
A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain. ( 14729260 )
2004
23
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). ( 12032728 )
2002
24
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene. ( 11559911 )
2001
25
Molecular-clinical spectrum of the ATR-X syndrome. ( 11449489 )
2000
26
Germline and gonosomal mosaicism in the ATR-X syndrome. ( 10602370 )
1999
27
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. ( 10204841 )
1999
28
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. ( 10660327 )
1998
29
A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome. ( 8651295 )
1996
30
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. ( 8968741 )
1996
31
Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome. ( 7726224 )
1995
32
Mutations in a putative global transcriptional regulator cause X- linked mental retardation with alpha-thalassemia (ATR-X syndrome). ( 7697714 )
1995
33
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. ( 7726227 )
1995
34
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family. ( 8166424 )
1993
35
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. ( 1415255 )
1992
36
X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. ( 1583667 )
1992

Variations for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

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

75 (show all 28)
# Symbol AA change Variation ID SNP ID
1 ATRX p.Pro190Ala VAR_001226
2 ATRX p.Leu192Phe VAR_001227
3 ATRX p.Cys200Ser VAR_001228
4 ATRX p.Cys220Arg VAR_001229
5 ATRX p.Trp222Ser VAR_001230
6 ATRX p.Cys243Phe VAR_001231
7 ATRX p.Arg246Cys VAR_001232
8 ATRX p.Gly249Asp VAR_001233
9 ATRX p.His1609Arg VAR_001234
10 ATRX p.Cys1614Arg VAR_001235
11 ATRX p.Lys1650Asn VAR_001236
12 ATRX p.Asp2035Val VAR_001238
13 ATRX p.Tyr2084His VAR_001239
14 ATRX p.Tyr2163Cys VAR_001241
15 ATRX p.Arg246Leu VAR_010914
16 ATRX p.Gly175Glu VAR_012113
17 ATRX p.Asn179Ser VAR_012115
18 ATRX p.Pro190Leu VAR_012116
19 ATRX p.Pro190Ser VAR_012117
20 ATRX p.Val194Ile VAR_012118
21 ATRX p.Gln219Pro VAR_012119
22 ATRX p.Gly249Cys VAR_012120
23 ATRX p.Val1552Phe VAR_012122
24 ATRX p.Leu1645Ser VAR_012123
25 ATRX p.Pro1713Ser VAR_012124
26 ATRX p.Arg1742Lys VAR_012125
27 ATRX p.Tyr1847Cys VAR_012126
28 ATRX p.Thr1621Met VAR_016916

ClinVar genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked:

6 (show top 50) (show all 269)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATRX NM_000489.4(ATRX): c.6104A> T (p.Asp2035Val) single nucleotide variant Pathogenic rs122445096 GRCh37 Chromosome X, 76849172: 76849172
2 ATRX NM_000489.4(ATRX): c.4826A> G (p.His1609Arg) single nucleotide variant Pathogenic rs122445093 GRCh37 Chromosome X, 76889184: 76889184
3 ATRX NM_000489.4(ATRX): c.4826A> G (p.His1609Arg) single nucleotide variant Pathogenic rs122445093 GRCh38 Chromosome X, 77633696: 77633696
4 ATRX NM_000489.4(ATRX): c.4840T> C (p.Cys1614Arg) single nucleotide variant Pathogenic rs122445094 GRCh37 Chromosome X, 76889170: 76889170
5 ATRX NM_000489.4(ATRX): c.4840T> C (p.Cys1614Arg) single nucleotide variant Pathogenic rs122445094 GRCh38 Chromosome X, 77633682: 77633682
6 ATRX NM_000489.4(ATRX): c.4950G> T (p.Lys1650Asn) single nucleotide variant Pathogenic rs122445095 GRCh37 Chromosome X, 76889060: 76889060
7 ATRX NM_000489.4(ATRX): c.4950G> T (p.Lys1650Asn) single nucleotide variant Pathogenic rs122445095 GRCh38 Chromosome X, 77633572: 77633572
8 ATRX NM_000489.4(ATRX): c.5579A> G (p.Asn1860Ser) single nucleotide variant Benign rs45439799 GRCh37 Chromosome X, 76856021: 76856021
9 ATRX NM_000489.4(ATRX): c.5579A> G (p.Asn1860Ser) single nucleotide variant Benign rs45439799 GRCh38 Chromosome X, 77600552: 77600552
10 ATRX NM_000489.4(ATRX): c.6104A> T (p.Asp2035Val) single nucleotide variant Pathogenic rs122445096 GRCh38 Chromosome X, 77593702: 77593702
11 ATRX NM_000489.4(ATRX): c.6250T> C (p.Tyr2084His) single nucleotide variant Pathogenic rs122445097 GRCh37 Chromosome X, 76829791: 76829791
12 ATRX NM_000489.4(ATRX): c.6250T> C (p.Tyr2084His) single nucleotide variant Pathogenic rs122445097 GRCh38 Chromosome X, 77574326: 77574326
13 ATRX NM_000489.4(ATRX): c.6488A> G (p.Tyr2163Cys) single nucleotide variant Pathogenic rs122445098 GRCh37 Chromosome X, 76814156: 76814156
14 ATRX NM_000489.4(ATRX): c.6488A> G (p.Tyr2163Cys) single nucleotide variant Pathogenic rs122445098 GRCh38 Chromosome X, 77558685: 77558685
15 ATRX NM_000489.4(ATRX): c.7156C> T (p.Arg2386Ter) single nucleotide variant Pathogenic rs122445099 GRCh37 Chromosome X, 76776310: 76776310
16 ATRX NM_000489.4(ATRX): c.7156C> T (p.Arg2386Ter) single nucleotide variant Pathogenic rs122445099 GRCh38 Chromosome X, 77520832: 77520832
17 ATRX NM_000489.4(ATRX): c.7162G> T (p.Glu2388Ter) single nucleotide variant Pathogenic rs122445100 GRCh37 Chromosome X, 76776304: 76776304
18 ATRX NM_000489.4(ATRX): c.7162G> T (p.Glu2388Ter) single nucleotide variant Pathogenic rs122445100 GRCh38 Chromosome X, 77520826: 77520826
19 ATRX ATRX, IVSAS, T-A, -10 single nucleotide variant Pathogenic
20 ATRX NM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln) single nucleotide variant Pathogenic rs122445101 GRCh37 Chromosome X, 76814252: 76814252
21 ATRX NM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln) single nucleotide variant Pathogenic rs122445101 GRCh38 Chromosome X, 77558781: 77558781
22 ATRX NM_000489.4: c.751A> G single nucleotide variant Pathogenic
23 ATRX NM_000489.4(ATRX): c.568C> G (p.Pro190Ala) single nucleotide variant Likely pathogenic rs122445103 GRCh37 Chromosome X, 76944337: 76944337
24 ATRX NM_000489.4(ATRX): c.568C> G (p.Pro190Ala) single nucleotide variant Likely pathogenic rs122445103 GRCh38 Chromosome X, 77688844: 77688844
25 ATRX NM_000489.4(ATRX): c.736C> T (p.Arg246Cys) single nucleotide variant Pathogenic rs122445105 GRCh38 Chromosome X, 77684520: 77684520
26 ATRX NM_000489.4(ATRX): c.736C> T (p.Arg246Cys) single nucleotide variant Pathogenic rs122445105 GRCh37 Chromosome X, 76940012: 76940012
27 ATRX NM_000489.4(ATRX): c.5225G> A (p.Arg1742Lys) single nucleotide variant Pathogenic rs122445104 GRCh37 Chromosome X, 76875910: 76875910
28 ATRX NM_000489.4(ATRX): c.5225G> A (p.Arg1742Lys) single nucleotide variant Pathogenic rs122445104 GRCh38 Chromosome X, 77620442: 77620442
29 ATRX NM_000489.4(ATRX): c.4862C> T (p.Thr1621Met) single nucleotide variant Pathogenic rs122445106 GRCh37 Chromosome X, 76889148: 76889148
30 ATRX NM_000489.4(ATRX): c.4862C> T (p.Thr1621Met) single nucleotide variant Pathogenic rs122445106 GRCh38 Chromosome X, 77633660: 77633660
31 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh37 Chromosome X, 76972632: 76972632
32 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh38 Chromosome X, 77717155: 77717155
33 ATRX NM_000489.4(ATRX): c.1633C> G (p.Gln545Glu) single nucleotide variant Benign rs35738915 GRCh37 Chromosome X, 76939115: 76939115
34 ATRX NM_000489.4(ATRX): c.1633C> G (p.Gln545Glu) single nucleotide variant Benign rs35738915 GRCh38 Chromosome X, 77683623: 77683623
35 ATRX NM_000489.4(ATRX): c.2595C> G (p.His865Gln) single nucleotide variant Benign rs61752455 GRCh37 Chromosome X, 76938153: 76938153
36 ATRX NM_000489.4(ATRX): c.2595C> G (p.His865Gln) single nucleotide variant Benign rs61752455 GRCh38 Chromosome X, 77682661: 77682661
37 ATRX NM_000489.4(ATRX): c.288A> G (p.Lys96=) single nucleotide variant Benign rs45574238 GRCh37 Chromosome X, 76952147: 76952147
38 ATRX NM_000489.4(ATRX): c.288A> G (p.Lys96=) single nucleotide variant Benign rs45574238 GRCh38 Chromosome X, 77696659: 77696659
39 ATRX NM_000489.4(ATRX): c.4377_4379delGGA (p.Glu1464del) deletion Benign/Likely benign rs398123423 GRCh37 Chromosome X, 76907782: 76907784
40 ATRX NM_000489.4(ATRX): c.4377_4379delGGA (p.Glu1464del) deletion Benign/Likely benign rs398123423 GRCh38 Chromosome X, 77652292: 77652294
41 ATRX NM_000489.4(ATRX): c.4635C> A (p.Thr1545=) single nucleotide variant Benign/Likely benign rs148975763 GRCh37 Chromosome X, 76891470: 76891470
42 ATRX NM_000489.4(ATRX): c.4635C> A (p.Thr1545=) single nucleotide variant Benign/Likely benign rs148975763 GRCh38 Chromosome X, 77635979: 77635979
43 ATRX NM_000489.4(ATRX): c.4659T> C (p.His1553=) single nucleotide variant Benign rs25641 GRCh37 Chromosome X, 76891446: 76891446
44 ATRX NM_000489.4(ATRX): c.4659T> C (p.His1553=) single nucleotide variant Benign rs25641 GRCh38 Chromosome X, 77635955: 77635955
45 ATRX NM_000489.4(ATRX): c.570T> G (p.Pro190=) single nucleotide variant Benign rs188831993 GRCh37 Chromosome X, 76944335: 76944335
46 ATRX NM_000489.4(ATRX): c.570T> G (p.Pro190=) single nucleotide variant Benign rs188831993 GRCh38 Chromosome X, 77688842: 77688842
47 ATRX NM_000489.4(ATRX): c.5968T> A (p.Ser1990Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142180002 GRCh37 Chromosome X, 76849308: 76849308
48 ATRX NM_000489.4(ATRX): c.5968T> A (p.Ser1990Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142180002 GRCh38 Chromosome X, 77593838: 77593838
49 ATRX NM_000489.4(ATRX): c.228G> A (p.Ser76=) single nucleotide variant Benign rs5959371 GRCh37 Chromosome X, 76953085: 76953085
50 ATRX NM_000489.4(ATRX): c.228G> A (p.Ser76=) single nucleotide variant Benign rs5959371 GRCh38 Chromosome X, 77697597: 77697597

Copy number variations for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 264553 X 67700000 76000000 Microdeletion ATR-X Syndrome

Expression for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

Search GEO for disease gene expression data for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked.

Pathways for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

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

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 DAXX HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE MRE11
2
Show member pathways
13.45 HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE MRE11 NBN
3
Show member pathways
13.16 HIST1H1C HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE MRE11
4
Show member pathways
13.07 HIST1H2BL HIST1H4J HIST2H2BE MRE11 NBN PRKDC
5
Show member pathways
13 DAXX MRE11 NBN RAD1 RAD50 RAD9A
6
Show member pathways
12.74 DAXX MRE11 NBN PRKDC RAD1 RAD50
7
Show member pathways
12.67 HIST1H2BL HIST1H4J HIST2H2BE MRE11 NBN RAD1
8 12.58 MRE11 NBN PRKDC RAD50 RAD9A RPA1
9
Show member pathways
12.56 HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE RPA1
10
Show member pathways
12.56 HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE MRE11 NBN
11
Show member pathways
12.44 MRE11 NBN PRKDC RAD1 RAD50 RAD9A
12
Show member pathways
12.38 MRE11 PRKDC XRCC5 XRCC6
13 12.37 ATRX HELLS SSRP1 SUPT16H
14
Show member pathways
12.37 MRE11 NBN RAD1 RAD50 RAD9A RPA1
15
Show member pathways
12.33 HIST1H1C RAD1 RAD9A RPA1
16
Show member pathways
12.32 HIST1H1C HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE MRE11
17 12.26 HIST1H2BL HIST1H4J HIST2H2BE TP53
18 12.24 MRE11 NBN RAD1 RAD50 RAD9A TP53
19
Show member pathways
12.12 MRE11 NBN RAD50 RPA1
20
Show member pathways
12.02 MRE11 NBN RAD50 XRCC5 XRCC6
21
Show member pathways
12.01 HIST1H2BL HIST1H4J HIST2H2BE MRE11 NBN PRKDC
22
Show member pathways
11.92 MRE11 NBN RAD50 RAD9A TP53
23
Show member pathways
11.88 HELLS MRE11 NBN RAD50 TP53
24 11.79 PRKDC RPA1 TP53
25 11.73 MRE11 NBN RAD1 RAD50 RAD9A XRCC5
26 11.65 ATRX PRKDC TP53
27 11.58 PRKDC XRCC5 XRCC6
28 11.57 MRE11 NBN PRKDC RAD50
29 11.55 MRE11 NBN RAD50 TP53
30 11.48 MRE11 RAD50 TP53
31 11.46 NBN RAD9A TP53
32 11.39 HIST1H4J TP53 XRCC6
33
Show member pathways
11.3 MRE11 NBN RAD50 XRCC5 XRCC6
34 11.07 RAD1 RAD9A TP53
35 11.01 MRE11 NBN PRKDC RAD50 XRCC5 XRCC6
36
Show member pathways
10.99 MRE11 NBN RAD50
37 10.63 MRE11 NBN PRKDC RAD50 TP53 XRCC5

GO Terms for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.97 HIST1H4J PRKDC TP53 XRCC5 XRCC6
2 PML body GO:0016605 9.8 ATRX DAXX MRE11 NBN RPA1 TP53
3 nucleosome GO:0000786 9.77 HIST1H1C HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE
4 chromosome, telomeric region GO:0000781 9.76 ATRX MRE11 NBN RAD50
5 site of double-strand break GO:0035861 9.7 MRE11 NBN RAD50
6 protein-DNA complex GO:0032993 9.67 PRKDC XRCC5 XRCC6
7 Mre11 complex GO:0030870 9.61 MRE11 NBN RAD50
8 nuclear chromosome, telomeric region GO:0000784 9.61 ATRX HIST1H4J MRE11 NBN PRKDC RAD50
9 nonhomologous end joining complex GO:0070419 9.58 PRKDC XRCC5 XRCC6
10 pericentric heterochromatin GO:0005721 9.57 ATRX HELLS
11 site of DNA damage GO:0090734 9.56 RPA1 XRCC5
12 nuclear telomere cap complex GO:0000783 9.54 XRCC5 XRCC6
13 checkpoint clamp complex GO:0030896 9.51 RAD1 RAD9A
14 chromosome GO:0005694 9.5 ATRX DAXX HIST1H1C HIST1H2AB HIST1H2BL HIST1H4J
15 Ku70:Ku80 complex GO:0043564 9.48 XRCC5 XRCC6
16 nucleus GO:0005634 10.26 ATRX DAXX HELLS HIST1H1C HIST1H2AB HIST1H2BL
17 nucleolus GO:0005730 10.09 DAXX NBN PRKDC SSRP1 TP53 XRCC5
18 nucleoplasm GO:0005654 10.09 ATRX DAXX HIST1H2BL HIST1H4J HIST2H2BE MRE11

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.95 MRE11 NBN RAD50 RPA1 SSRP1 SUPT16H
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.93 MRE11 RAD1 RAD50 RAD9A
3 meiotic cell cycle GO:0051321 9.91 MRE11 NBN RAD50 RPA1
4 nucleosome assembly GO:0006334 9.91 ATRX DAXX HIST1H1C HIST1H2BL HIST1H4J HIST2H2BE
5 double-strand break repair via homologous recombination GO:0000724 9.87 MRE11 NBN RAD50 RPA1
6 DNA recombination GO:0006310 9.87 ATRX MRE11 PRKDC RAD50 RPA1 XRCC5
7 regulation of signal transduction by p53 class mediator GO:1901796 9.85 SSRP1 SUPT16H TP53
8 double-strand break repair GO:0006302 9.85 MRE11 NBN PRKDC RAD50 XRCC5
9 DNA duplex unwinding GO:0032508 9.85 ATRX MRE11 NBN RAD50 XRCC5 XRCC6
10 positive regulation of protein kinase activity GO:0045860 9.83 DAXX XRCC5 XRCC6
11 positive regulation of type I interferon production GO:0032481 9.83 MRE11 PRKDC XRCC5 XRCC6
12 base-excision repair GO:0006284 9.81 MRE11 RPA1 TP53
13 telomere capping GO:0016233 9.81 HIST1H4J NBN PRKDC RAD50
14 cellular response to ionizing radiation GO:0071479 9.8 RAD1 RAD9A TP53
15 double-strand break repair via nonhomologous end joining GO:0006303 9.8 HIST1H4J MRE11 NBN PRKDC RAD50 XRCC5
16 DNA damage checkpoint GO:0000077 9.79 NBN RAD1 RAD9A
17 cellular response to gamma radiation GO:0071480 9.78 TP53 XRCC5 XRCC6
18 telomere maintenance via telomerase GO:0007004 9.77 MRE11 RAD50 RPA1
19 activation of innate immune response GO:0002218 9.77 PRKDC XRCC5 XRCC6
20 cellular response to DNA damage stimulus GO:0006974 9.77 ATRX MRE11 NBN PRKDC RAD1 RAD50
21 positive regulation of protein autophosphorylation GO:0031954 9.76 MRE11 NBN RAD50
22 positive regulation of kinase activity GO:0033674 9.75 MRE11 NBN RAD50
23 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.73 ATRX NBN TP53
24 DNA double-strand break processing GO:0000729 9.72 MRE11 NBN RAD50
25 regulation of smooth muscle cell proliferation GO:0048660 9.71 PRKDC XRCC5 XRCC6
26 positive regulation of telomere maintenance GO:0032206 9.71 ATRX MRE11 NBN RAD50
27 telomere maintenance GO:0000723 9.7 MRE11 NBN PRKDC RAD50 RPA1 XRCC5
28 DNA methylation GO:0006306 9.68 ATRX HELLS
29 mitotic G2 DNA damage checkpoint GO:0007095 9.68 MRE11 NBN
30 intra-S DNA damage checkpoint GO:0031573 9.68 MRE11 RAD9A
31 cellular response to X-ray GO:0071481 9.67 XRCC5 XRCC6
32 protein localization to chromosome, telomeric region GO:0070198 9.67 ATRX XRCC5
33 telomeric 3' overhang formation GO:0031860 9.67 MRE11 NBN RAD50
34 establishment of integrated proviral latency GO:0075713 9.66 XRCC5 XRCC6
35 chromosome organization involved in meiotic cell cycle GO:0070192 9.66 ATRX RAD50
36 negative regulation of telomere capping GO:1904354 9.65 NBN RAD50
37 regulation of mitotic recombination GO:0000019 9.64 MRE11 RAD50
38 cellular hyperosmotic salinity response GO:0071475 9.63 XRCC5 XRCC6
39 DNA repair GO:0006281 9.4 ATRX MRE11 NBN PRKDC RAD1 RAD50
40 cell proliferation GO:0008283 10.05 MRE11 NBN PRKDC TP53 XRCC5

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.93 DAXX HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE TP53
2 double-stranded DNA binding GO:0003690 9.8 HIST1H1C MRE11 PRKDC XRCC5 XRCC6
3 helicase activity GO:0004386 9.78 ATRX HELLS XRCC5 XRCC6
4 histone binding GO:0042393 9.77 ATRX DAXX SUPT16H
5 nuclease activity GO:0004518 9.76 MRE11 RAD1 RAD9A
6 protein N-terminus binding GO:0047485 9.73 DAXX NBN TP53
7 exonuclease activity GO:0004527 9.7 MRE11 RAD1 RAD9A
8 damaged DNA binding GO:0003684 9.65 NBN RAD1 RPA1 XRCC5 XRCC6
9 3'-5' exonuclease activity GO:0008408 9.62 MRE11 RAD1 RAD50 RAD9A
10 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.55 MRE11 RAD50
11 single-stranded telomeric DNA binding GO:0043047 9.54 MRE11 RAD50 RPA1
12 5'-deoxyribose-5-phosphate lyase activity GO:0051575 9.51 XRCC5 XRCC6
13 exodeoxyribonuclease III activity GO:0008853 9.49 RAD1 RAD9A
14 DNA binding GO:0003677 9.47 ATRX HIST1H1C HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE
15 double-stranded telomeric DNA binding GO:0003691 9.46 MRE11 RAD50 XRCC5 XRCC6
16 ATP-dependent DNA helicase activity GO:0004003 9.35 MRE11 NBN RAD50 XRCC5 XRCC6
17 protein binding GO:0005515 10.39 ATRX DAXX HELLS HIST1H1C HIST1H2AB HIST1H4J
18 hydrolase activity GO:0016787 10.14 ATRX HELLS MRE11 RAD1 RAD50 RAD9A
19 ATP binding GO:0005524 10.12 ATRX HELLS PRKDC RAD50 TP53 XRCC5
20 RNA binding GO:0003723 10.11 HIST1H1C HIST1H4J PRKDC SSRP1 SUPT16H XRCC5

Sources for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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