MCID: ALP100
MIFTS: 59

Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

Categories: Genetic diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Blood diseases, Rare diseases, Mental 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 alpha-thalassemia and mental retardation, x-linked, with or without seizures, arx-related, 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 67)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia 29.2 ATRX DAXX HELLS TP53
2 mental retardation, x-linked, with or without seizures, arx-related 12.7
3 mental retardation, x-linked, syndromic 13 12.6
4 mental retardation, x-linked, syndromic, cabezas type 12.6
5 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.5
6 mental retardation, x-linked 12 12.5
7 mental retardation, x-linked, with panhypopituitarism 12.5
8 mental retardation, x-linked, syndromic, nascimento type 12.5
9 mental retardation, x-linked 49 12.5
10 mental retardation, x-linked, syndromic, hedera type 12.5
11 mental retardation, x-linked, syndromic, claes-jensen type 12.5
12 mental retardation, x-linked, syndromic, wu type 12.5
13 mental retardation, x-linked, syndromic, turner type 12.5
14 mental retardation, x-linked, syndromic, raymond type 12.5
15 mental retardation, x-linked 97 12.5
16 mental retardation, x-linked, syndromic 32 12.5
17 mental retardation, x-linked, syndromic 34 12.5
18 mental retardation, x-linked, syndromic, martin-probst type 12.5
19 mental retardation, x-linked 96 12.5
20 mental retardation, x-linked, associated with fragile site fraxe 12.5
21 mental retardation, x-linked 21 12.5
22 mental retardation, x-linked, syndromic, christianson type 12.5
23 mental retardation, x-linked 98 12.5
24 mental retardation, x-linked 99 12.5
25 mental retardation, x-linked 101 12.5
26 mental retardation, x-linked 92 12.5
27 mental retardation, x-linked 100 12.5
28 mental retardation, x-linked 102 12.5
29 mental retardation, x-linked, syndromic 33 12.5
30 mental retardation, x-linked, syndromic, 35 12.5
31 mental retardation, x-linked 99, syndromic, female-restricted 12.5
32 mental retardation, x-linked 104 12.5
33 mental retardation, x-linked, syndromic, bain type 12.5
34 mental retardation, x-linked 61 12.4
35 mental retardation, x-linked 103 12.4
36 mental retardation, x-linked 105 12.4
37 mental retardation, x-linked 106 12.4
38 mental retardation, x-linked, syndromic, houge type 12.4
39 mental retardation, x-linked, syndromic 17 12.3
40 mental retardation, x-linked, syndromic, chudley-schwartz type 12.3
41 mental retardation, x-linked, syndromic, snyder-robinson type 12.3
42 mental retardation, x-linked, syndromic 9 12.2
43 alpha thalassemia-x-linked intellectual disability syndrome 12.2
44 mental retardation, x-linked 23 12.2
45 mental retardation, x-linked, with craniofacial dysmorphism 12.2
46 mental retardation, x-linked 50 12.2
47 mental retardation, x-linked 53 12.2
48 mental retardation, x-linked 73 12.2
49 mental retardation, x-linked 42 12.2
50 mental retardation, x-linked 107 12.2

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

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

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

Genitourinary External Genitalia Male:
hypospadias
shawl scrotum
small penis

Skeletal Feet:
talipes equinovarus

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 88)
# 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 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
36 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
37 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
38 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
39 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
40 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
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 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.89 NBN TP53 PRKDC RAD1 RAD50 RPA1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.89 MRE11 RPA1 NBN TP53 PRKDC RAD1
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 MRE11 NBN PRKDC RAD1 RAD50 RAD9A

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 RAD50 RAD9A RPA1 TP53 XRCC5 XRCC6
2 behavior/neurological MP:0005386 10.24 ATRX HELLS MRE11 NBN PRKDC RAD1
3 growth/size/body region MP:0005378 10.17 XRCC5 XRCC6 ATRX DAXX HELLS HIST1H1C
4 mortality/aging MP:0010768 10.17 XRCC5 ATRX DAXX HELLS HIST1H1C MRE11
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 RAD50 TP53 XRCC5 XRCC6 ATRX HIST1H1C

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

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

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

(show all 26)
# Title Authors Year
1
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. ( 28371217 )
2017
2
Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential. ( 29359122 )
2017
3
Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature. ( 26174613 )
2015
4
Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress. ( 23329831 )
2013
5
Targeted loss of the ATR-X syndrome protein in the limb mesenchyme of mice causes brachydactyly. ( 23892236 )
2013
6
The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea. ( 21218045 )
2011
7
ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31). ( 22089611 )
2011
8
ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner. ( 21029860 )
2010
9
Partial ATRX gene duplication causes ATR-X syndrome. ( 19764021 )
2009
10
Partial duplications of the ATRX gene cause the ATR-X syndrome. ( 17579672 )
2007
11
A novel splicing mutation of the ATRX gene in ATR-X syndrome. ( 16376512 )
2006
12
Asplenia in ATR-X syndrome: a second report. ( 16222662 )
2005
13
[ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain]. ( 16125058 )
2005
14
A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein. ( 14990586 )
2004
15
A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain. ( 14729260 )
2004
16
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). ( 12032728 )
2002
17
Molecular-clinical spectrum of the ATR-X syndrome. ( 11449489 )
2000
18
Germline and gonosomal mosaicism in the ATR-X syndrome. ( 10602370 )
1999
19
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. ( 10204841 )
1999
20
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. ( 10660327 )
1998
21
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
22
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. ( 8968741 )
1996
23
Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome. ( 7726224 )
1995
24
Mutations in a putative global transcriptional regulator cause X- linked mental retardation with alpha-thalassemia (ATR-X syndrome). ( 7697714 )
1995
25
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. ( 7726227 )
1995
26
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. ( 1415255 )
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 178)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATRX NM_000489.4(ATRX): c.4826A> G (p.His1609Arg) single nucleotide variant Pathogenic rs122445093 GRCh37 Chromosome X, 76889184: 76889184
2 ATRX NM_000489.4(ATRX): c.4826A> G (p.His1609Arg) single nucleotide variant Pathogenic rs122445093 GRCh38 Chromosome X, 77633696: 77633696
3 ATRX NM_000489.4(ATRX): c.4840T> C (p.Cys1614Arg) single nucleotide variant Pathogenic rs122445094 GRCh37 Chromosome X, 76889170: 76889170
4 ATRX NM_000489.4(ATRX): c.4840T> C (p.Cys1614Arg) single nucleotide variant Pathogenic rs122445094 GRCh38 Chromosome X, 77633682: 77633682
5 ATRX NM_000489.4(ATRX): c.4950G> T (p.Lys1650Asn) single nucleotide variant Pathogenic rs122445095 GRCh37 Chromosome X, 76889060: 76889060
6 ATRX NM_000489.4(ATRX): c.4950G> T (p.Lys1650Asn) single nucleotide variant Pathogenic rs122445095 GRCh38 Chromosome X, 77633572: 77633572
7 ATRX NM_000489.4(ATRX): c.6104A> T (p.Asp2035Val) single nucleotide variant Pathogenic rs122445096 GRCh37 Chromosome X, 76849172: 76849172
8 ATRX NM_000489.4(ATRX): c.6104A> T (p.Asp2035Val) single nucleotide variant Pathogenic rs122445096 GRCh38 Chromosome X, 77593702: 77593702
9 ATRX NM_000489.4(ATRX): c.6250T> C (p.Tyr2084His) single nucleotide variant Pathogenic rs122445097 GRCh37 Chromosome X, 76829791: 76829791
10 ATRX NM_000489.4(ATRX): c.6250T> C (p.Tyr2084His) single nucleotide variant Pathogenic rs122445097 GRCh38 Chromosome X, 77574326: 77574326
11 ATRX NM_000489.4(ATRX): c.6488A> G (p.Tyr2163Cys) single nucleotide variant Pathogenic rs122445098 GRCh37 Chromosome X, 76814156: 76814156
12 ATRX NM_000489.4(ATRX): c.6488A> G (p.Tyr2163Cys) single nucleotide variant Pathogenic rs122445098 GRCh38 Chromosome X, 77558685: 77558685
13 ATRX NM_000489.4(ATRX): c.7156C> T (p.Arg2386Ter) single nucleotide variant Pathogenic rs122445099 GRCh37 Chromosome X, 76776310: 76776310
14 ATRX NM_000489.4(ATRX): c.7156C> T (p.Arg2386Ter) single nucleotide variant Pathogenic rs122445099 GRCh38 Chromosome X, 77520832: 77520832
15 ATRX NM_000489.4(ATRX): c.7162G> T (p.Glu2388Ter) single nucleotide variant Pathogenic rs122445100 GRCh37 Chromosome X, 76776304: 76776304
16 ATRX NM_000489.4(ATRX): c.7162G> T (p.Glu2388Ter) single nucleotide variant Pathogenic rs122445100 GRCh38 Chromosome X, 77520826: 77520826
17 ATRX ATRX, IVSAS, T-A, -10 single nucleotide variant Pathogenic
18 ATRX NM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln) single nucleotide variant Pathogenic rs122445101 GRCh37 Chromosome X, 76814252: 76814252
19 ATRX NM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln) single nucleotide variant Pathogenic rs122445101 GRCh38 Chromosome X, 77558781: 77558781
20 ATRX ATRX, 751A-G single nucleotide variant Pathogenic
21 ATRX NM_000489.4(ATRX): c.568C> G (p.Pro190Ala) single nucleotide variant Likely pathogenic rs122445103 GRCh37 Chromosome X, 76944337: 76944337
22 ATRX NM_000489.4(ATRX): c.568C> G (p.Pro190Ala) single nucleotide variant Likely pathogenic rs122445103 GRCh38 Chromosome X, 77688844: 77688844
23 ATRX NM_000489.4(ATRX): c.5225G> A (p.Arg1742Lys) single nucleotide variant Pathogenic rs122445104 GRCh37 Chromosome X, 76875910: 76875910
24 ATRX NM_000489.4(ATRX): c.5225G> A (p.Arg1742Lys) single nucleotide variant Pathogenic rs122445104 GRCh38 Chromosome X, 77620442: 77620442
25 ATRX NM_000489.4(ATRX): c.4862C> T (p.Thr1621Met) single nucleotide variant Pathogenic rs122445106 GRCh37 Chromosome X, 76889148: 76889148
26 ATRX NM_000489.4(ATRX): c.4862C> T (p.Thr1621Met) single nucleotide variant Pathogenic rs122445106 GRCh38 Chromosome X, 77633660: 77633660
27 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh37 Chromosome X, 76972632: 76972632
28 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh38 Chromosome X, 77717155: 77717155
29 ATRX NM_000489.4(ATRX): c.6718C> T (p.Leu2240Phe) single nucleotide variant not provided rs199474698 GRCh37 Chromosome X, 76778861: 76778861
30 ATRX NM_000489.4(ATRX): c.6718C> T (p.Leu2240Phe) single nucleotide variant not provided rs199474698 GRCh38 Chromosome X, 77523383: 77523383
31 ATRX NM_000489.4(ATRX): c.2169G> C (p.Glu723Asp) single nucleotide variant Benign/Likely benign rs61752456 GRCh37 Chromosome X, 76938579: 76938579
32 ATRX NM_000489.4(ATRX): c.2169G> C (p.Glu723Asp) single nucleotide variant Benign/Likely benign rs61752456 GRCh38 Chromosome X, 77683087: 77683087
33 ATRX NM_000489.4(ATRX): c.4120+4A> C single nucleotide variant Conflicting interpretations of pathogenicity rs200420513 GRCh37 Chromosome X, 76918867: 76918867
34 ATRX NM_000489.4(ATRX): c.4120+4A> C single nucleotide variant Conflicting interpretations of pathogenicity rs200420513 GRCh38 Chromosome X, 77663378: 77663378
35 ATRX NM_000489.4(ATRX): c.6405C> T (p.Phe2135=) single nucleotide variant Benign/Likely benign rs148659669 GRCh37 Chromosome X, 76814239: 76814239
36 ATRX NM_000489.4(ATRX): c.6405C> T (p.Phe2135=) single nucleotide variant Benign/Likely benign rs148659669 GRCh38 Chromosome X, 77558768: 77558768
37 ATRX NM_000489.4(ATRX): c.7366_7367delAT (p.Met2456Glufs) deletion Pathogenic/Likely pathogenic rs797044723 GRCh37 Chromosome X, 76763941: 76763942
38 ATRX NM_000489.4(ATRX): c.7366_7367delAT (p.Met2456Glufs) deletion Pathogenic/Likely pathogenic rs797044723 GRCh38 Chromosome X, 77508463: 77508464
39 ATRX NM_000489.4(ATRX): c.3091G> A (p.Gly1031Ser) single nucleotide variant Uncertain significance rs782781078 GRCh37 Chromosome X, 76937657: 76937657
40 ATRX NM_000489.4(ATRX): c.3091G> A (p.Gly1031Ser) single nucleotide variant Uncertain significance rs782781078 GRCh38 Chromosome X, 77682165: 77682165
41 ATRX NM_000489.4(ATRX): c.5787-8_5787-5delGTTT deletion Benign/Likely benign rs782072699 GRCh38 Chromosome X, 77599585: 77599588
42 ATRX NM_000489.4(ATRX): c.5787-8_5787-5delGTTT deletion Benign/Likely benign rs782072699 GRCh37 Chromosome X, 76855054: 76855057
43 ATRX NM_000489.4(ATRX): c.4626_4631delTGAAGA (p.Asp1542_Glu1543del) deletion Pathogenic rs797045406 GRCh37 Chromosome X, 76891474: 76891479
44 ATRX NM_000489.4(ATRX): c.4626_4631delTGAAGA (p.Asp1542_Glu1543del) deletion Pathogenic rs797045406 GRCh38 Chromosome X, 77635983: 77635988
45 ATRX NM_000489.4(ATRX): c.846C> T (p.Ser282=) single nucleotide variant Benign/Likely benign rs148015780 GRCh38 Chromosome X, 77684410: 77684410
46 ATRX NM_000489.4(ATRX): c.846C> T (p.Ser282=) single nucleotide variant Benign/Likely benign rs148015780 GRCh37 Chromosome X, 76939902: 76939902
47 ATRX NM_000489.4(ATRX): c.2785G> C (p.Glu929Gln) single nucleotide variant Benign rs3088074 GRCh38 Chromosome X, 77682471: 77682471
48 ATRX NM_000489.4(ATRX): c.2785G> C (p.Glu929Gln) single nucleotide variant Benign rs3088074 GRCh37 Chromosome X, 76937963: 76937963
49 ATRX NM_000489.4(ATRX): c.7435A> G (p.Met2479Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200478641 GRCh37 Chromosome X, 76763873: 76763873
50 ATRX NM_000489.4(ATRX): c.7435A> G (p.Met2479Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200478641 GRCh38 Chromosome X, 77508395: 77508395

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 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 DAXX HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE MRE11
2
Show member pathways
13.46 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 MRE11 NBN
10
Show member pathways
12.55 HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE RPA1
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
12.36 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 12.25 HIST1H2BL HIST1H4J HIST2H2BE TP53
18 12.23 MRE11 NBN RAD1 RAD50 RAD9A TP53
19
Show member pathways
12.12 MRE11 NBN RAD50 RPA1
20
Show member pathways
12.01 MRE11 NBN RAD50 XRCC5 XRCC6
21
Show member pathways
12.01 HIST1H2BL HIST1H4J HIST2H2BE MRE11 NBN PRKDC
22
Show member pathways
11.91 MRE11 NBN RAD50 RAD9A TP53
23
Show member pathways
11.88 HELLS MRE11 NBN RAD50 TP53
24 11.78 PRKDC RPA1 TP53
25 11.73 MRE11 NBN RAD1 RAD50 RAD9A XRCC5
26 11.65 ATRX PRKDC TP53
27 11.57 PRKDC XRCC5 XRCC6
28 11.56 MRE11 NBN PRKDC RAD50
29 11.48 MRE11 RAD50 TP53
30 11.45 NBN RAD9A TP53
31 11.38 HIST1H4J TP53 XRCC6
32 11.07 RAD1 RAD9A TP53
33 11.01 MRE11 NBN PRKDC RAD50 XRCC5 XRCC6
34
Show member pathways
10.99 MRE11 NBN RAD50
35 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 protein-DNA complex GO:0032993 9.71 PRKDC XRCC5 XRCC6
6 site of double-strand break GO:0035861 9.67 MRE11 NBN RAD50
7 nonhomologous end joining complex GO:0070419 9.61 PRKDC XRCC5 XRCC6
8 nuclear chromosome, telomeric region GO:0000784 9.61 ATRX HIST1H4J MRE11 NBN PRKDC RAD50
9 Mre11 complex GO:0030870 9.58 MRE11 NBN RAD50
10 pericentric heterochromatin GO:0005721 9.57 ATRX HELLS
11 nuclear telomere cap complex GO:0000783 9.56 XRCC5 XRCC6
12 checkpoint clamp complex GO:0030896 9.55 RAD1 RAD9A
13 SWI/SNF superfamily-type complex GO:0070603 9.52 ATRX DAXX
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 nucleoplasm GO:0005654 10.09 ATRX DAXX HIST1H2BL HIST1H4J HIST2H2BE MRE11
18 nucleolus GO:0005730 10.05 DAXX NBN PRKDC SSRP1 TP53 XRCC5

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.97 MRE11 NBN RAD1 RAD50 RAD9A RPA1
2 nucleosome assembly GO:0006334 9.95 ATRX DAXX HIST1H1C HIST1H2BL HIST1H4J HIST2H2BE
3 DNA recombination GO:0006310 9.95 ATRX MRE11 PRKDC RAD50 RPA1 XRCC5
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.93 MRE11 RAD1 RAD50 RAD9A
5 DNA duplex unwinding GO:0032508 9.91 ATRX MRE11 NBN RAD50 XRCC5 XRCC6
6 double-strand break repair GO:0006302 9.89 MRE11 NBN PRKDC RAD50 XRCC5
7 double-strand break repair via homologous recombination GO:0000724 9.88 MRE11 NBN RAD50 RPA1
8 double-strand break repair via nonhomologous end joining GO:0006303 9.87 HIST1H4J MRE11 NBN PRKDC RAD50 XRCC5
9 chromatin remodeling GO:0006338 9.86 ATRX DAXX SSRP1
10 meiotic cell cycle GO:0051321 9.85 MRE11 NBN RAD50
11 positive regulation of type I interferon production GO:0032481 9.85 MRE11 PRKDC XRCC5 XRCC6
12 positive regulation of kinase activity GO:0033674 9.84 MRE11 NBN RAD50
13 positive regulation of protein kinase activity GO:0045860 9.83 DAXX XRCC5 XRCC6
14 telomere capping GO:0016233 9.83 HIST1H4J NBN PRKDC RAD50
15 base-excision repair GO:0006284 9.81 MRE11 RPA1 TP53
16 regulation of signal transduction by p53 class mediator GO:1901796 9.81 MRE11 NBN RAD1 RAD50 RAD9A RPA1
17 DNA synthesis involved in DNA repair GO:0000731 9.8 MRE11 NBN RAD50
18 cellular response to ionizing radiation GO:0071479 9.8 RAD1 RAD9A TP53
19 telomere maintenance GO:0000723 9.8 MRE11 NBN PRKDC RAD50 RPA1 XRCC5
20 DNA damage checkpoint GO:0000077 9.79 NBN RAD1 RAD9A
21 cellular response to gamma radiation GO:0071480 9.79 TP53 XRCC5 XRCC6
22 strand displacement GO:0000732 9.78 MRE11 NBN RAD50
23 positive regulation of protein autophosphorylation GO:0031954 9.77 MRE11 NBN RAD50
24 cellular response to DNA damage stimulus GO:0006974 9.77 ATRX MRE11 NBN PRKDC RAD1 RAD50
25 activation of innate immune response GO:0002218 9.76 PRKDC XRCC5 XRCC6
26 positive regulation of telomere maintenance GO:0032206 9.76 ATRX MRE11 NBN RAD50
27 DNA double-strand break processing GO:0000729 9.74 MRE11 NBN RAD50
28 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.73 ATRX NBN TP53
29 regulation of smooth muscle cell proliferation GO:0048660 9.71 PRKDC XRCC5 XRCC6
30 telomere maintenance via telomerase GO:0007004 9.69 MRE11 RAD50
31 telomeric 3 overhang formation GO:0031860 9.69 MRE11 NBN RAD50
32 mitotic G2 DNA damage checkpoint GO:0007095 9.68 MRE11 NBN
33 intra-S DNA damage checkpoint GO:0031573 9.68 MRE11 RAD9A
34 cellular response to X-ray GO:0071481 9.67 XRCC5 XRCC6
35 protein localization to chromosome, telomeric region GO:0070198 9.67 ATRX XRCC5
36 chromosome organization involved in meiotic cell cycle GO:0070192 9.66 ATRX RAD50
37 establishment of integrated proviral latency GO:0075713 9.66 XRCC5 XRCC6
38 negative regulation of telomere capping GO:1904354 9.65 NBN RAD50
39 cellular hyperosmotic salinity response GO:0071475 9.64 XRCC5 XRCC6
40 regulation of mitotic recombination GO:0000019 9.6 MRE11 RAD50
41 DNA repair GO:0006281 9.4 ATRX MRE11 NBN PRKDC RAD1 RAD50
42 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 19)
# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.88 DAXX HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE TP53
2 helicase activity GO:0004386 9.78 ATRX HELLS XRCC5 XRCC6
3 nuclease activity GO:0004518 9.75 MRE11 RAD1 RAD9A
4 protein N-terminus binding GO:0047485 9.73 DAXX NBN TP53
5 histone binding GO:0042393 9.73 ATRX DAXX HIST1H4J SUPT16H
6 exonuclease activity GO:0004527 9.7 MRE11 RAD1 RAD9A
7 double-stranded DNA binding GO:0003690 9.67 MRE11 PRKDC XRCC5 XRCC6
8 3-5 exonuclease activity GO:0008408 9.56 MRE11 RAD1 RAD50 RAD9A
9 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.54 MRE11 RAD50
10 double-stranded telomeric DNA binding GO:0003691 9.5 RAD50 XRCC5 XRCC6
11 5-deoxyribose-5-phosphate lyase activity GO:0051575 9.49 XRCC5 XRCC6
12 exodeoxyribonuclease III activity GO:0008853 9.46 RAD1 RAD9A
13 ATP-dependent DNA helicase activity GO:0004003 9.35 MRE11 NBN RAD50 XRCC5 XRCC6
14 damaged DNA binding GO:0003684 9.1 NBN RAD1 RPA1 TP53 XRCC5 XRCC6
15 protein binding GO:0005515 10.46 ATRX DAXX HELLS HIST1H1C HIST1H2AB HIST1H4J
16 hydrolase activity GO:0016787 10.15 ATRX HELLS MRE11 RAD1 RAD50 RAD9A
17 RNA binding GO:0003723 10.13 HIST1H1C HIST1H4J PRKDC SSRP1 SUPT16H XRCC5
18 ATP binding GO:0005524 10.11 ATRX HELLS PRKDC RAD50 TP53 XRCC5
19 DNA binding GO:0003677 10 ATRX HIST1H1C HIST1H2AB HIST1H2BL HIST1H4J HIST2H2BE

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
Content
Loading form....