ATRX
MCID: ALP100
MIFTS: 62

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

Categories: Blood diseases, Genetic diseases, Mental diseases, Neuronal 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 6
Alpha-Thalassemia/mental Retardation Syndrome 57 29 13 6
Atr-X Syndrome 57 72 36 54
Alpha Thalassemia-Mental Retardation Syndrome 29 70
Atr-X 73 72
Atrx 57 72
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 70
Alpha-Thalassemia/mental Retardation Syndrome Non-Deletion Type X-Linked 72
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type 57
Alpha-Thalassemia Mental Retardation Syndrome, X-Linked 72
X-Linked Alpha Thalassemia Mental Retardation Syndrome 73
Thalassemia, Alpha/mental Retardation Syndrome 39
Alpha-Thalassemia Mental Retardation Syndrome 73
Mental Retardation, X-Linked 44
Atr, Nondeletion Type 57
Atr Nondeletion Type 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
variable phenotype
x-linked mental retardation-hypotonic facies syndrome is an allelic disorder without alpha-thalassemia

Inheritance:
x-linked dominant


HPO:

31
alpha-thalassemia/mental retardation syndrome, x-linked:
Inheritance x-linked dominant inheritance


Classifications:



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

KEGG : 36 X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome) is a rare syndromic form of X-linked mental retardation. It is characterized by severe mental retardation in males, characteristic facial appearance, alpha thalassaemia, genital anomalies, skeletal abnormalities, and characteristic posture and/or behavior. ATR-X syndrome is caused by a mutation in the ATRX gene, a critical factor involved in heterochromatin formation at mammalian centromeres and telomeres.

MalaCards based summary : Alpha-Thalassemia/mental Retardation Syndrome, X-Linked, also known as alpha-thalassemia/mental retardation syndrome, is related to hyperoxaluria, primary, type i and spinal cord oligodendroglioma, 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. The drugs Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include myeloid, pituitary and tongue, and related phenotypes are seizure and intellectual disability

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental... more...

More information 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 306)
# Related Disease Score Top Affiliating Genes
1 hyperoxaluria, primary, type i 31.4 H4C11 H2BC21 ATRX
2 spinal cord oligodendroglioma 31.3 TP53 ATRX
3 adult astrocytic tumour 31.3 TP53 ATRX
4 gemistocytic astrocytoma 31.3 TP53 ATRX
5 diffuse midline glioma, h3 k27m-mutant 31.3 TP53 DAXX ATRX
6 mixed oligodendroglioma-astrocytoma 31.2 TP53 ATRX
7 mixed glioma 31.2 TP53 ATRX
8 primary hyperoxaluria 30.9 H4C11 H2BC21 ATRX
9 li-fraumeni syndrome 30.9 TP53 MRE11 ATRX
10 high-grade astrocytoma 30.0 TP53 ATRX
11 microcephaly 29.9 XRCC6 XRCC5 TP53 RAD50 PRKDC NBN
12 xeroderma pigmentosum, variant type 29.0 XRCC6 XRCC5 TP53 RPA1 RAD9A PRKDC
13 fanconi anemia, complementation group a 28.4 XRCC6 XRCC5 TP53 RPA1 RAD9A RAD50
14 alpha-thalassemia 26.1 XRCC6 XRCC5 TP53 SUPT16H SSRP1 RPA1
15 mental retardation, x-linked, with or without seizures, arx-related 12.0
16 mental retardation, x-linked, syndromic 13 12.0
17 mental retardation, x-linked, syndromic, cabezas type 11.9
18 pettigrew syndrome 11.9
19 mental retardation, x-linked 12 11.9
20 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 11.8
21 mental retardation, x-linked, with panhypopituitarism 11.8
22 mental retardation, x-linked, syndromic, hedera type 11.8
23 mental retardation, x-linked 97 11.8
24 mental retardation, x-linked, syndromic, nascimento type 11.8
25 wilson-turner x-linked mental retardation syndrome 11.8
26 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 11.8
27 mental retardation, x-linked, syndromic, claes-jensen type 11.8
28 mental retardation, x-linked, syndromic 32 11.8
29 mental retardation, x-linked, syndromic 34 11.8
30 methylmalonic acidemia and homocysteinemia, cblx type 11.8
31 renpenning syndrome 1 11.8
32 mental retardation, x-linked 21 11.8
33 mental retardation, x-linked, syndromic, martin-probst type 11.8
34 mental retardation, x-linked 96 11.8
35 mental retardation, x-linked, syndromic, christianson type 11.8
36 intellectual developmental disorder, x-linked, syndromic, wu type 11.8
37 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.8
38 mental retardation, x-linked 98 11.8
39 mental retardation, x-linked 99 11.8
40 mental retardation, x-linked 100 11.8
41 mental retardation, x-linked 101 11.8
42 mental retardation, x-linked 92 11.7
43 mental retardation, x-linked, syndromic 33 11.7
44 mental retardation, x-linked 103 11.7
45 mental retardation, x-linked 104 11.7
46 mental retardation, x-linked 105 11.7
47 mental retardation, x-linked, syndromic, 35 11.7
48 intellectual developmental disorder, x-linked 109 11.7
49 raynaud-claes syndrome 11.7
50 mehmo syndrome 11.7

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

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

31 (show all 47)
# Description HPO Frequency HPO Source Accession
1 seizure 31 frequent (33%) HP:0001250
2 intellectual disability 31 HP:0001249
3 spasticity 31 HP:0001257
4 constipation 31 HP:0002019
5 macroglossia 31 HP:0000158
6 global developmental delay 31 HP:0001263
7 depressed nasal bridge 31 HP:0005280
8 hypertelorism 31 HP:0000316
9 umbilical hernia 31 HP:0001537
10 short nose 31 HP:0003196
11 microtia 31 HP:0008551
12 microcephaly 31 HP:0000252
13 sensorineural hearing impairment 31 HP:0000407
14 anteverted nares 31 HP:0000463
15 gastroesophageal reflux 31 HP:0002020
16 thick lower lip vermilion 31 HP:0000179
17 cryptorchidism 31 HP:0000028
18 growth delay 31 HP:0001510
19 postnatal growth retardation 31 HP:0008897
20 low-set ears 31 HP:0000369
21 epicanthus 31 HP:0000286
22 talipes equinovarus 31 HP:0001762
23 kyphoscoliosis 31 HP:0002751
24 protruding tongue 31 HP:0010808
25 micropenis 31 HP:0000054
26 hydronephrosis 31 HP:0000126
27 hemivertebrae 31 HP:0002937
28 malar flattening 31 HP:0000272
29 hypospadias 31 HP:0000047
30 ventricular septal defect 31 HP:0001629
31 coxa valga 31 HP:0002673
32 tapered finger 31 HP:0001182
33 abnormality of metabolism/homeostasis 31 HP:0001939
34 shawl scrotum 31 HP:0000049
35 posteriorly rotated ears 31 HP:0000358
36 cerebral atrophy 31 HP:0002059
37 renal agenesis 31 HP:0000104
38 u-shaped upper lip vermilion 31 HP:0010806
39 radial deviation of finger 31 HP:0009466
40 absent frontal sinuses 31 HP:0002688
41 clinodactyly 31 HP:0030084
42 hypochromic microcytic anemia 31 HP:0004840
43 infantile muscular hypotonia 31 HP:0008947
44 hbh hemoglobin 31 HP:0011903
45 perimembranous ventricular septal defect 31 HP:0011682
46 widely-spaced maxillary central incisors 31 HP:0001566
47 reduced alpha/beta synthesis ratio 31 HP:0011907

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

Abdomen External Features:
umbilical hernia

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

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

Skeletal Spine:
kyphoscoliosis
hemivertebra

Genitourinary Kidneys:
hydronephrosis
renal agenesis

Skeletal Pelvis:
coxa valga

Skeletal Hands:
clinodactyly
tapering fingers

Growth Other:
postnatal growth deficiency

Head And Neck Teeth:
widely-spaced upper incisors

Laboratory Abnormalities:
hb h erythrocyte inclusions

Head And Neck Eyes:
hypertelorism
epicanthal folds

Head And Neck Head:
microcephaly
absent frontal sinuses

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
talipes equinovarus

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

Genitourinary External Genitalia Male:
hypospadias
shawl scrotum
small penis

Neurologic Central Nervous System:
cerebral atrophy
mental retardation
hypotonia early
delayed developmental milestones
expressive speech absent
more
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 (Updated 20-May-2021)

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 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.2 PRKDC XRCC5 XRCC6
2 Decreased viability GR00221-A-2 10.2 XRCC5 XRCC6
3 Decreased viability GR00240-S-1 10.2 RAD9A SSRP1 TP53
4 Decreased viability GR00249-S 10.2 PRKDC RPA1 TP53 XRCC6
5 Decreased viability GR00301-A 10.2 RPA1
6 Decreased viability GR00386-A-1 10.2 DAXX H2AC4 RAD1 RPA1 XRCC6
7 Decreased viability GR00402-S-2 10.2 RPA1 SSRP1 TP53 XRCC6
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.95 DAXX MRE11 NBN RAD1 RAD50 RPA1
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.95 DAXX MRE11 PRKDC RAD1 RAD50 RPA1
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.95 MRE11 NBN PRKDC RAD1 RAD50 RPA1
11 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.8 H2BC13 PRKDC TP53
12 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.8 DAXX H2BC13 NBN RAD1 RAD9A TP53
13 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.8 MRE11 NBN RAD1 RAD50 TP53

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 ATRX DAXX H1-2 HELLS MRE11 NBN
2 growth/size/body region MP:0005378 10.22 ATRX DAXX H1-2 HELLS NBN PRKDC
3 embryo MP:0005380 10.17 ATRX DAXX H1-2 HELLS MRE11 NBN
4 mortality/aging MP:0010768 10.17 ATRX DAXX H1-2 HELLS MRE11 NBN
5 immune system MP:0005387 10.11 H1-2 HELLS MRE11 NBN PRKDC RAD1
6 nervous system MP:0003631 9.93 ATRX DAXX H1-2 MRE11 NBN PRKDC
7 neoplasm MP:0002006 9.91 MRE11 NBN PRKDC RAD50 RAD9A RPA1
8 pigmentation MP:0001186 9.35 HELLS PRKDC RAD50 RAD9A TP53
9 reproductive system MP:0005389 9.32 ATRX H1-2 HELLS MRE11 NBN PRKDC

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

Drugs for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
2 Hypoglycemic Agents Phase 2, Phase 3
3 Astragalus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
2 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
3 Clinical Phenotyping and Characterization of Neural Networks and Cognitive Processes Involved in Mental Retardation X-linked Unknown status NCT02854956
4 Genetic Disease Gene Identification Unknown status NCT00916903
5 The Seaver Autism Center for Research and Treatment - Assessment Core Recruiting NCT03718910

Search 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 Alpha Thalassemia-Mental Retardation Syndrome 29
2 Alpha-Thalassemia/mental Retardation Syndrome 29

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

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

40
Myeloid, Pituitary, Tongue, Brain, Lung, Bone, Thymus

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

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

(show top 50) (show all 187)
# Title Authors PMID Year
1
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia. 61 54 6 57
8644709 1996
2
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). 57 6 61
7697714 1995
3
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. 57 6
16955409 2006
4
Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias. 6 57
10417298 1999
5
Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers. 6 57
9598720 1998
6
Partial ATRX gene duplication causes ATR-X syndrome. 61 54 57
19764021 2009
7
Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome. 54 57 61
19088125 2009
8
Partial duplications of the ATRX gene cause the ATR-X syndrome. 57 54 61
17579672 2007
9
Molecular-clinical spectrum of the ATR-X syndrome. 54 61 57
11449489 2000
10
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. 61 6 54
8968741 1996
11
Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome. 61 6
23681356 2013
12
Functional significance of mutations in the Snf2 domain of ATRX. 6 61
21505078 2011
13
Gastrointestinal phenotype of ATR-X syndrome. 57 61
16688741 2006
14
Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. 61 6
9244431 1997
15
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). 61 57
7726225 1995
16
Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome. 61 57
7726224 1995
17
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. 57 61
7726227 1995
18
Alpha thalassaemia mental retardation (ATR-X): an atypical family. 57 61
8017970 1994
19
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. 61 57
1415255 1992
20
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. 6
31130284 2019
21
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 6
25590979 2015
22
[Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome]. 6
24327140 2013
23
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability. 6
20500465 2010
24
X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene. 57
19444090 2009
25
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. 57
16813605 2006
26
A new detection method for ATRX gene mutations using a mismatch-specific endonuclease. 6
16763962 2006
27
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. 57
16100724 2005
28
Expanding phenotype of XNP mutations: mild to moderate mental retardation. 6
12116232 2002
29
Human diseases with underlying defects in chromatin structure and modification. 57
11673406 2001
30
Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). 6
10995512 2000
31
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. 6
9326931 1997
32
A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer. 57
9363663 1997
33
Self-induced vomiting in X-linked alpha-thalassemia/mental retardation syndrome. 57
8967323 1996
34
Integration of gene maps: chromosome X. 57
8001970 1994
35
A mutation in CFTR produces different phenotypes depending on chromosomal background. 6
7506096 1993
36
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq. 57
8166423 1993
37
Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance. 57
1770528 1991
38
A newly defined X linked mental retardation syndrome associated with alpha thalassaemia. 57
1770527 1991
39
The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage. 57
1770530 1991
40
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance. 57
1941971 1991
41
Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male. 57
2231651 1990
42
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. 57
2339705 1990
43
Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia. 57
2352265 1990
44
Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) 57
3177467 1988
45
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. 6
3658675 1987
46
Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? 57
6267462 1981
47
[X-linked alpha-thalassemia/mental retardation syndrome]. 54 61
19489441 2009
48
Patient mutations alter ATRX targeting to PML nuclear bodies. 61 54
17957225 2008
49
A novel splicing mutation of the ATRX gene in ATR-X syndrome. 54 61
16376512 2006
50
A novel 5' ATRX mutation with splicing consequences in acquired alpha thalassemia-myelodysplastic syndrome. 61 54
16266892 2005

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

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

6 (show top 50) (show all 408)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATRX NM_000489.5(ATRX):c.4620_4625TGAAGA[1] (p.1540_1541DE[1]) Microsatellite Pathogenic 210497 rs797045406 GRCh37: X:76891474-76891479
GRCh38: X:77635983-77635988
2 ATRX NM_000489.5(ATRX):c.6392G>A (p.Arg2131Gln) SNV Pathogenic 11731 rs122445101 GRCh37: X:76814252-76814252
GRCh38: X:77558781-77558781
3 ATRX NM_000489.5(ATRX):c.6122G>A (p.Ser2041Asn) SNV Pathogenic 397524 rs1060499658 GRCh37: X:76845399-76845399
GRCh38: X:77589929-77589929
4 ATRX NM_000489.5(ATRX):c.4865C>T (p.Ala1622Val) SNV Pathogenic 431119 rs1135401793 GRCh37: X:76889145-76889145
GRCh38: X:77633657-77633657
5 ATRX NM_000489.5(ATRX):c.4317G>A (p.Lys1439=) SNV Pathogenic 560933 rs1569535642 GRCh37: X:76909588-76909588
GRCh38: X:77654098-77654098
6 ATRX NM_000489.5(ATRX):c.5039T>C (p.Ile1680Thr) SNV Pathogenic 547182 rs1557106482 GRCh37: X:76888790-76888790
GRCh38: X:77633302-77633302
7 ATRX NM_000489.5(ATRX):c.4558-3T>G SNV Pathogenic 694709 rs1602996115 GRCh37: X:76891550-76891550
GRCh38: X:77636059-77636059
8 ATRX NC_000023.10:g.(?_76944291)_(76972740_?)del Deletion Pathogenic 640984 GRCh37: X:76944291-76972740
GRCh38:
9 ATRX NM_138270.4(ATRX):c.370+2746del Deletion Pathogenic 689744 rs1603240572 GRCh37: X:76949320-76949320
GRCh38: X:77693831-77693831
10 ATRX NM_000489.5(ATRX):c.4862C>T (p.Thr1621Met) SNV Pathogenic 11739 rs122445106 GRCh37: X:76889148-76889148
GRCh38: X:77633660-77633660
11 ATRX NM_000489.5(ATRX):c.5225G>A (p.Arg1742Lys) SNV Pathogenic 11736 rs122445104 GRCh37: X:76875910-76875910
GRCh38: X:77620442-77620442
12 ATRX NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) SNV Pathogenic 11734 rs122445103 GRCh37: X:76944337-76944337
GRCh38: X:77688844-77688844
13 ATRX NM_000489.5(ATRX):c.751A>G (p.Lys251Glu) SNV Pathogenic 11733 rs1569539477 GRCh37: X:76939997-76939997
GRCh38: X:77684505-77684505
14 ATRX ATRX, IVSAS, T-A, -10 SNV Pathogenic 11730 GRCh37:
GRCh38:
15 ATRX NM_000489.5(ATRX):c.7162G>T (p.Glu2388Ter) SNV Pathogenic 11729 rs122445100 GRCh37: X:76776304-76776304
GRCh38: X:77520826-77520826
16 ATRX NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter) SNV Pathogenic 11728 rs122445099 GRCh37: X:76776310-76776310
GRCh38: X:77520832-77520832
17 ATRX NM_000489.5(ATRX):c.6488A>G (p.Tyr2163Cys) SNV Pathogenic 11727 rs122445098 GRCh37: X:76814156-76814156
GRCh38: X:77558685-77558685
18 ATRX NM_000489.5(ATRX):c.6250T>C (p.Tyr2084His) SNV Pathogenic 11726 rs122445097 GRCh37: X:76829791-76829791
GRCh38: X:77574326-77574326
19 ATRX NM_000489.5(ATRX):c.6104A>T (p.Asp2035Val) SNV Pathogenic 11725 rs122445096 GRCh37: X:76849172-76849172
GRCh38: X:77593702-77593702
20 ATRX NM_000489.5(ATRX):c.4950G>T (p.Lys1650Asn) SNV Pathogenic 11723 rs122445095 GRCh37: X:76889060-76889060
GRCh38: X:77633572-77633572
21 ATRX NM_000489.5(ATRX):c.4840T>C (p.Cys1614Arg) SNV Pathogenic 11722 rs122445094 GRCh37: X:76889170-76889170
GRCh38: X:77633682-77633682
22 ATRX NM_000489.5(ATRX):c.4826A>G (p.His1609Arg) SNV Pathogenic 11721 rs122445093 GRCh37: X:76889184-76889184
GRCh38: X:77633696-77633696
23 ATRX NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter) SNV Pathogenic 838105 GRCh37: X:76939021-76939021
GRCh38: X:77683529-77683529
24 ATRX NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer) Deletion Pathogenic 847375 GRCh37: X:76918872-76918875
GRCh38: X:77663383-77663386
25 ATRX NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter) SNV Pathogenic 954615 GRCh37: X:76776325-76776325
GRCh38: X:77520847-77520847
26 ATRX NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter) SNV Pathogenic 961507 GRCh37: X:76918922-76918922
GRCh38: X:77663433-77663433
27 ATRX NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter) SNV Pathogenic 976030 GRCh37: X:76939021-76939021
GRCh38: X:77683529-77683529
28 ATRX NM_000489.5(ATRX):c.7205del (p.Ile2402fs) Deletion Pathogenic 633696 rs1569513017 GRCh37: X:76764103-76764103
GRCh38: X:77508625-77508625
29 ATRX NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) SNV Pathogenic 11742 rs122445108 GRCh37: X:76972632-76972632
GRCh38: X:77717155-77717155
30 ATRX NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) SNV Pathogenic 11735 rs122445105 GRCh37: X:76940012-76940012
GRCh38: X:77684520-77684520
31 ATRX NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) SNV Pathogenic 11735 rs122445105 GRCh37: X:76940012-76940012
GRCh38: X:77684520-77684520
32 ATRX NM_000489.5(ATRX):c.536A>G (p.Asn179Ser) SNV Pathogenic 93141 rs398123425 GRCh37: X:76944369-76944369
GRCh38: X:77688876-77688876
33 ATRX NM_000489.5(ATRX):c.569C>T (p.Pro190Leu) SNV Likely pathogenic 374337 rs1057518708 GRCh37: X:76944336-76944336
GRCh38: X:77688843-77688843
34 ATRX NM_000489.5(ATRX):c.4957-4A>G SNV Likely pathogenic 807773 rs1602979818 GRCh37: X:76888876-76888876
GRCh38: X:77633388-77633388
35 ATRX NM_000489.6(ATRX):c.77C>A (p.Ser26Ter) SNV Likely pathogenic 977684 GRCh37: X:76972664-76972664
GRCh38: X:77717187-77717187
36 ATRX NM_000489.5(ATRX):c.6254G>A (p.Arg2085His) SNV Likely pathogenic 372728 rs1057517948 GRCh37: X:76829787-76829787
GRCh38: X:77574322-77574322
37 ATRX NM_000489.5(ATRX):c.6104A>G (p.Asp2035Gly) SNV Likely pathogenic 804033 rs122445096 GRCh37: X:76849172-76849172
GRCh38: X:77593702-77593702
38 ATRX NM_000489.5(ATRX):c.5405A>C (p.Lys1802Thr) SNV Likely pathogenic 804034 rs1602876401 GRCh37: X:76874317-76874317
GRCh38: X:77618849-77618849
39 ATRX NM_000489.5(ATRX):c.729C>G (p.Cys243Trp) SNV Likely pathogenic 391590 rs1057524153 GRCh37: X:76940019-76940019
GRCh38: X:77684527-77684527
40 ATRX NM_000489.5(ATRX):c.5048A>G (p.Tyr1683Cys) SNV Likely pathogenic 692089 rs1602979414 GRCh37: X:76888781-76888781
GRCh38: X:77633293-77633293
41 ATRX NM_000489.5(ATRX):c.7192C>T (p.Gln2398Ter) SNV Likely pathogenic 560706 rs1569515457 GRCh37: X:76776274-76776274
GRCh38: X:77520796-77520796
42 ATRX NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) SNV Likely pathogenic 11734 rs122445103 GRCh37: X:76944337-76944337
GRCh38: X:77688844-77688844
43 ATRX NM_138270.4(ATRX):c.5854_5856TCT[2] (p.Ser1954del) Microsatellite Conflicting interpretations of pathogenicity 587525 rs782391479 GRCh37: X:76849300-76849302
GRCh38: X:77593830-77593832
44 ATRX NM_000489.5(ATRX):c.4353_4355GGA[2] (p.Glu1464del) Microsatellite Conflicting interpretations of pathogenicity 533623 rs782630348 GRCh37: X:76907800-76907802
GRCh38: X:77652310-77652312
45 ATRX NM_000489.5(ATRX):c.2262T>G (p.Ile754Met) SNV Uncertain significance 533632 rs1557140015 GRCh37: X:76938486-76938486
GRCh38: X:77682994-77682994
46 ATRX NM_000489.5(ATRX):c.5565A>G (p.Thr1855=) SNV Uncertain significance 533631 rs1557096967 GRCh37: X:76872082-76872082
GRCh38: X:77616614-77616614
47 ATRX NM_000489.5(ATRX):c.2304G>C (p.Lys768Asn) SNV Uncertain significance 521943 rs1557139920 GRCh37: X:76938444-76938444
GRCh38: X:77682952-77682952
48 ATRX NM_000489.5(ATRX):c.3498_3500del (p.Lys1169del) Deletion Uncertain significance 533630 rs782695846 GRCh37: X:76937248-76937250
GRCh38: X:77681756-77681758
49 ATRX NM_000489.5(ATRX):c.189G>A (p.Glu63=) SNV Uncertain significance 133644 rs587778082 GRCh37: X:76954062-76954062
GRCh38: X:77698574-77698574
50 ATRX NM_000489.5(ATRX):c.4210A>G (p.Thr1404Ala) SNV Uncertain significance 533629 rs781835568 GRCh37: X:76912054-76912054
GRCh38: X:77656564-77656564

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

72 (show all 28)
# Symbol AA change Variation ID SNP ID
1 ATRX p.Pro190Ala VAR_001226 rs122445103
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 rs122445105
8 ATRX p.Gly249Asp VAR_001233
9 ATRX p.His1609Arg VAR_001234 rs122445093
10 ATRX p.Cys1614Arg VAR_001235 rs122445094
11 ATRX p.Lys1650Asn VAR_001236 rs122445095
12 ATRX p.Asp2035Val VAR_001238 rs122445096
13 ATRX p.Tyr2084His VAR_001239 rs122445097
14 ATRX p.Tyr2163Cys VAR_001241 rs122445098
15 ATRX p.Arg246Leu VAR_010914
16 ATRX p.Gly175Glu VAR_012113
17 ATRX p.Asn179Ser VAR_012115 rs398123425
18 ATRX p.Pro190Leu VAR_012116 rs105751870
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 rs122445104
27 ATRX p.Tyr1847Cys VAR_012126
28 ATRX p.Thr1621Met VAR_016916 rs122445106

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

7
# CNVD ID Chromosome 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
13.8 TP53 SUPT16H SSRP1 RPA1 RAD9A RAD50
2
Show member pathways
13.45 TP53 RPA1 RAD9A RAD50 RAD1 NBN
3
Show member pathways
13.16 TP53 RPA1 RAD50 NBN MRE11 H4C11
4
Show member pathways
12.99 TP53 SUPT16H SSRP1 RPA1 RAD9A RAD50
5
Show member pathways
12.97 XRCC6 XRCC5 TP53 RPA1 RAD9A RAD50
6
Show member pathways
12.74 XRCC6 XRCC5 TP53 RAD9A RAD50 RAD1
7
Show member pathways
12.67 TP53 RPA1 RAD9A RAD50 RAD1 NBN
8 12.58 XRCC6 XRCC5 TP53 RPA1 RAD9A RAD50
9
Show member pathways
12.56 RPA1 RAD50 NBN MRE11 H4C11 H2BC21
10
Show member pathways
12.55 RPA1 H4C11 H2BC21 H2BC13 H2AC4
11
Show member pathways
12.47 XRCC6 XRCC5 PRKDC MRE11
12
Show member pathways
12.45 TP53 RAD9A RAD50 RAD1 PRKDC NBN
13 12.37 SUPT16H SSRP1 HELLS ATRX
14
Show member pathways
12.37 RPA1 RAD9A RAD50 RAD1 NBN MRE11
15
Show member pathways
12.33 RPA1 RAD9A RAD1 H1-2
16
Show member pathways
12.32 TP53 RAD50 NBN MRE11 H4C11 H2BC21
17 12.26 TP53 H4C11 H2BC21 H2BC13
18 12.23 TP53 RAD9A RAD50 RAD1 NBN MRE11
19
Show member pathways
12.1 RPA1 RAD50 NBN MRE11
20
Show member pathways
12.01 XRCC6 XRCC5 TP53 RAD50 PRKDC NBN
21
Show member pathways
11.92 TP53 RAD9A RAD50 NBN MRE11
22
Show member pathways
11.88 TP53 RAD50 NBN MRE11 HELLS
23 11.78 TP53 RPA1 PRKDC
24 11.73 XRCC6 XRCC5 RAD9A RAD50 RAD1 NBN
25 11.65 TP53 PRKDC ATRX
26 11.57 XRCC6 XRCC5 PRKDC
27 11.56 RAD50 PRKDC NBN MRE11
28 11.48 TP53 RAD50 MRE11
29 11.45 TP53 RAD9A NBN
30 11.38 XRCC6 TP53 H4C11
31
Show member pathways
11.3 XRCC6 XRCC5 RAD50 NBN MRE11
32 11.11 XRCC6 XRCC5 RAD50 PRKDC NBN MRE11
33 11.07 TP53 RAD9A RAD1
34
Show member pathways
10.99 RAD50 NBN MRE11
35 10.63 XRCC6 XRCC5 TP53 RAD50 PRKDC NBN

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 16)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.19 XRCC6 XRCC5 TP53 SUPT16H SSRP1 RPA1
2 nucleus GO:0005634 10.16 XRCC6 XRCC5 TP53 SUPT16H SSRP1 RPA1
3 nucleolus GO:0005730 10.1 XRCC6 XRCC5 TP53 SSRP1 PRKDC NBN
4 PML body GO:0016605 9.8 TP53 RPA1 NBN MRE11 DAXX ATRX
5 nucleosome GO:0000786 9.77 H4C11 H2BC21 H2BC13 H2AC4 H1-2
6 site of double-strand break GO:0035861 9.76 TP53 RAD50 NBN MRE11
7 protein-DNA complex GO:0032993 9.7 XRCC6 XRCC5 PRKDC
8 replication fork GO:0005657 9.65 TP53 NBN MRE11
9 nonhomologous end joining complex GO:0070419 9.61 XRCC6 XRCC5 PRKDC
10 chromosome, telomeric region GO:0000781 9.61 XRCC6 XRCC5 RPA1 RAD50 PRKDC NBN
11 Mre11 complex GO:0030870 9.58 RAD50 NBN MRE11
12 nuclear telomere cap complex GO:0000783 9.55 XRCC6 XRCC5
13 checkpoint clamp complex GO:0030896 9.54 RAD9A RAD1
14 FACT complex GO:0035101 9.51 SUPT16H SSRP1
15 chromosome GO:0005694 9.5 XRCC6 XRCC5 SUPT16H SSRP1 RAD50 RAD1
16 Ku70:Ku80 complex GO:0043564 9.49 XRCC6 XRCC5

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 10.15 XRCC6 XRCC5 TP53 SUPT16H SSRP1 RAD50
2 nucleosome assembly GO:0006334 9.99 H4C11 H2BC21 H2BC13 H1-2 DAXX ATRX
3 DNA replication GO:0006260 9.97 SUPT16H SSRP1 RPA1 RAD9A RAD50 RAD1
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.95 RAD9A RAD50 RAD1 MRE11
5 DNA recombination GO:0006310 9.95 XRCC6 XRCC5 RPA1 RAD50 PRKDC MRE11
6 meiotic cell cycle GO:0051321 9.92 RPA1 RAD50 NBN MRE11
7 DNA duplex unwinding GO:0032508 9.91 XRCC6 XRCC5 RAD50 NBN MRE11 ATRX
8 double-strand break repair via homologous recombination GO:0000724 9.88 RPA1 RAD50 NBN MRE11
9 double-strand break repair GO:0006302 9.88 XRCC5 TP53 RAD50 PRKDC NBN MRE11
10 double-strand break repair via nonhomologous end joining GO:0006303 9.87 XRCC6 XRCC5 RAD50 PRKDC NBN MRE11
11 positive regulation of type I interferon production GO:0032481 9.86 XRCC6 XRCC5 PRKDC MRE11
12 positive regulation of kinase activity GO:0033674 9.85 RAD50 NBN MRE11
13 positive regulation of protein kinase activity GO:0045860 9.84 XRCC6 XRCC5 DAXX
14 telomere capping GO:0016233 9.84 RAD50 PRKDC NBN H4C11
15 cellular response to ionizing radiation GO:0071479 9.82 TP53 RAD9A RAD1
16 DNA damage checkpoint GO:0000077 9.81 RAD9A RAD1 NBN
17 regulation of signal transduction by p53 class mediator GO:1901796 9.81 TP53 SUPT16H SSRP1 RPA1 RAD9A RAD50
18 telomere maintenance GO:0000723 9.8 XRCC6 XRCC5 RPA1 RAD50 PRKDC NBN
19 cellular response to gamma radiation GO:0071480 9.79 XRCC6 XRCC5 TP53
20 activation of innate immune response GO:0002218 9.79 XRCC6 XRCC5 PRKDC
21 positive regulation of protein autophosphorylation GO:0031954 9.77 RAD50 NBN MRE11
22 telomere maintenance via telomerase GO:0007004 9.77 RPA1 RAD50 MRE11
23 positive regulation of telomere maintenance GO:0032206 9.76 RAD50 NBN MRE11 ATRX
24 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.75 TP53 NBN ATRX
25 DNA double-strand break processing GO:0000729 9.74 RAD50 NBN MRE11
26 DNA repair GO:0006281 9.73 XRCC6 XRCC5 SUPT16H SSRP1 RPA1 RAD9A
27 regulation of smooth muscle cell proliferation GO:0048660 9.72 XRCC6 XRCC5 PRKDC
28 telomeric 3' overhang formation GO:0031860 9.7 RAD50 NBN MRE11
29 mitotic G2 DNA damage checkpoint GO:0007095 9.69 NBN MRE11
30 intra-S DNA damage checkpoint GO:0031573 9.69 RAD9A MRE11
31 hematopoietic stem cell differentiation GO:0060218 9.68 XRCC5 TP53
32 protein localization to chromosome, telomeric region GO:0070198 9.68 XRCC5 ATRX
33 cellular response to X-ray GO:0071481 9.68 XRCC6 XRCC5
34 establishment of integrated proviral latency GO:0075713 9.67 XRCC6 XRCC5
35 chromosome organization involved in meiotic cell cycle GO:0070192 9.67 RAD50 ATRX
36 T cell lineage commitment GO:0002360 9.66 TP53 PRKDC
37 negative regulation of telomere capping GO:1904354 9.66 RAD50 NBN
38 positive regulation of lymphocyte differentiation GO:0045621 9.65 XRCC6 PRKDC
39 B cell lineage commitment GO:0002326 9.65 TP53 PRKDC
40 cellular hyperosmotic salinity response GO:0071475 9.63 XRCC6 XRCC5
41 small-subunit processome assembly GO:0034462 9.63 XRCC5 PRKDC
42 regulation of mitotic recombination GO:0000019 9.61 RAD50 MRE11
43 cellular response to DNA damage stimulus GO:0006974 9.44 XRCC6 XRCC5 TP53 SUPT16H SSRP1 RPA1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.4 XRCC6 XRCC5 TP53 SUPT16H SSRP1 RPA1
2 hydrolase activity GO:0016787 10.15 XRCC6 XRCC5 RAD9A RAD50 RAD1 MRE11
3 RNA binding GO:0003723 10.14 XRCC6 XRCC5 SUPT16H SSRP1 PRKDC H4C11
4 ATP binding GO:0005524 10.13 XRCC6 XRCC5 TP53 RAD50 PRKDC HELLS
5 transcription factor binding GO:0008134 9.9 TP53 PRKDC NBN DAXX
6 protein heterodimerization activity GO:0046982 9.89 TP53 H4C11 H2BC21 H2BC13 H2AC4
7 double-stranded DNA binding GO:0003690 9.77 XRCC6 XRCC5 PRKDC MRE11 H1-2
8 helicase activity GO:0004386 9.76 XRCC6 XRCC5 HELLS ATRX
9 protein N-terminus binding GO:0047485 9.75 TP53 NBN DAXX
10 exonuclease activity GO:0004527 9.7 RAD9A RAD1 MRE11
11 U3 snoRNA binding GO:0034511 9.57 XRCC5 PRKDC
12 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.56 RAD50 MRE11
13 3'-5' exonuclease activity GO:0008408 9.56 RAD9A RAD50 RAD1 MRE11
14 DNA helicase activity GO:0003678 9.55 XRCC6 XRCC5 RAD50 MRE11 ATRX
15 5'-deoxyribose-5-phosphate lyase activity GO:0051575 9.54 XRCC6 XRCC5
16 single-stranded telomeric DNA binding GO:0043047 9.51 RPA1 RAD50
17 double-stranded telomeric DNA binding GO:0003691 9.5 XRCC6 XRCC5 RAD50
18 exodeoxyribonuclease III activity GO:0008853 9.48 RAD9A RAD1
19 DNA binding GO:0003677 9.47 XRCC6 XRCC5 TP53 SSRP1 RPA1 RAD50
20 DNA end binding GO:0045027 9.43 XRCC6 XRCC5
21 damaged DNA binding GO:0003684 9.35 XRCC6 XRCC5 RPA1 RAD1 NBN

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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