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ATRX
MCID: ALP100
MIFTS: 49

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

Categories: Blood diseases, Genetic diseases, Mental diseases, Neuronal diseases
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Aliases & Classifications for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

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

Name: Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 57 5
Atr-X Syndrome 57 73 53 75
Alpha-Thalassemia/mental Retardation Syndrome 57 12
Atr-X 75 73
Atrx 57 73
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 71
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type 57
Alpha-Thalassemia/intellectual Disability Syndrome, X-Linked 73
X-Linked Alpha Thalassemia Mental Retardation Syndrome 75
Thalassemia, Alpha/mental Retardation Syndrome 38
Alpha-Thalassemia Mental Retardation Syndrome 75
Alpha Thalassemia-Mental Retardation Syndrome 71
Atr, Nondeletion Type 57
Atr Nondeletion Type 73

Characteristics:


Inheritance:

X-linked dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
x-linked mental retardation-hypotonic facies syndrome is an allelic disorder without alpha-thalassemia


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Blood diseases Mental diseases
See all MalaCards categories (disease lists)


Sources

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

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UniProtKB/Swiss-Prot: 73 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 immunodeficiency-centromeric instability-facial anomalies syndrome and fanconi anemia, complementation group a, 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 is Chromatin Regulation / Acetylation. Affiliated tissues include tongue, bone marrow and bone, and related phenotypes are intellectual disability and scoliosis

Wikipedia: 75 Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked... more...

More information from OMIM: 301040
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Related Diseases for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

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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 299)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency-centromeric instability-facial anomalies syndrome 30.5 HELLS ATRX
2 fanconi anemia, complementation group a 30.5 HELLS ATRX
3 alpha-thalassemia 30.4 HELLS ATRX
4 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 11.8
5 intellectual disability-hypotonic facies syndrome, x-linked, 1 11.4
6 alpha-thalassemia myelodysplasia syndrome 11.3
7 syndrome with alpha-thalassemia as a major feature 11.2
8 microcephaly 11.1
9 myelodysplastic syndrome 11.1
10 leiomyosarcoma 11.0
11 neuroblastoma 11.0
12 pheochromocytoma 11.0
13 paraganglioma 11.0
14 rett syndrome 11.0
15 gonadal dysgenesis 11.0
16 congenital nervous system abnormality 10.9
17 choroid plexus cancer 10.9
18 nervous system disease 10.9
19 multiple endocrine neoplasia, type i 10.9
20 anaplastic astrocytoma 10.9
21 osteogenic sarcoma 10.9
22 islet cell tumor 10.9
23 malignant astrocytoma 10.8
24 cryptorchidism, unilateral or bilateral 10.8
25 pilocytic astrocytoma 10.8
26 meningioma, familial 10.8
27 hemoglobin h disease 10.8
28 brain glioma 10.8
29 dedifferentiated liposarcoma 10.8
30 syndromic intellectual disability 10.8
31 atypical teratoid rhabdoid tumor 10.8
32 pleomorphic xanthoastrocytoma 10.8
33 intellectual developmental disorder, x-linked, syndromic, turner type 10.8
34 deficiency anemia 10.8
35 adrenal cortical carcinoma 10.8
36 idh-wildtype glioblastoma 10.8
37 alpha thalassemia-intellectual disability syndrome type 1 10.8
38 cornelia de lange syndrome 10.8
39 giant cell glioblastoma 10.8
40 adult astrocytic tumor 10.8
41 diffuse astrocytoma 10.8
42 spinal cord astrocytoma 10.8
43 anaplastic oligodendroglioma 10.8
44 sotos syndrome 10.8
45 floating-harbor syndrome 10.8
46 li-fraumeni syndrome 10.8
47 enchondromatosis, multiple, ollier type 10.8
48 weaver syndrome 10.8
49 coffin-lowry syndrome 10.8
50 parkinson disease 2, autosomal recessive juvenile 10.8

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

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

30 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 scoliosis 30 Very rare (1%) HP:0002650
3 kyphosis 30 Very rare (1%) HP:0002808
4 hypotonia 30 Very rare (1%) HP:0001252
5 depressed nasal bridge 30 Very rare (1%) HP:0005280
6 hypertelorism 30 Very rare (1%) HP:0000316
7 mandibular prognathia 30 Very rare (1%) HP:0000303
8 thick vermilion border 30 Very rare (1%) HP:0012471
9 anteverted nares 30 Very rare (1%) HP:0000463
10 low-set ears 30 Very rare (1%) HP:0000369
11 epicanthus 30 Very rare (1%) HP:0000286
12 midface retrusion 30 Very rare (1%) HP:0011800
13 bilateral tonic-clonic seizure 30 Very rare (1%) HP:0002069
14 weak cry 30 Very rare (1%) HP:0001612
15 poor suck 30 Very rare (1%) HP:0002033
16 hbh hemoglobin 30 Very rare (1%) HP:0011903
17 diastema 30 Very rare (1%) HP:0000699
18 motor stereotypy 30 Very rare (1%) HP:0000733
19 spasticity 30 HP:0001257
20 constipation 30 HP:0002019
21 macroglossia 30 HP:0000158
22 global developmental delay 30 HP:0001263
23 umbilical hernia 30 HP:0001537
24 short nose 30 HP:0003196
25 microtia 30 HP:0008551
26 microcephaly 30 HP:0000252
27 sensorineural hearing impairment 30 HP:0000407
28 gastroesophageal reflux 30 HP:0002020
29 thick lower lip vermilion 30 HP:0000179
30 cryptorchidism 30 HP:0000028
31 growth delay 30 HP:0001510
32 postnatal growth retardation 30 HP:0008897
33 talipes equinovarus 30 HP:0001762
34 kyphoscoliosis 30 HP:0002751
35 protruding tongue 30 HP:0010808
36 micropenis 30 HP:0000054
37 hydronephrosis 30 HP:0000126
38 hemivertebrae 30 HP:0002937
39 malar flattening 30 HP:0000272
40 hypospadias 30 HP:0000047
41 ventricular septal defect 30 HP:0001629
42 coxa valga 30 HP:0002673
43 tapered finger 30 HP:0001182
44 shawl scrotum 30 HP:0000049
45 posteriorly rotated ears 30 HP:0000358
46 cerebral atrophy 30 HP:0002059
47 renal agenesis 30 HP:0000104
48 u-shaped upper lip vermilion 30 HP:0010806
49 radial deviation of finger 30 HP:0009466
50 absent frontal sinuses 30 HP:0002688

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.28 HELLS
2 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.28 HELLS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.28 ATRX
4 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.28 HELLS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.28 ATRX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-71 9.28 ATRX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.28 HELLS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.28 HELLS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.28 HELLS
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Drugs & Therapeutics for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

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

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

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

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

MalaCards : Tongue, Bone Marrow, Bone, Kidney, Brain, Pituitary, Pancreas
ODiseA: Blood And Bone Marrow, Kidney
Sources

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

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

(show top 50) (show all 1439)
# Title Authors PMID Year
1
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia. 53 62 57 5
8644709 1996
2
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. 62 57 5
16955409 2006
3
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. 62 57 5
16813605 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. 62 57 5
10417298 1999
5
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). 62 57 5
7697714 1995
6
Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers. 57 5
9598720 1998
7
Partial ATRX gene duplication causes ATR-X syndrome. 53 62 57
19764021 2009
8
Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome. 53 62 57
19088125 2009
9
Partial duplications of the ATRX gene cause the ATR-X syndrome. 53 62 57
17579672 2007
10
Molecular-clinical spectrum of the ATR-X syndrome. 53 62 57
11449489 2000
11
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. 53 62 5
8968741 1996
12
ATR-X syndrome: genetics, clinical spectrum, and management. 62 57
34524523 2021
13
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. 62 5
28027854 2017
14
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. 62 5
28371217 2017
15
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). 62 5
24805811 2015
16
Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome. 62 5
24289169 2014
17
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel. 62 5
24690944 2014
18
[Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome]. 62 5
24327140 2013
19
Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome. 62 5
23681356 2013
20
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation. 62 5
22129561 2012
21
Functional significance of mutations in the Snf2 domain of ATRX. 62 5
21505078 2011
22
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability. 62 5
20500465 2010
23
X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene. 62 57
19444090 2009
24
Mutations in the chromatin-associated protein ATRX. 62 5
18409179 2008
25
Gastrointestinal phenotype of ATR-X syndrome. 62 57
16688741 2006
26
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. 62 57
16100724 2005
27
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. 62 5
15508018 2005
28
Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation. 62 5
15591283 2004
29
Expanding phenotype of XNP mutations: mild to moderate mental retardation. 62 5
12116232 2002
30
Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). 62 5
10995512 2000
31
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. 62 5
10632111 2000
32
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. 62 5
9326931 1997
33
A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer. 62 57
9363663 1997
34
Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. 62 5
9244431 1997
35
Self-induced vomiting in X-linked alpha-thalassemia/mental retardation syndrome. 62 57
8967323 1996
36
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. 62 57
7726227 1995
37
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). 62 57
7726225 1995
38
Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome. 62 57
7726224 1995
39
Alpha thalassaemia mental retardation (ATR-X): an atypical family. 62 57
8017970 1994
40
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq. 62 57
8166423 1993
41
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. 62 57
1415255 1992
42
Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders. 5
32595695 2020
43
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. 5
31130284 2019
44
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 5
25590979 2015
45
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
46
Human diseases with underlying defects in chromatin structure and modification. 57
11673406 2001
47
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 5
11050622 2000
48
Integration of gene maps: chromosome X. 57
8001970 1994
49
A mutation in CFTR produces different phenotypes depending on chromosomal background. 5
7506096 1993
50
A newly defined X linked mental retardation syndrome associated with alpha thalassaemia. 57
1770527 1991
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Variations for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked

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

5 (show top 50) (show all 1140)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATRX NM_000489.6(ATRX):c.4840T>C (p.Cys1614Arg) SNV Pathogenic
 11722 rs122445094 GRCh37: X:76889170-76889170
GRCh38: X:77633682-77633682
2 ATRX NM_000489.6(ATRX):c.4950G>T (p.Lys1650Asn) SNV Pathogenic
 11723 rs122445095 GRCh37: X:76889060-76889060
GRCh38: X:77633572-77633572
3 ATRX NM_000489.6(ATRX):c.6104A>T (p.Asp2035Val) SNV Pathogenic
 11725 rs122445096 GRCh37: X:76849172-76849172
GRCh38: X:77593702-77593702
4 ATRX NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His) SNV Pathogenic
 11726 rs122445097 GRCh37: X:76829791-76829791
GRCh38: X:77574326-77574326
5 ATRX NM_000489.6(ATRX):c.6488A>G (p.Tyr2163Cys) SNV Pathogenic
 11727 rs122445098 GRCh37: X:76814156-76814156
GRCh38: X:77558685-77558685
6 ATRX NM_000489.6(ATRX):c.7162G>T (p.Glu2388Ter) SNV Pathogenic
 11729 rs122445100 GRCh37: X:76776304-76776304
GRCh38: X:77520826-77520826
7 ATRX NM_000489.6(ATRX):c.5273-10T>A SNV Pathogenic
 11730 GRCh37: X:76874459-76874459
GRCh38: X:77618991-77618991
8 ATRX NM_000489.6(ATRX):c.751A>G (p.Lys251Glu) SNV Pathogenic
 11733 rs1569539477 GRCh37: X:76939997-76939997
GRCh38: X:77684505-77684505
9 ATRX NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys) SNV Pathogenic
 11736 rs122445104 GRCh37: X:76875910-76875910
GRCh38: X:77620442-77620442
10 ATRX NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) SNV Pathogenic
 11739 rs122445106 GRCh37: X:76889148-76889148
GRCh38: X:77633660-77633660
11 ATRX NM_000489.6(ATRX):c.6122G>A (p.Ser2041Asn) SNV Pathogenic
 397524 rs1060499658 GRCh37: X:76845399-76845399
GRCh38: X:77589929-77589929
12 ATRX NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val) SNV Pathogenic
 431119 rs1135401793 GRCh37: X:76889145-76889145
GRCh38: X:77633657-77633657
13 ATRX NM_000489.6(ATRX):c.5039T>C (p.Ile1680Thr) SNV Pathogenic
 547182 rs1557106482 GRCh37: X:76888790-76888790
GRCh38: X:77633302-77633302
14 ATRX NM_000489.6(ATRX):c.4317G>A (p.Lys1439=) SNV Pathogenic
 560933 rs1569535642 GRCh37: X:76909588-76909588
GRCh38: X:77654098-77654098
15 ATRX NM_000489.6(ATRX):c.4558-3T>G SNV Pathogenic
 694709 rs1602996115 GRCh37: X:76891550-76891550
GRCh38: X:77636059-77636059
16 ATRX NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter) SNV Pathogenic
 954615 rs1557041077 GRCh37: X:76776325-76776325
GRCh38: X:77520847-77520847
17 ATRX NM_000489.6(ATRX):c.2678dup (p.Thr894fs) DUP Pathogenic
 1441584 GRCh37: X:76938069-76938070
GRCh38: X:77682577-77682578
18 ATRX NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter) SNV Pathogenic
 976030 rs2071372283 GRCh37: X:76939021-76939021
GRCh38: X:77683529-77683529
19 ATRX NM_000489.6(ATRX):c.7205del (p.Ile2402fs) DEL Pathogenic
 633696 rs1569513017 GRCh37: X:76764103-76764103
GRCh38: X:77508625-77508625
20 ATRX NC_000023.10:g.(?_76763809)_(77041507_?)del DEL Pathogenic
 1452479 GRCh37: X:76763809-77041507
GRCh38:
21 ATRX NC_000023.10:g.(?_76944291)_(76972740_?)del DEL Pathogenic
 640984 GRCh37: X:76944291-76972740
GRCh38:
22 ATRX NM_000489.6(ATRX):c.158del (p.Asn53fs) DEL Pathogenic
 1072204 GRCh37: X:76954093-76954093
GRCh38: X:77698605-77698605
23 ATRX NC_000023.10:g.(?_76759356)_(77042755_?)del DEL Pathogenic
 1072394 GRCh37: X:76759356-77042755
GRCh38:
24 ATRX NC_000023.10:g.(?_76937002)_(76940508_?)del DEL Pathogenic
 1072395 GRCh37: X:76937002-76940508
GRCh38:
25 ATRX NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter) SNV Pathogenic
 1073930 GRCh37: X:76938788-76938788
GRCh38: X:77683296-77683296
26 ATRX NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer) DEL Pathogenic
 847375 rs2070034528 GRCh37: X:76918872-76918875
GRCh38: X:77663383-77663386
27 ATRX NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter) SNV Pathogenic
 961507 rs2070037318 GRCh37: X:76918922-76918922
GRCh38: X:77663433-77663433
28 ATRX NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter) SNV Pathogenic
 838105 rs2071372283 GRCh37: X:76939021-76939021
GRCh38: X:77683529-77683529
29 ATRX NM_000489.6(ATRX):c.4826A>G (p.His1609Arg) SNV Pathogenic
 11721 rs122445093 GRCh37: X:76889184-76889184
GRCh38: X:77633696-77633696
30 ATRX NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) SNV Pathogenic
 11728 rs122445099 GRCh37: X:76776310-76776310
GRCh38: X:77520832-77520832
31 ATRX NM_000489.6(ATRX):c.568C>G (p.Pro190Ala) SNV Pathogenic
Likely Pathogenic
 11734 rs122445103 GRCh37: X:76944337-76944337
GRCh38: X:77688844-77688844
32 ATRX NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln) SNV Pathogenic
 11731 rs122445101 GRCh37: X:76814252-76814252
GRCh38: X:77558781-77558781
33 ATRX NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) SNV Pathogenic
 93141 rs398123425 GRCh37: X:76944369-76944369
GRCh38: X:77688876-77688876
34 ATRX NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) SNV Pathogenic
 11742 rs122445108 GRCh37: X:76972632-76972632
GRCh38: X:77717155-77717155
35 ATRX NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) SNV Pathogenic
Pathogenic
 11735 rs122445105 GRCh37: X:76940012-76940012
GRCh38: X:77684520-77684520
36 ATRX NM_000489.6(ATRX):c.477del (p.Lys159fs) DEL Pathogenic
 689744 rs1603240572 GRCh37: X:76949320-76949320
GRCh38: X:77693831-77693831
37 ATRX NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) SNV Likely Pathogenic
 372728 rs1057517948 GRCh37: X:76829787-76829787
GRCh38: X:77574322-77574322
38 ATRX NM_000489.6(ATRX):c.4957-4A>G SNV Likely Pathogenic
 807773 rs1602979818 GRCh37: X:76888876-76888876
GRCh38: X:77633388-77633388
39 ATRX NM_000489.6(ATRX):c.5449-7A>G SNV Likely Pathogenic
 1028792 rs2067371776 GRCh37: X:76872205-76872205
GRCh38: X:77616737-77616737
40 ATRX NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter) SNV Likely Pathogenic
 1683252 GRCh37: X:76938326-76938326
GRCh38: X:77682834-77682834
41 ATRX NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr) SNV Likely Pathogenic
 11745 rs122445111 GRCh37: X:76940434-76940434
GRCh38: X:77684942-77684942
42 ATRX NC_000023.10:g.(?_76953051)_(76954137_?)dup DUP Likely Pathogenic
 1498207 GRCh37: X:76953051-76954137
GRCh38:
43 ATRX NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del DEL Likely Pathogenic
 1677144 GRCh37: X:76940499-76972607
GRCh38:
44 ATRX NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys) SNV Likely Pathogenic
 692089 rs1602979414 GRCh37: X:76888781-76888781
GRCh38: X:77633293-77633293
45 ATRX NM_000489.6(ATRX):c.565C>T (p.His189Tyr) SNV Likely Pathogenic
 1679127 GRCh37: X:76944340-76944340
GRCh38: X:77688847-77688847
46 ATRX NM_000489.6(ATRX):c.77C>A (p.Ser26Ter) SNV Likely Pathogenic
 977684 rs2073481839 GRCh37: X:76972664-76972664
GRCh38: X:77717187-77717187
47 ATRX NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly) SNV Likely Pathogenic
 804033 rs122445096 GRCh37: X:76849172-76849172
GRCh38: X:77593702-77593702
48 ATRX NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr) SNV Likely Pathogenic
 804034 rs1602876401 GRCh37: X:76874317-76874317
GRCh38: X:77618849-77618849
49 ATRX NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys) SNV Likely Pathogenic
 1172655 GRCh37: X:76872107-76872107
GRCh38: X:77616639-77616639
50 ATRX NM_000489.6(ATRX):c.729C>G (p.Cys243Trp) SNV Likely Pathogenic
 391590 rs1057524153 GRCh37: X:76940019-76940019
GRCh38: X:77684527-77684527

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

73 (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 rs1603226766
16 ATRX p.Gly175Glu VAR_012113
17 ATRX p.Asn179Ser VAR_012115 rs398123425
18 ATRX p.Pro190Leu VAR_012116 rs1057518708
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 rs1602995714
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:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 264553 X 67700000 76000000 Microdeletion ATR-X Syndrome
Sources

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

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

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

# Super pathways Score Top Affiliating Genes
1
Chromatin Regulation / Acetylation 3
11.03 HELLS ATRX
Sources

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

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

# Name GO ID Score Top Affiliating Genes
1 pericentric heterochromatin GO:0005721 8.92 HELLS ATRX

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

# Name GO ID Score Top Affiliating Genes
1 chromatin remodeling GO:0006338 9.13 HELLS ATRX
2 DNA methylation GO:0006306 8.92 HELLS ATRX

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.46 HELLS ATRX
2 helicase activity GO:0004386 9.26 HELLS ATRX
3 ATP-dependent chromatin remodeler activity GO:0140658 8.92 HELLS ATRX
Sources

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

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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