MCID: ALP014
MIFTS: 53

Alpha-Thalassemia/mental Retardation Syndrome malady

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

Aliases & Classifications for Alpha-Thalassemia/mental Retardation Syndrome

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Aliases & Descriptions for Alpha-Thalassemia/mental Retardation Syndrome:

Name: Alpha-Thalassemia/mental Retardation Syndrome 51 12
Atr-X Syndrome 11 25 53 69 49
Atrx Syndrome 23 47 24 25
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 23 47 24
Alpha Thalassemia/mental Retardation, X-Linked 23 24 25
Alpha-Thalassemia X-Linked Mental Retardation Syndrome 24 25
Xlmr-Hypotonic Face Syndrome 24 25
Atr, Nondeletion Type 11 47
Atr-X 69 26
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 67
Alpha Thalassemia Mental Retardation Syndrome, Nondeletion Type, X-Linked 47
Alpha-Thalassemia/mental Retardation Syndrome Non-Deletion Type X-Linked 69
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type 25
 
Alpha-Thalassemia/mental Retardation Syndrome Nondeletion Type 11
Alpha Thalassemia X-Linked Intellectual Disability Syndrome 25
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 11
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome 53
Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 51
Alpha-Thalassemia Mental Retardation Syndrome, X-Linked 69
X-Linked Alpha-Thalassemia/mental Retardation Syndrome 25
Alpha Thalassemia X-Linked Mental Retardation Syndrome 25
Alpha Thalassemia-Mental Retardation Syndrome 67
Xlmr Hypotonic Face Syndrome 47
Mental Retardation, X-Linked 38
Atr Nondeletion Type 69
Atrx 69

Characteristics:

Orphanet epidemiological data:

53
atr-x syndrome:
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal

HPO:

63
alpha-thalassemia/mental retardation syndrome:
Inheritance: x-linked dominant inheritance
Onset and clinical course: phenotypic variability

GeneReviews:

23
Penetrance: penetrance is presumed to be 100% in males as atrx pathogenic variants have not been reported in normal males...


Classifications:



External Ids:

OMIM51 301040
Disease Ontology11 DOID:0110030
ICD1029 D56.0
Orphanet53 ORPHA847
UMLS via Orphanet68 C1845055
ICD10 via Orphanet30 D56.0
MedGen36 C1845055
MeSH38 D038901

Summaries for Alpha-Thalassemia/mental Retardation Syndrome

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UniProtKB/Swiss-Prot:69 Alpha-thalassemia mental retardation syndrome, X-linked: A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions.

MalaCards based summary: Alpha-Thalassemia/mental Retardation Syndrome, also known as atr-x syndrome, is related to mental retardation-hypotonic facies syndrome, x-linked and mental retardation, x-linked, syndromic 15, and has symptoms including cryptorchidism, male pseudohermaphroditism and ambiguous genitalia. An important gene associated with Alpha-Thalassemia/mental Retardation Syndrome is ATRX (ATRX, Chromatin Remodeler), and among its related pathways are BRCA1 Pathway and ATM Pathway. Affiliated tissues include tongue and kidney, and related mouse phenotypes are embryo and pigmentation.

Disease Ontology:11 An alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21.

Genetics Home Reference:25 Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males.

Description from OMIM:51 301040

GeneReviews for NBK1449

Related Diseases for Alpha-Thalassemia/mental Retardation Syndrome

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation-hypotonic facies syndrome, x-linked29.8ATRX, HELLS, NBN, PRKDC
2mental retardation, x-linked, syndromic 1512.5
3mental retardation, x-linked 29 and others12.5
4mental retardation, x-linked, syndromic 1312.5
5alpha-thalassemia/mental retardation syndrome, chromosome 16-related12.4
6mental retardation, x-linked syndromic, nascimento-type12.4
7mental retardation, x-linked, with isolated growth hormone deficiency12.4
8mental retardation, x-linked syndromic, turner type12.4
9mental retardation, x-linked syndromic, raymond type12.4
10mental retardation, x-linked syndromic, christianson type12.4
11mental retardation, x-linked, syndromic 3212.4
12mental retardation, x-linked syndromic, lubs type12.4
13mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance12.4
14mental retardation, x-linked 30/4712.4
15mental retardation, x-linked 312.4
16mental retardation, x-linked, syndromic, martin-probst type12.4
17mental retardation, x-linked 4912.4
18mental retardation, x-linked, syndromic, hedera type12.4
19mental retardation, x-linked 9912.4
20mental retardation, x-linked 9212.4
21mental retardation, x-linked 9612.4
22mental retardation, x-linked, syndromic, claes-jensen type12.4
23mental retardation, x-linked 10112.4
24mental retardation, x-linked 12/3512.4
25mental retardation, x-linked, fraxe type12.4
26mental retardation, x-linked 9812.3
27mental retardation, x-linked 9712.3
28mental retardation, x-linked 10212.3
29mental retardation, x-linked 10012.3
30mental retardation, x-linked, syndromic, wu type12.3
31mental retardation, x-linked 10412.3
32mental retardation, x-linked, syndromic, borck type12.3
33mental retardation, x-linked, syndromic, bain type12.3
34mental retardation, x-linked, syndromic, 3312.3
35mental retardation, x-linked syndromic 512.2
36mental retardation, x-linked, snyder-robinson type12.2
37mental retardation, x-linked, syndromic 1712.1
38mental retardation, x-linked, syndromic 912.1
39mental retardation, x-linked, syndromic, chudley-schwartz type12.1
40mental retardation, x-linked, syndromic, wilson-turner type12.1
41mental retardation, x-linked, with craniofacial dysmorphism12.1
42mental retardation, x-linked, with growth hormone deficiency12.1
43mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor12.1
44mental retardation, x-linked 7312.0
45mental retardation, x-linked 5012.0
46mental retardation, x-linked 5312.0
47mental retardation, x-linked 2312.0
48mental retardation, x-linked 4212.0
49mental retardation x-linked dysmorphism12.0
50mental retardation x-linked, south african type12.0

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



Diseases related to alpha-thalassemia/mental retardation syndrome

Symptoms for Alpha-Thalassemia/mental Retardation Syndrome

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Symptoms by clinical synopsis from OMIM:

301040

Clinical features from OMIM:

301040

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

 63 53 (show all 96)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism63 53 hallmark (90%) Very frequent (99-80%) HP:0000028
2 male pseudohermaphroditism63 53 hallmark (90%) Very frequent (99-80%) HP:0000037
3 ambiguous genitalia63 53 hallmark (90%) Very frequent (99-80%) HP:0000062
4 abnormality of the fontanelles or cranial sutures63 hallmark (90%) HP:0000235
5 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
6 malar flattening63 hallmark (90%) HP:0000272
7 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
8 neurological speech impairment63 hallmark (90%) HP:0002167
9 cognitive impairment63 hallmark (90%) HP:0100543
10 abnormality of the tongue63 typical (50%) HP:0000157
11 thick lower lip vermilion63 53 typical (50%) Frequent (79-30%) HP:0000179
12 everted lower lip vermilion63 53 typical (50%) Frequent (79-30%) HP:0000232
13 epicanthus63 53 typical (50%) Frequent (79-30%) HP:0000286
14 depressed nasal ridge63 53 typical (50%) Frequent (79-30%) HP:0000457
15 anteverted nares63 53 typical (50%) Frequent (79-30%) HP:0000463
16 telecanthus63 53 typical (50%) Frequent (79-30%) HP:0000506
17 autism63 53 typical (50%) Frequent (79-30%) HP:0000717
18 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
19 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
20 talipes63 typical (50%) HP:0001883
21 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
22 hypoplasia of penis63 53 typical (50%) Frequent (79-30%) HP:0008736
23 abnormality of the heme biosynthetic pathway63 typical (50%) HP:0010472
24 recurrent urinary tract infections63 53 occasional (7.5%) Occasional (29-5%) HP:0000010
25 abnormality of the kidney63 53 occasional (7.5%) Occasional (29-5%) HP:0000077
26 abnormality of the teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0000164
27 sensorineural hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000407
28 visual impairment63 occasional (7.5%) HP:0000505
29 myopia63 53 occasional (7.5%) Occasional (29-5%) HP:0000545
30 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
31 brachydactyly syndrome63 53 occasional (7.5%) Occasional (29-5%) HP:0001156
32 flexion contracture63 53 occasional (7.5%) Occasional (29-5%) HP:0001371
33 limitation of joint mobility63 occasional (7.5%) HP:0001376
34 nausea and vomiting63 53 occasional (7.5%) Occasional (29-5%) HP:0002017
35 constipation63 53 occasional (7.5%) Occasional (29-5%) HP:0002019
36 cerebral cortical atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0002120
37 aganglionic megacolon63 53 occasional (7.5%) Occasional (29-5%) HP:0002251
38 encephalitis63 53 occasional (7.5%) Occasional (29-5%) HP:0002383
39 volvulus63 53 occasional (7.5%) Occasional (29-5%) HP:0002580
40 clinodactyly of the 5th finger63 53 occasional (7.5%) Occasional (29-5%) HP:0004209
41 hemiplegia/hemiparesis63 occasional (7.5%) HP:0004374
42 aplasia/hypoplasia of the corpus callosum63 occasional (7.5%) HP:0007370
43 feeding difficulties in infancy63 53 occasional (7.5%) Occasional (29-5%) HP:0008872
44 abnormality of movement63 53 occasional (7.5%) Occasional (29-5%) HP:0100022
45 self-injurious behavior63 53 occasional (7.5%) Occasional (29-5%) HP:0100716
46 hypospadias63 HP:0000047
47 shawl scrotum63 HP:0000049
48 micropenis63 HP:0000054
49 renal agenesis63 HP:0000104
50 hydronephrosis63 53 Occasional (29-5%) HP:0000126
51 macroglossia63 53 Frequent (79-30%) HP:0000158
52 posteriorly rotated ears63 HP:0000358
53 low-set ears63 HP:0000369
54 tapered finger63 HP:0001182
55 intellectual disability63 53 Very frequent (99-80%) HP:0001249
56 spasticity63 HP:0001257
57 global developmental delay63 HP:0001263
58 umbilical hernia63 HP:0001537
59 widely-spaced maxillary central incisors63 HP:0001566
60 talipes equinovarus63 53 Frequent (79-30%) HP:0001762
61 abnormality of metabolism/homeostasis63 HP:0001939
62 gastroesophageal reflux63 53 Very frequent (99-80%) HP:0002020
63 cerebral atrophy63 HP:0002059
64 coxa valga63 HP:0002673
65 absent frontal sinuses63 HP:0002688
66 kyphoscoliosis63 HP:0002751
67 hemivertebrae63 HP:0002937
68 short nose63 HP:0003196
69 hypochromic microcytic anemia63 HP:0004840
70 depressed nasal bridge63 HP:0005280
71 microtia63 HP:0008551
72 postnatal growth retardation63 HP:0008897
73 infantile muscular hypotonia63 HP:0008947
74 radial deviation of finger63 HP:0009466
75 u-shaped upper lip vermilion63 53 Frequent (79-30%) HP:0010806
76 protruding tongue63 HP:0010808
77 perimembranous ventricular septal defect63 HP:0011682
78 reduced alpha/beta synthesis ratio63 HP:0011907
79 clinodactyly63 HP:0030084
80 abnormality of the face53 Very frequent (99-80%)
81 blindness53 Occasional (29-5%)
82 behavioral abnormality53 Very frequent (99-80%)
83 depression53 Occasional (29-5%)
84 spastic paraplegia53 Occasional (29-5%)
85 agenesis of corpus callosum53 Occasional (29-5%)
86 joint stiffness53 Occasional (29-5%)
87 death in infancy53 Occasional (29-5%)
88 anemia53 Occasional (29-5%)
89 dysphasia53 Very frequent (99-80%)
90 abnormality of the male genitalia53 Very frequent (99-80%)
91 tented upper lip vermilion53 Frequent (79-30%)
92 abnormality of fontanelles53 Very frequent (99-80%)
93 midface retrusion53 Frequent (79-30%)
94 abnormal hemoglobin53 Frequent (79-30%)
95 flat face53 Very frequent (99-80%)
96 profound global developmental delay53 Very frequent (99-80%)

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


constipation

Drugs & Therapeutics for Alpha-Thalassemia/mental Retardation Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Alpha-Thalassemia/mental Retardation Syndrome


Cochrane evidence based reviews: mental retardation, x-linked

Genetic Tests for Alpha-Thalassemia/mental Retardation Syndrome

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

id Genetic test Affiliating Genes
1 Atr-X Syndrome26
2 Alpha-Thalassemia X-Linked Intellectual Disability Syndrome24 ATRX

Anatomical Context for Alpha-Thalassemia/mental Retardation Syndrome

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

35
Tongue, Kidney

Animal Models for Alpha-Thalassemia/mental Retardation Syndrome or affiliated genes

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.0ATRX, HELLS, NBN, RAD9A
2MP:00011868.8HELLS, PRKDC, RAD9A
3MP:00053848.4ATRX, HELLS, NBN, PRKDC, RAD9A
4MP:00107688.2ATRX, HELLS, NBN, PRKDC, RAD9A

Publications for Alpha-Thalassemia/mental Retardation Syndrome

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Articles related to Alpha-Thalassemia/mental Retardation Syndrome:

(show all 21)
idTitleAuthorsYear
1
A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia. (26860117)
2016
2
Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress. (23329831)
2013
3
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability. (20500465)
2010
4
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome. (20602808)
2010
5
X-linked alpha-thalassemia/mental retardation syndrome]. (19489441)
2009
6
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. (18076105)
2008
7
Alpha-thalassemia/mental retardation syndrome in a 45,X male. (15633163)
2005
8
Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X. (16100724)
2005
9
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). (12032728)
2002
10
Molecular genetic study of Japanese patients with X-linked alpha- thalassemia/mental retardation syndrome (ATR-X). (10995512)
2000
11
A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer. (9363663)
1997
12
A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report. (8996969)
1996
13
The alpha-thalassemia/mental retardation syndromes. (8606626)
1996
14
Self-induced vomiting in X-linked alpha-thalassemia/mental retardation syndrome. (8967323)
1996
15
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? (7726226)
1995
16
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). (7726225)
1995
17
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). (8460633)
1993
18
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq. (8166423)
1993
19
Alpha-thalassemia/mental retardation syndrome often confused with other disorders. (1456302)
1992
20
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. (2339705)
1990
21
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. (2339704)
1990

Variations for Alpha-Thalassemia/mental Retardation Syndrome

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

69 (show all 28)
id Symbol AA change Variation ID SNP ID
1ATRXp.Pro190AlaVAR_001226
2ATRXp.Leu192PheVAR_001227
3ATRXp.Cys200SerVAR_001228
4ATRXp.Cys220ArgVAR_001229
5ATRXp.Trp222SerVAR_001230
6ATRXp.Cys243PheVAR_001231
7ATRXp.Arg246CysVAR_001232
8ATRXp.Gly249AspVAR_001233
9ATRXp.His1609ArgVAR_001234
10ATRXp.Cys1614ArgVAR_001235
11ATRXp.Lys1650AsnVAR_001236
12ATRXp.Asp2035ValVAR_001238
13ATRXp.Tyr2084HisVAR_001239
14ATRXp.Tyr2163CysVAR_001241
15ATRXp.Arg246LeuVAR_010914
16ATRXp.Gly175GluVAR_012113
17ATRXp.Asn179SerVAR_012115
18ATRXp.Pro190LeuVAR_012116
19ATRXp.Pro190SerVAR_012117
20ATRXp.Val194IleVAR_012118
21ATRXp.Gln219ProVAR_012119
22ATRXp.Gly249CysVAR_012120
23ATRXp.Val1552PheVAR_012122
24ATRXp.Leu1645SerVAR_012123
25ATRXp.Pro1713SerVAR_012124
26ATRXp.Arg1742LysVAR_012125
27ATRXp.Tyr1847CysVAR_012126
28ATRXp.Thr1621MetVAR_016916

Clinvar genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1ATRXNM_000489.4(ATRX): c.4826A> G (p.His1609Arg)SNVPathogenicrs122445093GRCh37Chr X, 76889184: 76889184
2ATRXNM_000489.4(ATRX): c.4840T> C (p.Cys1614Arg)SNVPathogenicrs122445094GRCh37Chr X, 76889170: 76889170
3ATRXNM_000489.4(ATRX): c.4950G> T (p.Lys1650Asn)SNVPathogenicrs122445095GRCh37Chr X, 76889060: 76889060
4ATRXNM_000489.4(ATRX): c.6104A> T (p.Asp2035Val)SNVPathogenicrs122445096GRCh37Chr X, 76849172: 76849172
5ATRXNM_000489.4(ATRX): c.6250T> C (p.Tyr2084His)SNVPathogenicrs122445097GRCh37Chr X, 76829791: 76829791
6ATRXNM_000489.4(ATRX): c.6488A> G (p.Tyr2163Cys)SNVPathogenicrs122445098GRCh37Chr X, 76814156: 76814156
7ATRXNM_000489.4(ATRX): c.7156C> T (p.Arg2386Ter)SNVPathogenicrs122445099GRCh37Chr X, 76776310: 76776310
8ATRXNM_000489.4(ATRX): c.7162G> T (p.Glu2388Ter)SNVPathogenicrs122445100GRCh37Chr X, 76776304: 76776304
9ATRXATRX, IVSAS, T-A, -10SNVPathogenicChr na, -1: -1
10ATRXNM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln)SNVPathogenicrs122445101GRCh37Chr X, 76814252: 76814252
11ATRXATRX, 751A-GSNVPathogenicChr na, -1: -1
12ATRXNM_000489.4(ATRX): c.568C> G (p.Pro190Ala)SNVLikely pathogenic, Pathogenicrs122445103GRCh37Chr X, 76944337: 76944337
13ATRXNM_000489.4(ATRX): c.5225G> A (p.Arg1742Lys)SNVPathogenicrs122445104GRCh37Chr X, 76875910: 76875910
14ATRXNM_000489.4(ATRX): c.4862C> T (p.Thr1621Met)SNVPathogenicrs122445106GRCh37Chr X, 76889148: 76889148
15ATRXNM_000489.4(ATRX): c.109C> T (p.Arg37Ter)SNVPathogenicrs122445108GRCh37Chr X, 76972632: 76972632
16ATRXNM_000489.4(ATRX): c.7366_7367delAT (p.Met2456Glufs)deletionLikely pathogenic, Pathogenicrs797044723GRCh37Chr X, 76763941: 76763942
17ATRXNM_000489.4(ATRX): c.4626_4631delTGAAGA (p.Asp1542_Glu1543del)deletionLikely pathogenicrs797045406GRCh38Chr X, 77635983: 77635988
18ATRXNM_000489.4(ATRX): c.1753G> T (p.Glu585Ter)SNVPathogenicrs886044898GRCh37Chr X, 76938995: 76938995

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1264553X6770000076000000MicrodeletionATR-X Syndrome

Expression for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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

Pathways for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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GO Terms for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1pericentric heterochromatinGO:00057219.5ATRX, HELLS
2PML bodyGO:00166059.2ATRX, NBN
3nuclear chromosome, telomeric regionGO:00007848.3ATRX, NBN, PRKDC

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediatorGO:00303309.7ATRX, NBN
2DNA methylationGO:00063069.5ATRX, HELLS
3positive regulation of telomere maintenanceGO:00322069.5ATRX, NBN
4double-strand break repair via nonhomologous end joiningGO:00063039.4NBN, PRKDC
5regulation of signal transduction by p53 class mediatorGO:19017969.4NBN, RAD9A
6double-strand break repairGO:00063029.3NBN, PRKDC
7DNA duplex unwindingGO:00325089.3ATRX, NBN
8DNA replicationGO:00062609.3NBN, RAD9A
9DNA damage checkpointGO:00000779.2NBN, RAD9A

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

idNameGO IDScoreTop Affiliating Genes
1helicase activityGO:00043869.5ATRX, HELLS

Sources for Alpha-Thalassemia/mental Retardation Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet