MCID: ALP094
MIFTS: 32

Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Categories: Blood diseases, Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

MalaCards integrated aliases for Alpha Thalassemia-Intellectual Disability Syndrome Type 1:

Name: Alpha Thalassemia-Intellectual Disability Syndrome Type 1 12 15
Alpha-Thalassemia-Intellectual Disability Syndrome Linked to Chromosome 16 12
Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type 12
Alpha-Thalassemia/mental Retardation Syndrome, Deletion-Type 12
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type 70
Alpha-Thalassemia/mental Retardation Syndrome, Type 1 12
Alpha Thalassemia-Retardation Syndrome 12
Atr Syndrome Linked to Chromosome 16 12
Atr Syndrome, Deletion Type 12
Atr-16 Syndrome 12

Classifications:



Summaries for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Disease Ontology : 12 An alpha thalassemia that has material basis in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.

MalaCards based summary : Alpha Thalassemia-Intellectual Disability Syndrome Type 1, also known as alpha-thalassemia-intellectual disability syndrome linked to chromosome 16, is related to alpha-thalassemia/mental retardation syndrome, chromosome 16-related and thalassemia. An important gene associated with Alpha Thalassemia-Intellectual Disability Syndrome Type 1 is NUDT17 (Nudix Hydrolase 17), and among its related pathways/superpathways are Malaria and African trypanosomiasis. Related phenotypes are intellectual disability and neurological speech impairment

Related Diseases for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Graphical network of the top 20 diseases related to Alpha Thalassemia-Intellectual Disability Syndrome Type 1:



Diseases related to Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Symptoms & Phenotypes for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Human phenotypes related to Alpha Thalassemia-Intellectual Disability Syndrome Type 1:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 hallmark (90%) HP:0001249
2 neurological speech impairment 31 hallmark (90%) HP:0002167
3 fatigue 31 hallmark (90%) HP:0012378
4 microcytic anemia 31 hallmark (90%) HP:0001935
5 hbh hemoglobin 31 hallmark (90%) HP:0011903
6 failure to thrive 31 frequent (33%) HP:0001508
7 high palate 31 frequent (33%) HP:0000218
8 short neck 31 frequent (33%) HP:0000470
9 hypertelorism 31 frequent (33%) HP:0000316
10 wide nasal bridge 31 frequent (33%) HP:0000431
11 pectus carinatum 31 frequent (33%) HP:0000768
12 microcephaly 31 frequent (33%) HP:0000252
13 short stature 31 frequent (33%) HP:0004322
14 cryptorchidism 31 frequent (33%) HP:0000028
15 retrognathia 31 frequent (33%) HP:0000278
16 micrognathia 31 frequent (33%) HP:0000347
17 epicanthus 31 frequent (33%) HP:0000286
18 short toe 31 frequent (33%) HP:0001831
19 talipes equinovarus 31 frequent (33%) HP:0001762
20 downslanted palpebral fissures 31 frequent (33%) HP:0000494
21 aplasia/hypoplasia of the earlobes 31 frequent (33%) HP:0009906
22 low-set, posteriorly rotated ears 31 frequent (33%) HP:0000368
23 malar flattening 31 frequent (33%) HP:0000272
24 broad forehead 31 frequent (33%) HP:0000337
25 high forehead 31 frequent (33%) HP:0000348
26 bruising susceptibility 31 frequent (33%) HP:0000978
27 hypotonia 31 frequent (33%) HP:0001252
28 frontal bossing 31 occasional (7.5%) HP:0002007
29 flexion contracture 31 occasional (7.5%) HP:0001371
30 hypospadias 31 occasional (7.5%) HP:0000047
31 aplasia/hypoplasia of the eyebrow 31 occasional (7.5%) HP:0100840
32 underdeveloped supraorbital ridges 31 occasional (7.5%) HP:0009891

GenomeRNAi Phenotypes related to Alpha Thalassemia-Intellectual Disability Syndrome Type 1 according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.6 HBA1 HBA2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.6 CHAF1A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.6 CHAF1A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.6 CHAF1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.6 HBA1 HBA2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.6 HBA1 HBA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.6 CHAF1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.6 CHAF1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.6 CHAF1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.6 CHAF1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.6 HBA1 HBA2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.6 CHAF1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-84 9.6 CHAF1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.6 CHAF1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.6 CHAF1A

Drugs & Therapeutics for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Search Clinical Trials , NIH Clinical Center for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Genetic Tests for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Anatomical Context for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Publications for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Articles related to Alpha Thalassemia-Intellectual Disability Syndrome Type 1:

(show all 12)
# Title Authors PMID Year
1
ATR-16 syndrome: mechanisms linking monosomy to phenotype. 61
32005695 2020
2
Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family. 61
31223040 2019
3
Hemoglobins emerging roles in mental disorders. Metabolical, genetical and immunological aspects. 61
28694195 2017
4
A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome. 61
27235459 2016
5
[Application of chromosome microarray analysis for fetuses with increased nuchal translucency and a normal karyotype]. 61
26037353 2015
6
[Osteosarcoma and ATR-16 syndrome: association or coincidence?]. 61
24631100 2015
7
Refinement of the genetic cause of ATR-16. 61
17598130 2007
8
[Alpha-thalassemias and bipolar disorders: a genetic link?]. 61
15971642 2005
9
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. 61
11157797 2001
10
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3). 61
10631133 2000
11
The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. 61
10662550 2000
12
De novo 16p deletion: ATR-16 syndrome. 61
9375730 1997

Variations for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Expression for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Search GEO for disease gene expression data for Alpha Thalassemia-Intellectual Disability Syndrome Type 1.

Pathways for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Pathways related to Alpha Thalassemia-Intellectual Disability Syndrome Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.85 HBA2 HBA1
2 10.52 HBA2 HBA1
3
Show member pathways
10.17 HBA2 HBA1

GO Terms for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Cellular components related to Alpha Thalassemia-Intellectual Disability Syndrome Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosolic small ribosomal subunit GO:0022627 9.26 HBA2 HBA1
2 endocytic vesicle lumen GO:0071682 9.16 HBA2 HBA1
3 hemoglobin complex GO:0005833 9.13 HBQ1 HBA2 HBA1
4 haptoglobin-hemoglobin complex GO:0031838 8.8 HBQ1 HBA2 HBA1

Biological processes related to Alpha Thalassemia-Intellectual Disability Syndrome Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to hydrogen peroxide GO:0042542 9.4 HBA2 HBA1
2 positive regulation of cell death GO:0010942 9.37 HBA2 HBA1
3 cellular oxidant detoxification GO:0098869 9.33 HBQ1 HBA2 HBA1
4 bicarbonate transport GO:0015701 9.32 HBA2 HBA1
5 Sertoli cell development GO:0060009 9.26 SOX8 ATRX
6 hydrogen peroxide catabolic process GO:0042744 9.13 HBQ1 HBA2 HBA1
7 oxygen transport GO:0015671 8.8 HBQ1 HBA2 HBA1

Molecular functions related to Alpha Thalassemia-Intellectual Disability Syndrome Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10 POLR3K NUDT17 HBQ1 HBA2 HBA1 BAIAP3
2 heme binding GO:0020037 9.61 HBQ1 HBA2 HBA1
3 iron ion binding GO:0005506 9.58 HBQ1 HBA2 HBA1
4 peroxidase activity GO:0004601 9.5 HBQ1 HBA2 HBA1
5 oxygen binding GO:0019825 9.43 HBQ1 HBA2 HBA1
6 chromo shadow domain binding GO:0070087 9.37 CHAF1A ATRX
7 oxygen carrier activity GO:0005344 9.33 HBQ1 HBA2 HBA1
8 organic acid binding GO:0043177 9.13 HBQ1 HBA2 HBA1
9 haptoglobin binding GO:0031720 8.8 HBQ1 HBA2 HBA1

Sources for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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