MCID: ALP094
MIFTS: 35

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 74
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:



External Ids:

Disease Ontology 12 DOID:0110029
ICD10 34 D56.0
UMLS 74 C0795917

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 hemoglobin lepore-beta-thalassemia syndrome. An important gene associated with Alpha Thalassemia-Intellectual Disability Syndrome Type 1 is BAIAP3 (BAI1 Associated Protein 3), and among its related pathways/superpathways are cAMP signaling pathway and Amphetamine addiction. Affiliated tissues include brain, heart and breast, and related phenotypes are no effect and behavior/neurological

Related Diseases for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Diseases related to Alpha Thalassemia-Intellectual Disability Syndrome Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 32.9 HBA2 HBA1
2 hemoglobin lepore-beta-thalassemia syndrome 10.4 HBD HBB
3 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.4 HBB BCL11A
4 hemoglobin d disease 10.4 HBD HBB
5 malignant secondary hypertension 10.3 HBD HBB
6 hemoglobin e disease 10.3 HBD HBB
7 osgood-schlatter's disease 10.3 HBB HBD
8 fetal hemoglobin quantitative trait locus 1 10.2 HBB HBD
9 campomelic dysplasia 10.2 SOX9 SOX8 SOX10
10 hemoglobin zurich 10.2 HBB HBA2
11 heart cancer 10.1 TSC2 HBA1
12 diabetes mellitus, insulin-dependent, 24 10.1 HBA2 HBA1
13 hydrops fetalis, nonimmune 10.1 HBA2 HBA1
14 breast angiosarcoma 10.1 HBA1 SOX10
15 hypoglycemic coma 10.1 HBA2 HBA1
16 central neurocytoma 10.0
17 erythrocytosis, familial, 7 10.0 HBA2 HBA1
18 congenital hemolytic anemia 10.0 HBD HBB HBA2
19 type 1 diabetes mellitus 7 10.0 HBA1 HBA2
20 autosomal genetic disease 10.0 TSC2 HBD HBB ATRX
21 type 1 diabetes mellitus 11 10.0 HBA1 HBA2
22 neonatal hypoxic and ischemic brain injury 10.0 TH BDNF
23 delusional disorder 10.0 DRD4 TH
24 specific developmental disorder 10.0 DRD4 BDNF ATRX
25 kluver-bucy syndrome 10.0 HBB HBD
26 disease of mental health 10.0 GRIN2A DRD4 BDNF
27 nodular ganglioneuroblastoma 10.0 ATRX BDNF
28 immature cataract 10.0 HBA1 HBA2
29 methemoglobinemia, beta-globin type 9.9 HBB HBA2 HBA1
30 sickle cell disease 9.9 HBD HBB HBA2 BCL11A
31 glutathione peroxidase deficiency 9.9 HBB HBA2 HBA1
32 heinz body anemias 9.9 HBB HBA2 HBA1
33 hemoglobin c disease 9.9 MTHFR HBD HBB
34 toxic encephalopathy 9.9 TH GRIN2A BDNF
35 hemoglobinopathy 9.8 HBD HBB HBA2 HBA1
36 testicular infarct 9.8 HBB MTHFR
37 blood protein disease 9.8 MTHFR HBD HBB BCL11A
38 mood disorder 9.7 TH DRD4 BDNF
39 alpha-thalassemia 9.7 SOX8 HBB HBA2 HBA1 ATRX
40 beta-thalassemia 9.7 HBD HBB HBA2 HBA1 BCL11A
41 hemoglobin h disease 9.7 HBD HBB HBA2 HBA1 ATRX
42 retinal vascular disease 9.6 MTHFR HBA2 HBA1
43 attention deficit-hyperactivity disorder 9.6 TH GRIN2A DRD4 BDNF
44 thalassemia 9.6 HBD HBB HBA2 HBA1 BCL11A ATRX
45 psychotic disorder 9.6 BDNF DRD4 MTHFR
46 sickle cell anemia 9.3 MTHFR HBB HBA2 HBA1 BCL11A

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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ATRX BAIAP3 BCL11A BDNF CREBBP DRD4

MGI Mouse Phenotypes related to Alpha Thalassemia-Intellectual Disability Syndrome Type 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 ATRX BAIAP3 BDNF CREBBP DRD4 GRIN2A
2 endocrine/exocrine gland MP:0005379 9.81 BCL11A BDNF CREBBP SOX10 SOX8 SOX9
3 integument MP:0010771 9.56 BDNF CREBBP GRIN2A MTHFR SOX10 SOX9
4 nervous system MP:0003631 9.4 ATRX BAIAP3 BCL11A BDNF CREBBP DRD4

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

MalaCards organs/tissues related to Alpha Thalassemia-Intellectual Disability Syndrome Type 1:

42
Brain, Heart, Breast

Publications for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

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

# Title Authors Year
1
A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome. ( 27235459 )
2016
2
The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. ( 10662550 )
2000
3
De novo 16p deletion: ATR-16 syndrome. ( 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

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 blood microparticle GO:0072562 9.56 HBA1 HBA2 HBB HBD
2 endocytic vesicle lumen GO:0071682 9.33 HBA1 HBA2 HBB
3 hemoglobin complex GO:0005833 9.26 HBA1 HBA2 HBB HBD
4 haptoglobin-hemoglobin complex GO:0031838 8.92 HBA1 HBA2 HBB HBD

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 central nervous system development GO:0007417 9.82 SOX10 SOX8 SOX9
2 protein-containing complex assembly GO:0065003 9.81 CREBBP HMGA1 SOX9
3 memory GO:0007613 9.79 BDNF GRIN2A TH
4 response to hydrogen peroxide GO:0042542 9.77 HBA1 HBA2 HBB
5 positive regulation of cell death GO:0010942 9.76 HBA1 HBA2 HBB
6 bicarbonate transport GO:0015701 9.75 HBA1 HBA2 HBB
7 response to amphetamine GO:0001975 9.67 DRD4 GRIN2A TH
8 cellular oxidant detoxification GO:0098869 9.67 HBA1 HBA2 HBB HBD
9 oligodendrocyte differentiation GO:0048709 9.65 SOX10 SOX8 SOX9
10 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.63 SOX8 SOX9
11 peripheral nervous system development GO:0007422 9.63 BDNF SOX10 SOX8
12 dopamine metabolic process GO:0042417 9.62 DRD4 GRIN2A
13 enteric nervous system development GO:0048484 9.62 SOX10 SOX8
14 protein heterooligomerization GO:0051291 9.62 HBA1 HBA2 HBB HBD
15 lacrimal gland development GO:0032808 9.61 SOX10 SOX9
16 negative regulation of photoreceptor cell differentiation GO:0046533 9.59 SOX8 SOX9
17 morphogenesis of an epithelium GO:0002009 9.58 SOX10 SOX8 SOX9
18 astrocyte fate commitment GO:0060018 9.57 SOX8 SOX9
19 metanephric nephron tubule formation GO:0072289 9.56 SOX8 SOX9
20 positive regulation of kidney development GO:0090184 9.55 SOX8 SOX9
21 positive regulation of gliogenesis GO:0014015 9.54 SOX10 SOX8
22 renal vesicle induction GO:0072034 9.52 SOX8 SOX9
23 retinal rod cell differentiation GO:0060221 9.51 SOX8 SOX9
24 hydrogen peroxide catabolic process GO:0042744 9.46 HBA1 HBA2 HBB HBD
25 ureter morphogenesis GO:0072197 9.43 SOX8 SOX9
26 Sertoli cell development GO:0060009 9.43 ATRX SOX8 SOX9
27 morphogenesis of a branching epithelium GO:0061138 9.13 SOX10 SOX8 SOX9
28 oxygen transport GO:0015671 8.92 HBA1 HBA2 HBB HBD
29 regulation of transcription, DNA-templated GO:0006355 10.19 ATRX BCL11A CREBBP HMGA1 SOX10 SOX8
30 positive regulation of transcription, DNA-templated GO:0045893 10.03 CREBBP HMGA1 SOX10 SOX8 SOX9

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 chromatin binding GO:0003682 9.83 ATRX CREBBP HMGA1 SOX10 SOX9
2 heme binding GO:0020037 9.71 HBA1 HBA2 HBB HBD
3 peroxidase activity GO:0004601 9.62 HBA1 HBA2 HBB HBD
4 oxygen carrier activity GO:0005344 9.56 HBA1 HBA2 HBB HBD
5 dopamine binding GO:0035240 9.46 DRD4 TH
6 organic acid binding GO:0043177 9.46 HBA1 HBA2 HBB HBD
7 hemoglobin alpha binding GO:0031721 9.37 HBB HBD
8 haptoglobin binding GO:0031720 9.26 HBA1 HBA2 HBB HBD
9 oxygen binding GO:0019825 9.02 HBA1 HBA2 HBB HBD TH

Sources for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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