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 73
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 33 D56.0
UMLS 73 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 hereditary persistence of fetal hemoglobin-sickle cell disease 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 Decreased viability and Decreased viability

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 49)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 32.6 HBA1 HBA2
2 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.2 BCL11A HBB
3 hemoglobin lepore-beta-thalassemia syndrome 10.2 HBB HBD
4 hemoglobin d disease 10.1 HBB HBD
5 campomelic dysplasia 10.1 SOX10 SOX8 SOX9
6 malignant secondary hypertension 10.1 HBB HBD
7 delusional disorder 10.1 DRD4 TH
8 hemoglobin e disease 10.1 HBB HBD
9 hemoglobin zurich 10.1 HBA2 HBB
10 osgood-schlatter's disease 10.1 HBB HBD
11 fetal hemoglobin quantitative trait locus 1 10.1 HBB HBD
12 neonatal hypoxic and ischemic brain injury 10.1 BDNF TH
13 specific developmental disorder 10.0 ATRX BDNF DRD4
14 central neurocytoma 10.0
15 disease of mental health 10.0 BDNF DRD4 GRIN2A
16 congenital hemolytic anemia 10.0 HBA2 HBB HBD
17 diabetes mellitus, insulin-dependent, 24 10.0 HBA1 HBA2
18 hydrops fetalis, nonimmune 10.0 HBA1 HBA2
19 immune hydrops fetalis 10.0 HBA1 HBA2
20 heart cancer 10.0 HBA1 TSC2
21 nodular ganglioneuroblastoma 10.0 ATRX BDNF
22 toxic encephalopathy 10.0 BDNF GRIN2A TH
23 hypoglycemic coma 9.9 HBA1 HBA2
24 erythrocytosis, familial, 7 9.9 HBA1 HBA2
25 mood disorder 9.9 BDNF DRD4 TH
26 sickle cell disease 9.9 BCL11A HBA2 HBB HBD
27 hemoglobin c disease 9.9 HBB HBD MTHFR
28 type 1 diabetes mellitus 7 9.9 HBA1 HBA2
29 autosomal genetic disease 9.9 ATRX HBB HBD TSC2
30 breast angiosarcoma 9.9 HBA1 SOX10
31 type 1 diabetes mellitus 11 9.9 HBA1 HBA2
32 kluver-bucy syndrome 9.9 HBB HBD
33 immature cataract 9.9 HBA1 HBA2
34 testicular infarct 9.9 HBB MTHFR
35 blood protein disease 9.9 BCL11A HBB HBD MTHFR
36 psychotic disorder 9.8 BDNF DRD4 MTHFR
37 attention deficit-hyperactivity disorder 9.8 BDNF DRD4 GRIN2A TH
38 methemoglobinemia, beta-globin type 9.8 HBA1 HBA2 HBB
39 glutathione peroxidase deficiency 9.8 HBA1 HBA2 HBB
40 heinz body anemias 9.8 HBA1 HBA2 HBB
41 retinal vascular disease 9.7 HBA1 HBA2 MTHFR
42 autism 9.7 BDNF DRD4 GRIN2A TH TSC2
43 hemoglobinopathy 9.7 HBA1 HBA2 HBB HBD
44 bipolar disorder 9.6 BDNF DRD4 GRIN2A MTHFR TH
45 alpha-thalassemia 9.6 ATRX HBA1 HBA2 HBB SOX8
46 beta-thalassemia 9.6 BCL11A HBA1 HBA2 HBB HBD
47 hemoglobin h disease 9.6 ATRX HBA1 HBA2 HBB HBD
48 thalassemia 9.5 ATRX BCL11A HBA1 HBA2 HBB HBD
49 sickle cell anemia 9.5 BCL11A HBA1 HBA2 HBB MTHFR

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10 SOX10
2 Decreased viability GR00381-A-1 10 SSTR5
3 Decreased viability GR00402-S-2 10 ATRX BAIAP3 BCL11A BDNF CREBBP DRD4
4 no effect GR00402-S-1 9.62 ATRX BAIAP3 BCL11A BDNF CREBBP DRD4

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

46
# 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:

41
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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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