MCID: ALP094
MIFTS: 24

Alpha Thalassemia-Intellectual Disability Syndrome Type 1

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



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. An important gene associated with Alpha Thalassemia-Intellectual Disability Syndrome Type 1 is BAIAP3 (BAI1 Associated Protein 3), and among its related pathways/superpathways is Preimplantation Embryo. Related phenotypes are cryptorchidism and hypospadias

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:

# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 11.4

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

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

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

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:

# Title Authors Year
1
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

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

# Super pathways Score Top Affiliating Genes
1 10.4 HMGA1 SOX8

GO Terms for Alpha Thalassemia-Intellectual Disability Syndrome Type 1

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 DNA binding transcription factor activity GO:0003700 8.8 BCL11A HMGA1 SOX8

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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