HBHR
MCID: ALP093
MIFTS: 43

Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related (HBHR)

Categories: Blood diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome...

MalaCards integrated aliases for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related:

Name: Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 58
Atr-16 Syndrome 58 77 60
Alpha-Thalassemia/mental Retardation Syndrome, Type 1 58 13
Alpha-Thalassemia-Intellectual Disability Syndrome Linked to Chromosome 16 60
Chromosome 16-Related Alpha-Thalassemia/mental Retardation Syndrome 30
Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type 60
Alpha-Thalassemia/mental Retardation Syndrome, Deletion-Type 58
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type 74
Hemoglobin H-Related Mental Retardation; Hbhr 58
Alpha Thalassemia-Mental Retardation Syndrome 74
Hemoglobin H-Related Mental Retardation 58
Mental Retardation with Hemoglobin H 58
Atr Syndrome Linked to Chromosome 16 60
Chromosome 16p Deletion Syndrome 58
Atr Syndrome, Deletion Type 60
Chromosome 16p Deletion 54
Atr, Deletion-Type 58
16p Deletion 54
16p Monosomy 54
Deletion 16p 54
Monosomy 16p 54
Hbhr 58

Characteristics:

Orphanet epidemiological data:

60
alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
see also x-linked alpha-thalassemia/mental retardation syndrome
contiguous gene syndrome


HPO:

33
alpha-thalassemia/mental retardation syndrome, chromosome 16-related:
Onset and clinical course phenotypic variability
Inheritance contiguous gene syndrome autosomal dominant inheritance


Classifications:



Summaries for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome...

NIH Rare Diseases : 54 Chromosome 16p deletionis a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 16p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 16p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 16. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.

MalaCards based summary : Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related, also known as atr-16 syndrome, is related to alpha thalassemia-intellectual disability syndrome type 1 and central neurocytoma. An important gene associated with Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related is HBHR (Alpha-Thalassemia/Mental Retardation Syndrome, Type 1), and among its related pathways/superpathways are Binding and Uptake of Ligands by Scavenger Receptors and Malaria. Affiliated tissues include testes and tongue, and related phenotypes are intellectual disability and neurological speech impairment

Wikipedia : 77 ATR-16 syndrome, also called Alpha-Thalassemia-Intellectual disability syndrome is a rare disease... more...

Description from OMIM: 141750

Related Diseases for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome...

Graphical network of the top 20 diseases related to Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related:



Diseases related to Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related

Symptoms & Phenotypes for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome...

Human phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related:

60 33 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
3 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
4 microcytic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001935
5 hbh hemoglobin 33 hallmark (90%) HP:0011903
6 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
7 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
8 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
9 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
10 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
11 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
12 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
13 pectus carinatum 60 33 frequent (33%) Frequent (79-30%) HP:0000768
14 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
15 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
16 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
17 retrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000278
18 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
19 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
20 short toe 60 33 frequent (33%) Frequent (79-30%) HP:0001831
21 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001762
22 broad forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000337
23 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
24 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
25 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%) HP:0000978
26 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348
27 aplasia/hypoplasia of the earlobes 60 33 frequent (33%) Frequent (79-30%) HP:0009906
28 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
29 flexion contracture 60 33 occasional (7.5%) Occasional (29-5%) HP:0001371
30 hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000047
31 aplasia/hypoplasia of the eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0100840
32 underdeveloped supraorbital ridges 60 33 occasional (7.5%) Occasional (29-5%) HP:0009891
33 seizures 33 occasional (7.5%) HP:0001250
34 obesity 33 HP:0001513
35 ptosis 33 HP:0000508
36 macroglossia 33 HP:0000158
37 depressed nasal bridge 33 HP:0005280
38 microtia 33 HP:0008551
39 anteverted nares 33 HP:0000463
40 long philtrum 33 HP:0000343
41 patent ductus arteriosus 33 HP:0001643
42 webbed neck 33 HP:0000465
43 dental crowding 33 HP:0000678
44 protruding tongue 33 HP:0010808
45 micropenis 33 HP:0000054
46 supernumerary nipple 33 HP:0002558
47 asymmetry of the thorax 33 HP:0001555
48 radial deviation of finger 33 HP:0009466
49 flat forehead 33 HP:0004425
50 triangular nasal tip 33 HP:0000451

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures
epicanthal folds

Head And Neck Head:
microcephaly

Head And Neck Face:
long philtrum
wide, flat, broad forehead
retrognathia, mild

Skeletal Feet:
talipes equinovarus

Head And Neck Mouth:
protruding tongue
high-arched palate

Head And Neck Ears:
small ears

Growth Weight:
obesity, mild (less common)

Cardiovascular Vascular:
patent ductus arteriosus (in 1 reported case)

Chest Breasts:
abnormally placed nipples
accessory nipple

Hematology:
alpha-thalassemia
microcytic, hypochromic anemia
hb h inclusions in red blood cells

Head And Neck Neck:
short neck
webbed neck

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
micropenis

Head And Neck Nose:
triangular nasal tip
anteverted nostrils
flat, broad nasal bridge

Neurologic Central Nervous System:
seizures (less common)
mental retardation, mild to moderate

Head And Neck Teeth:
crowded teeth

Chest External Features:
asymmetric chest

Skeletal Hands:
clinodactyly of isolated digits

Laboratory Abnormalities:
subtelomeric deletion of chromosome 16p
normal serum ferritin

Clinical features from OMIM:

141750

GenomeRNAi Phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.91 HBA1 HBA2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.91 HBA1 HBA2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 HBA1 HBA2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.7 HBA1 HBA2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.7 HBA1 HBA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.7 HBA1 HBA2

Drugs & Therapeutics for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome...

Search Clinical Trials , NIH Clinical Center for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related

Genetic Tests for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome...

Genetic tests related to Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related:

# Genetic test Affiliating Genes
1 Chromosome 16-Related Alpha-Thalassemia/mental Retardation Syndrome 30

Anatomical Context for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome...

MalaCards organs/tissues related to Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related:

42
Testes, Tongue

Publications for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome...

Articles related to Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related:

# 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/mental Retardation Syndrome, Chromosome...

Copy number variations for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 97366 16 1 6300000 Microdeletion ATR-16 Syndrome

Expression for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome...

Search GEO for disease gene expression data for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related.

Pathways for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome...

Pathways related to Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 HBA1 HBA2
2 10.65 HBA1 HBA2
3 10.19 HBA1 HBA2

GO Terms for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome...

Cellular components related to Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.32 HBA1 HBA2
2 cytosolic small ribosomal subunit GO:0022627 9.26 HBA1 HBA2
3 endocytic vesicle lumen GO:0071682 9.16 HBA1 HBA2
4 hemoglobin complex GO:0005833 8.96 HBA1 HBA2
5 haptoglobin-hemoglobin complex GO:0031838 8.62 HBA1 HBA2

Biological processes related to Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.43 HBA1 HBA2
2 cellular oxidant detoxification GO:0098869 9.4 HBA1 HBA2
3 protein heterooligomerization GO:0051291 9.37 HBA1 HBA2
4 response to hydrogen peroxide GO:0042542 9.32 HBA1 HBA2
5 positive regulation of cell death GO:0010942 9.26 HBA1 HBA2
6 bicarbonate transport GO:0015701 9.16 HBA1 HBA2
7 hydrogen peroxide catabolic process GO:0042744 8.96 HBA1 HBA2
8 oxygen transport GO:0015671 8.62 HBA1 HBA2

Molecular functions related to Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.4 HBA1 HBA2
2 iron ion binding GO:0005506 9.37 HBA1 HBA2
3 oxygen binding GO:0019825 9.32 HBA1 HBA2
4 peroxidase activity GO:0004601 9.26 HBA1 HBA2
5 oxygen carrier activity GO:0005344 9.16 HBA1 HBA2
6 organic acid binding GO:0043177 8.96 HBA1 HBA2
7 haptoglobin binding GO:0031720 8.62 HBA1 HBA2

Sources for Alpha-Thalassemia/mental Retardation Syndrome, Chromosome...

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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