HBHR
MCID: ALP093
MIFTS: 38

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 57
Atr-16 Syndrome 57 73 58
Alpha-Thalassemia/mental Retardation Syndrome, Type 1 57 13
Alpha-Thalassemia-Intellectual Disability Syndrome Linked to Chromosome 16 58
Chromosome 16-Related Alpha-Thalassemia/mental Retardation Syndrome 29
Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type 58
Alpha-Thalassemia/mental Retardation Syndrome, Deletion-Type 57
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type 70
Hemoglobin H-Related Mental Retardation; Hbhr 57
Alpha Thalassemia-Mental Retardation Syndrome 70
Hemoglobin H-Related Mental Retardation 57
Mental Retardation with Hemoglobin H 57
Atr Syndrome Linked to Chromosome 16 58
Chromosome 16p Deletion Syndrome 57
Atr Syndrome, Deletion Type 58
Chromosome 16p Deletion 20
Atr, Deletion-Type 57
16p Deletion 20
16p Monosomy 20
Deletion 16p 20
Monosomy 16p 20
Hbhr 57

Characteristics:

Orphanet epidemiological data:

58
alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
contiguous gene syndrome
highly variable phenotype
see also x-linked alpha-thalassemia/mental retardation syndrome

Inheritance:
autosomal dominant


HPO:

31
alpha-thalassemia/mental retardation syndrome, chromosome 16-related:
Inheritance autosomal dominant inheritance contiguous gene syndrome


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


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

GARD : 20 Chromosome 16p deletion is 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 thalassemia. 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 tongue, and related phenotypes are seizure and intellectual disability

Wikipedia : 73 ATR-16 syndrome, also called Alpha-Thalassemia-Intellectual disability syndrome is a rare disease... more...

More information 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:

31 58 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
3 high palate 58 31 Frequent (79-30%) HP:0000218
4 short neck 58 31 Frequent (79-30%) HP:0000470
5 hypertelorism 58 31 Frequent (79-30%) HP:0000316
6 wide nasal bridge 58 31 Frequent (79-30%) HP:0000431
7 microcephaly 58 31 Frequent (79-30%) HP:0000252
8 short stature 58 31 Frequent (79-30%) HP:0004322
9 cryptorchidism 58 31 Frequent (79-30%) HP:0000028
10 retrognathia 58 31 Frequent (79-30%) HP:0000278
11 epicanthus 58 31 Frequent (79-30%) HP:0000286
12 talipes equinovarus 58 31 Frequent (79-30%) HP:0001762
13 downslanted palpebral fissures 58 31 Frequent (79-30%) HP:0000494
14 hypospadias 58 31 Occasional (29-5%) HP:0000047
15 broad forehead 58 31 Frequent (79-30%) HP:0000337
16 hbh hemoglobin 58 31 Very frequent (99-80%) HP:0011903
17 failure to thrive 58 Frequent (79-30%)
18 frontal bossing 58 Occasional (29-5%)
19 neurological speech impairment 58 Very frequent (99-80%)
20 ptosis 31 HP:0000508
21 muscular hypotonia 58 Frequent (79-30%)
22 macroglossia 31 HP:0000158
23 depressed nasal bridge 31 HP:0005280
24 pectus carinatum 58 Frequent (79-30%)
25 microtia 31 HP:0008551
26 anteverted nares 31 HP:0000463
27 flexion contracture 58 Occasional (29-5%)
28 fatigue 58 Very frequent (99-80%)
29 micrognathia 58 Frequent (79-30%)
30 webbed neck 31 HP:0000465
31 obesity 31 HP:0001513
32 short toe 58 Frequent (79-30%)
33 microcytic anemia 58 Very frequent (99-80%)
34 dental crowding 31 HP:0000678
35 protruding tongue 31 HP:0010808
36 micropenis 31 HP:0000054
37 aplasia/hypoplasia of the earlobes 58 Frequent (79-30%)
38 low-set, posteriorly rotated ears 58 Frequent (79-30%)
39 patent ductus arteriosus 31 HP:0001643
40 long philtrum 31 HP:0000343
41 malar flattening 58 Frequent (79-30%)
42 high forehead 58 Frequent (79-30%)
43 bruising susceptibility 58 Frequent (79-30%)
44 aplasia/hypoplasia of the eyebrow 58 Occasional (29-5%)
45 underdeveloped supraorbital ridges 58 Occasional (29-5%)
46 supernumerary nipple 31 HP:0002558
47 asymmetry of the thorax 31 HP:0001555
48 radial deviation of finger 31 HP:0009466
49 abnormal erythrocyte morphology 31 HP:0001877
50 clinodactyly 31 HP:0030084

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
hypertelorism
downslanting palpebral fissures
epicanthal folds

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Mouth:
protruding tongue
high-arched palate

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

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

Skeletal Feet:
talipes equinovarus

Genitourinary External Genitalia Male:
micropenis
hypospadias

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 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.83 HBA1 HBA2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.83 HBA1 HBA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.83 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.83 HBA1 HBA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.73 HBA1 HBA2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-205 9.73 HBA1 HBA2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.73 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 29

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

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

40
Tongue

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

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

(show all 26)
# Title Authors PMID Year
1
Refinement of the genetic cause of ATR-16. 61 57
17598130 2007
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. 61 57
10662550 2000
3
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3). 61 57
10631133 2000
4
De novo 16p deletion: ATR-16 syndrome. 57 61
9375730 1997
5
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. 57
18076105 2008
6
ATR-16 due to a de novo complex rearrangement of chromosome 16. 57
15921166 2005
7
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. 57
10353788 1999
8
Molecular-cytogenetic detection of a deletion of 1p36.3. 57
9138156 1997
9
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. 57
7719339 1995
10
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). 57
8460633 1993
11
A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. 57
1975428 1990
12
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. 57
2339704 1990
13
A review of the molecular genetics of the human alpha-globin gene cluster. 57
2649166 1989
14
Localisation of human alpha globin to 16p13.3----pter. 57
3236367 1988
15
The haemoglobin H disease mental retardation syndrome: molecular studies on the South African case. 57
6704328 1984
16
Hemoglobin H disease and multiple congenital anomalies in a child of northern European origin. 57
7158627 1982
17
Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? 57
6267462 1981
18
Hemoglobin-H disease in association with multiple congenital abnormalities. 57
5433640 1970
19
ATR-16 syndrome: mechanisms linking monosomy to phenotype. 61
32005695 2020
20
Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family. 61
31223040 2019
21
Hemoglobins emerging roles in mental disorders. Metabolical, genetical and immunological aspects. 61
28694195 2017
22
A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome. 61
27235459 2016
23
[Application of chromosome microarray analysis for fetuses with increased nuchal translucency and a normal karyotype]. 61
26037353 2015
24
[Osteosarcoma and ATR-16 syndrome: association or coincidence?]. 61
24631100 2015
25
[Alpha-thalassemias and bipolar disorders: a genetic link?]. 61
15971642 2005
26
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. 61
11157797 2001

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 Chromosome 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
11.27 HBA2 HBA1
2 10.85 HBA2 HBA1
3 10.52 HBA2 HBA1
4
Show member pathways
10.17 HBA2 HBA1

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 HBA2 HBA1
2 cytosolic small ribosomal subunit GO:0022627 9.26 HBA2 HBA1
3 endocytic vesicle lumen GO:0071682 9.16 HBA2 HBA1
4 hemoglobin complex GO:0005833 8.96 HBA2 HBA1
5 haptoglobin-hemoglobin complex GO:0031838 8.62 HBA2 HBA1

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 9.4 HBA2 HBA1
2 cellular oxidant detoxification GO:0098869 9.37 HBA2 HBA1
3 response to hydrogen peroxide GO:0042542 9.32 HBA2 HBA1
4 positive regulation of cell death GO:0010942 9.26 HBA2 HBA1
5 bicarbonate transport GO:0015701 9.16 HBA2 HBA1
6 hydrogen peroxide catabolic process GO:0042744 8.96 HBA2 HBA1
7 oxygen transport GO:0015671 8.62 HBA2 HBA1

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 HBA2 HBA1
2 iron ion binding GO:0005506 9.37 HBA2 HBA1
3 peroxidase activity GO:0004601 9.32 HBA2 HBA1
4 oxygen binding GO:0019825 9.26 HBA2 HBA1
5 oxygen carrier activity GO:0005344 9.16 HBA2 HBA1
6 organic acid binding GO:0043177 8.96 HBA2 HBA1
7 haptoglobin binding GO:0031720 8.62 HBA2 HBA1

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

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