HBHR
MCID: ALP093
MIFTS: 50

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
Alpha Thalassemia-Mental Retardation Syndrome 59 29 73
Atr-16 Syndrome 57 76 59
Alpha-Thalassemia/mental Retardation Syndrome, Type 1 57 13
Alpha-Thalassemia-Intellectual Disability Syndrome Linked to Chromosome 16 59
Chromosome 16-Related Alpha-Thalassemia/mental Retardation Syndrome 29
Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type 59
Alpha-Thalassemia/mental Retardation Syndrome, Deletion-Type 57
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type 73
Thalassemia, Alpha/mental Retardation Syndrome 40
Hemoglobin H-Related Mental Retardation; Hbhr 57
Hemoglobin H-Related Mental Retardation 57
Mental Retardation with Hemoglobin H 57
Atr Syndrome Linked to Chromosome 16 59
Chromosome 16p Deletion Syndrome 57
Atr Syndrome, Deletion Type 59
Chromosome 16p Deletion 53
Atr, Deletion-Type 57
16p Deletion 53
16p Monosomy 53
Deletion 16p 53
Monosomy 16p 53
Hbhr 57

Characteristics:

Orphanet epidemiological data:

59
alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 53 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 alpha thalassemia-mental retardation syndrome, is related to alpha thalassemia-intellectual disability syndrome type 1 and alpha-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 testes and tongue, and related phenotypes are malar flattening and hypertelorism

Wikipedia : 76 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
4 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
5 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
8 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
9 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
10 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
11 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
12 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
13 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
14 flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001371
15 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
16 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
17 retrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000278
18 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
19 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
20 short toe 59 32 frequent (33%) Frequent (79-30%) HP:0001831
21 microcytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001935
22 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
23 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
24 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
25 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
26 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
27 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
28 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
29 aplasia/hypoplasia of the eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0100840
30 underdeveloped supraorbital ridges 59 32 occasional (7.5%) Occasional (29-5%) HP:0009891
31 aplasia/hypoplasia of the earlobes 59 32 frequent (33%) Frequent (79-30%) HP:0009906
32 hemoglobin h 59 32 hallmark (90%) Very frequent (99-80%) HP:0011903
33 obesity 32 HP:0001513
34 ptosis 32 HP:0000508
35 seizures 32 occasional (7.5%) HP:0001250
36 macroglossia 32 HP:0000158
37 depressed nasal bridge 32 HP:0005280
38 microtia 32 HP:0008551
39 anteverted nares 32 HP:0000463
40 long philtrum 32 HP:0000343
41 patent ductus arteriosus 32 HP:0001643
42 webbed neck 32 HP:0000465
43 dental crowding 32 HP:0000678
44 protruding tongue 32 HP:0010808
45 micropenis 32 HP:0000054
46 supernumerary nipple 32 HP:0002558
47 asymmetry of the thorax 32 HP:0001555
48 radial deviation of finger 32 HP:0009466
49 flat forehead 32 HP:0004425
50 triangular nasal tip 32 HP:0000451

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 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 29
2 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:

41
Testes, Tongue

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

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

(show all 19)
# Title Authors Year
1
Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6. ( 30073207 )
2018
2
Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential. ( 29359122 )
2017
3
A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia. ( 26860117 )
2016
4
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome. ( 20602808 )
2010
5
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability. ( 20500465 )
2010
6
[X-linked alpha-thalassemia/mental retardation syndrome]. ( 19489441 )
2009
7
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. ( 18076105 )
2008
8
Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X. ( 16100724 )
2005
9
Alpha-thalassemia/mental retardation syndrome in a 45,X male. ( 15633163 )
2005
10
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). ( 12032728 )
2002
11
Molecular genetic study of Japanese patients with X-linked alpha- thalassemia/mental retardation syndrome (ATR-X). ( 10995512 )
2000
12
A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer. ( 9363663 )
1997
13
A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report. ( 8996969 )
1996
14
Self-induced vomiting in X-linked alpha-thalassemia/mental retardation syndrome. ( 8967323 )
1996
15
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). ( 7726225 )
1995
16
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? ( 7726226 )
1995
17
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq. ( 8166423 )
1993
18
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). ( 8460633 )
1993
19
Alpha-thalassemia/mental retardation syndrome often confused with other disorders. ( 1456302 )
1992

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
11.27 HBA1 HBA2
2 10.85 HBA1 HBA2
3 10.5 HBA1 HBA2
4
Show member pathways
10.17 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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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73 UMLS
74 UMLS via Orphanet
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