MCID: CHR225
MIFTS: 34

Chromosome 1q21.1 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 1q21.1 Duplication Syndrome

MalaCards integrated aliases for Chromosome 1q21.1 Duplication Syndrome:

Name: Chromosome 1q21.1 Duplication Syndrome 57 12 20 29 13 6 15 71
1q21.1 Microduplication Syndrome 12 20 58
Trisomy 1q21.1 12 58
1q21.1 Duplication Syndrome 43
1q21.1 Microduplication 43
1q21.1 Duplication 43
Dup(1)(q21.1) 58

Characteristics:

Orphanet epidemiological data:

58
1q21.1 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance

Inheritance:
autosomal dominant
isolated cases


HPO:

31
chromosome 1q21.1 duplication syndrome:
Inheritance autosomal dominant inheritance sporadic
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 1q21.1 Duplication Syndrome

GARD : 20 1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1. Some people with a 1q21.1 microduplication have developmental delay and intellectual disability that is typically mild to moderate. Individuals with this condition can also have features of autism spectrum disorder. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. Expressive language skills (vocabulary and the production of speech) tend to be more impaired than receptive language skills (the ability to understand speech) in affected individuals. In childhood, 1q21.1 microduplications may also be associated with an increased risk of attention-deficit/hyperactivity disorder (ADHD) and other behavioral problems. Psychiatric disorders such as schizophrenia or mood disorders such as anxiety or depression occur in some affected individuals, usually during adulthood. Rarely, recurrent seizures (epilepsy) occur in people with a 1q21.1 microduplication. Some individuals with a 1q21.1 microduplication are born with malformations of the heart, including a particular combination of heart defects known as tetralogy of Fallot. Less commonly, other physical malformations such as the urethra opening on the underside of the penis (hypospadias) in males, inward- and upward-turning feet (clubfeet), or misalignment of the hip joint (hip dysplasia) are present at birth. Individuals with a 1q21.1 microduplication may also have a larger than average head size or taller than average adult stature. Some have slightly unusual facial features such as wide-set eyes or low-set ears. As adults, individuals with a 1q21.1 microduplication may be prone to develop cysts, swollen and knotted (varicose) veins, or carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. However, there is no particular pattern of physical abnormalities that characterizes 1q21.1 microduplications. Signs and symptoms related to the chromosomal change vary even among affected members of the same family. Some people with the duplication have no identified physical, intellectual, or behavioral abnormalities. This disease summary is from MedlinePlus Genetics, an online health information resource from the National Institutes of Health.

MalaCards based summary : Chromosome 1q21.1 Duplication Syndrome, also known as 1q21.1 microduplication syndrome, is related to alacrima, achalasia, and mental retardation syndrome and autism spectrum disorder. An important gene associated with Chromosome 1q21.1 Duplication Syndrome is DUP1Q21 (Chromosome 1q21.1 Duplication Syndrome), and among its related pathways/superpathways is Deactivation of the beta-catenin transactivating complex. Affiliated tissues include heart, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A chromosomal duplication syndrome that has material basis in duplication of the chromosome 1q21.1 region.

MedlinePlus Genetics : 43 1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.Some people with a 1q21.1 microduplication have developmental delay and intellectual disability that is typically mild to moderate. Individuals with this condition can also have features of autism spectrum disorder. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. Expressive language skills (vocabulary and the production of speech) tend to be more impaired than receptive language skills (the ability to understand speech) in affected individuals. In childhood, 1q21.1 microduplications may also be associated with an increased risk of attention-deficit/hyperactivity disorder (ADHD) and other behavioral problems. Psychiatric disorders such as schizophrenia or mood disorders such as anxiety or depression occur in some affected individuals, usually during adulthood. Rarely, recurrent seizures (epilepsy) occur in people with a 1q21.1 microduplication.Some individuals with a 1q21.1 microduplication are born with malformations of the heart, including a particular combination of heart defects known as tetralogy of Fallot. Less commonly, other physical malformations such as the urethra opening on the underside of the penis (hypospadias) in males, inward- and upward-turning feet (clubfeet), or misalignment of the hip joint (hip dysplasia) are present at birth. Individuals with a 1q21.1 microduplication may also have a larger than average head size or taller than average adult stature. Some have slightly unusual facial features such as wide-set eyes or low-set ears. As adults, individuals with a 1q21.1 microduplication may be prone to develop cysts, swollen and knotted (varicose) veins, or carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. However, there is no particular pattern of physical abnormalities that characterizes 1q21.1 microduplications. Signs and symptoms related to the chromosomal change vary even among affected members of the same family. Some people with the duplication have no identified physical, intellectual, or behavioral abnormalities.

Wikipedia : 74 1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome... more...

More information from OMIM: 612475

Related Diseases for Chromosome 1q21.1 Duplication Syndrome

Diseases related to Chromosome 1q21.1 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.2
2 autism spectrum disorder 10.2
3 dyslexia 10.1
4 learning disability 10.1
5 carpal tunnel syndrome 10.0
6 tetralogy of fallot 10.0
7 hemochromatosis, type 1 10.0
8 specific language disorder 10.0
9 schizophrenia 10.0
10 duodenal atresia 10.0
11 epilepsy 10.0
12 priapism 10.0

Graphical network of the top 20 diseases related to Chromosome 1q21.1 Duplication Syndrome:



Diseases related to Chromosome 1q21.1 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 1q21.1 Duplication Syndrome

Human phenotypes related to Chromosome 1q21.1 Duplication Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
4 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
5 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
6 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
7 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
8 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
9 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
10 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
11 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
12 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
13 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
14 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
15 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
16 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
17 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
18 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
19 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
20 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
21 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
22 schizophrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100753
23 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
24 intellectual disability, mild 31 occasional (7.5%) HP:0001256
25 seizure 31 occasional (7.5%) HP:0001250
26 hypotonia 31 occasional (7.5%) HP:0001252
27 seizures 58 Occasional (29-5%)
28 muscular hypotonia 58 Occasional (29-5%)
29 specific learning disability 31 HP:0001328
30 hypoplasia of the corpus callosum 31 HP:0002079

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Face:
frontal bossing
mild dysmorphism

Neurologic Behavioral Psychiatric Manifestations:
autism
schizophrenia

Neurologic Central Nervous System:
learning disabilities
seizures (rare)
hypoplasia of corpus callosum and cerebellar vermis
mental retardation, mild-moderate (some)

Head And Neck Eyes:
hypertelorism

Growth Height:
normal height

Head And Neck Head:
macrocephaly (half of cases)

Clinical features from OMIM®:

612475 (Updated 05-Mar-2021)

Drugs & Therapeutics for Chromosome 1q21.1 Duplication Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight Recruiting NCT01238250

Search NIH Clinical Center for Chromosome 1q21.1 Duplication Syndrome

Genetic Tests for Chromosome 1q21.1 Duplication Syndrome

Genetic tests related to Chromosome 1q21.1 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 1q21.1 Duplication Syndrome 29

Anatomical Context for Chromosome 1q21.1 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 1q21.1 Duplication Syndrome:

40
Heart

Publications for Chromosome 1q21.1 Duplication Syndrome

Articles related to Chromosome 1q21.1 Duplication Syndrome:

(show all 12)
# Title Authors PMID Year
1
Clinical phenotype of the recurrent 1q21.1 copy-number variant. 57
26066539 2016
2
1q21.1 Microduplication expression in adults. 57
23018752 2013
3
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 57
21792059 2011
4
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 57
21844811 2011
5
Penetrance for copy number variants associated with schizophrenia. 57
20587603 2010
6
Population analysis of large copy number variants and hotspots of human genetic disease. 57
19166990 2009
7
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. 57
19029900 2008
8
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. 57
18784092 2008
9
Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications. 61
32909813 2020
10
Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1. 61
32655619 2020
11
Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome. 61
29922639 2018
12
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. 61
28778789 2017

Variations for Chromosome 1q21.1 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 1q21.1 Duplication Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTSL4 GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Pathogenic 225520 1:144927578-153223600
2 BCL9 GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122) copy number gain Pathogenic 625536 1:145015937-147416122
3 BCL9 GRCh37/hg19 1q21.1-21.2(chr1:145103956-147220326) copy number gain Pathogenic 625537 1:145103956-147220326
4 BCL9 GRCh37/hg19 1q21.1-21.2(chr1:145765424-147142037) copy number gain Pathogenic 625538 1:145765424-147142037
5 BCL9 GRCh37/hg19 1q21.1-21.2(chr1:145740598-147825678) copy number gain Pathogenic 625818 1:145740598-147825678
6 BCL9 GRCh37/hg19 1q21.1-21.2(chr1:145804679-147735815)x3 copy number gain Pathogenic 666434 1:145804679-147735815

Expression for Chromosome 1q21.1 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 1q21.1 Duplication Syndrome.

Pathways for Chromosome 1q21.1 Duplication Syndrome

Pathways related to Chromosome 1q21.1 Duplication Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.26 TLE3 BCL9

GO Terms for Chromosome 1q21.1 Duplication Syndrome

Cellular components related to Chromosome 1q21.1 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 beta-catenin-TCF complex GO:1990907 8.62 TLE3 BCL9

Biological processes related to Chromosome 1q21.1 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 beta-catenin-TCF complex assembly GO:1904837 8.62 TLE3 BCL9

Sources for Chromosome 1q21.1 Duplication Syndrome

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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