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 53 29 13 6 15 72
1q21.1 Microduplication Syndrome 12 53 59
Trisomy 1q21.1 12 59
1q21.1 Duplication Syndrome 25
1q21.1 Microduplication 25
1q21.1 Duplication 25
Dup(1)(q21.1) 59


Orphanet epidemiological data:

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


incomplete penetrance

autosomal dominant
isolated cases


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


External Ids:

Disease Ontology 12 DOID:0060435
OMIM 57 612475
ICD10 33 Q92.3
ICD10 via Orphanet 34 Q92.3
UMLS via Orphanet 73 C2675891
Orphanet 59 ORPHA250994
MedGen 42 C2675891
UMLS 72 C2675891

Summaries for Chromosome 1q21.1 Duplication Syndrome

Genetics Home Reference : 25 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.

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 are Wnt / Hedgehog / Notch and Pathways Affected in Adenoid Cystic Carcinoma. Affiliated tissues include heart and eye, and related phenotypes are intellectual disability and global developmental delay

NIH Rare Diseases : 53 Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.

Wikipedia : 75 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 11)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.3
2 autism spectrum disorder 10.3
3 carpal tunnel syndrome 10.2
4 tetralogy of fallot 10.2
5 hemochromatosis, type 1 10.2
6 specific language disorder 10.2
7 dyslexia 10.2
8 learning disability 10.2
9 duodenal atresia 10.1
10 epilepsy 10.1
11 priapism 10.1

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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
4 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
5 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
6 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
9 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
10 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
11 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
12 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
13 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
14 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
15 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
16 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
17 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
18 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
19 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
20 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
21 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
22 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
23 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
24 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
25 schizophrenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100753
26 intellectual disability, mild 32 occasional (7.5%) HP:0001256
27 specific learning disability 32 HP:0001328
28 hypoplasia of the corpus callosum 32 HP:0002079

Symptoms via clinical synopsis from OMIM:

Head And Neck Eyes:

Neurologic Behavioral Psychiatric Manifestations:

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

Head And Neck Face:
frontal bossing
mild dysmorphism

Growth Height:
normal height

Head And Neck Head:
macrocephaly (half of cases)

Clinical features from OMIM:


Drugs & Therapeutics for Chromosome 1q21.1 Duplication Syndrome

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Online Study of Individuals With 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:

Heart, Eye

Publications for Chromosome 1q21.1 Duplication Syndrome

Articles related to Chromosome 1q21.1 Duplication Syndrome:

# Title Authors PMID Year
Clinical phenotype of the recurrent 1q21.1 copy-number variant. 8
26066539 2016
1q21.1 Microduplication expression in adults. 8
23018752 2013
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 8
21792059 2011
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 8
21844811 2011
Penetrance for copy number variants associated with schizophrenia. 8
20587603 2010
Population analysis of large copy number variants and hotspots of human genetic disease. 8
19166990 2009
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. 8
19029900 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. 8
18784092 2008
Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome. 38
29922639 2018
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. 38
28778789 2017

Variations for Chromosome 1q21.1 Duplication Syndrome

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

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 subset of 158 genes:FLG ; GJA5 ; GJA8 ; POGZ ; SF3B4 GRCh37/hg19 1q21.1-21.3(chr1: 144927578-153223600)x3 copy number gain Pathogenic 1:144927578-153223600 :0-0
2 subset of 31 genes:GJA5 ; GJA8 GRCh37/hg19 1q21.1-21.2(chr1: 145015937-147416122) copy number gain Pathogenic 1:145015937-147416122 :0-0
3 covers 27 genes, none of which curated to show dosage sensitivity GRCh37/hg19 1q21.1-21.2(chr1: 145103956-147220326) copy number gain Pathogenic 1:145103956-147220326 :0-0
4 ACP6 ; BCL9 ; CHD1L ; FMO5 ; GPR89A ; NBPF11 ; NBPF12 ; PRKAB2 ; TRN-GTT9-1 ; TRQ-CTG3-1 GRCh37/hg19 1q21.1-21.2(chr1: 145765424-147142037) copy number gain Pathogenic 1:145765424-147142037 :0-0
5 subset of 14 genes:GJA5 ; GJA8 GRCh37/hg19 1q21.1-21.2(chr1: 145740598-147825678) copy number gain Pathogenic 1:145740598-147825678 :0-0

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 11.22 TLE3 FOXP2
2 10.44 HRAS FOXP2

GO Terms for Chromosome 1q21.1 Duplication Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 8.96 TLE3 HRAS
2 positive regulation of epithelial cell proliferation GO:0050679 8.62 HRAS FOXP2

Sources for Chromosome 1q21.1 Duplication Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
Loading form....