MCID: CHR225
MIFTS: 28

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 58 12 54 30 13 6 15 74
1q21.1 Microduplication Syndrome 12 54 60
Trisomy 1q21.1 12 60
1q21.1 Duplication Syndrome 26
1q21.1 Microduplication 26
1q21.1 Duplication 26
Dup(1)(q21.1) 60

Characteristics:

Orphanet epidemiological data:

60
1q21.1 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
incomplete penetrance


HPO:

33
chromosome 1q21.1 duplication syndrome:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 1q21.1 Duplication Syndrome

NIH Rare Diseases : 54 Chromosome 1q21.1 duplicationsyndrome 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.

MalaCards based summary : Chromosome 1q21.1 Duplication Syndrome, also known as 1q21.1 microduplication syndrome, is related to epilepsy. An important gene associated with Chromosome 1q21.1 Duplication Syndrome is DUP1Q21 (Chromosome 1q21.1 Duplication Syndrome), and among its related pathways/superpathways is Wnt / Hedgehog / Notch. Affiliated tissues include heart, and related phenotypes are intellectual disability and global developmental delay

Genetics Home Reference : 26 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.

Wikipedia : 77 1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome... more...

Description 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:

# Related Disease Score Top Affiliating Genes
1 epilepsy 10.1

Symptoms & Phenotypes for Chromosome 1q21.1 Duplication Syndrome

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

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
4 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
5 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
6 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
7 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
8 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
9 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
10 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
11 hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0000738
12 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
13 hypertonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001276
14 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
15 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
16 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
17 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
18 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
19 arthrogryposis multiplex congenita 60 33 occasional (7.5%) Occasional (29-5%) HP:0002804
20 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
21 hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002827
22 hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000047
23 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
24 tetralogy of fallot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001636
25 schizophrenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100753
26 intellectual disability, mild 33 occasional (7.5%) HP:0001256
27 specific learning disability 33 HP:0001328
28 hypoplasia of the corpus callosum 33 HP:0002079

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

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 Face:
frontal bossing
mild dysmorphism

Growth Height:
normal height

Head And Neck Head:
macrocephaly (half of cases)

Clinical features from OMIM:

612475

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

27 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.7 FOXP2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.7 FOXP2 TLE3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.7 TLE3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.7 TLE3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.7 TLE3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.7 FOXP2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.7 FOXP2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.7 FOXP2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.7 FOXP2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.7 FOXP2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.28 TLE3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.28 FOXP2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.28 FOXP2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.28 TLE3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.28 TLE3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.28 TLE3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.28 FOXP2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.28 FOXP2 TLE3

Drugs & Therapeutics for Chromosome 1q21.1 Duplication Syndrome

Search Clinical Trials , 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 30

Anatomical Context for Chromosome 1q21.1 Duplication Syndrome

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

42
Heart

Publications for Chromosome 1q21.1 Duplication Syndrome

Articles related to Chromosome 1q21.1 Duplication Syndrome:

# Title Authors Year
1
1q21.1 Duplication syndrome and epilepsy: Case report and review. ( 29379884 )
2018

Variations for Chromosome 1q21.1 Duplication Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 158 genes:FLG; GJA5; GJA8; POGZ; SF3B4 GRCh37/hg19 1q21.1-21.3(chr1: 144927578-153223600)x3 copy number gain Pathogenic GRCh37 Chromosome 1, 144927578: 153223600
2 subset of 31 genes:GJA5; GJA8 GRCh37/hg19 1q21.1-21.2(chr1: 145015937-147416122) copy number gain Pathogenic GRCh37 Chromosome 1, 145015937: 147416122
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 GRCh37 Chromosome 1, 145103956: 147220326
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 GRCh37 Chromosome 1, 145765424: 147142037
5 subset of 14 genes:GJA5; GJA8 GRCh37/hg19 1q21.1-21.2(chr1: 145740598-147825678) copy number gain Pathogenic GRCh37 Chromosome 1, 145740598: 147825678

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 10.88 FOXP2 TLE3

GO Terms for Chromosome 1q21.1 Duplication Syndrome

Sources for Chromosome 1q21.1 Duplication Syndrome

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
Content
Loading form....