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 57 12 53 29 13 6 15 73
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

Characteristics:

Orphanet epidemiological data:

59
1q21.1 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
incomplete penetrance


HPO:

32
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 : 53 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, is also known as 1q21.1 microduplication syndrome. 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 macrocephaly and hypertelorism

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.

Wikipedia : 76 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

Symptoms & Phenotypes for Chromosome 1q21.1 Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
4 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
8 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
9 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
10 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
11 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
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

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

26 (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 29

Anatomical Context for Chromosome 1q21.1 Duplication Syndrome

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

41
Heart

Publications for Chromosome 1q21.1 Duplication Syndrome

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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