MCID: CHR225
MIFTS: 25

Chromosome 1q21.1 Duplication Syndrome

Categories: Rare diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Chromosome 1q21.1 Duplication Syndrome

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

Name: Chromosome 1q21.1 Duplication Syndrome 53 12 49 28 13 14 69
1q21.1 Microduplication Syndrome 12 49 55
Trisomy 1q21.1 12 55
1q21.1 Duplication Syndrome 24
1q21.1 Microduplication 24
1q21.1 Duplication 24
Dup(1)(q21.1) 55

Characteristics:

Orphanet epidemiological data:

55
1q21.1 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
incomplete penetrance


HPO:

31
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 : 49 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. Last updated: 8/15/2013

MalaCards based summary : Chromosome 1q21.1 Duplication Syndrome, is also known as 1q21.1 microduplication syndrome, and has symptoms including seizures, macrocephaly and hypertelorism. An important gene associated with Chromosome 1q21.1 Duplication Syndrome is DUP1Q21 (Chromosome 1q21.1 Duplication Syndrome). Affiliated tissues include heart.

Genetics Home Reference : 24 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.

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:

53
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:

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
3 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
4 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
5 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
6 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
7 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
8 failure to thrive 55 31 occasional (7.5%) Occasional (29-5%) HP:0001508
9 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
10 hallucinations 55 31 occasional (7.5%) Occasional (29-5%) HP:0000738
11 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
12 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
13 hypertonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001276
14 gastroesophageal reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0002020
15 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
16 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
17 autism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000717
18 attention deficit hyperactivity disorder 55 31 occasional (7.5%) Occasional (29-5%) HP:0007018
19 arthrogryposis multiplex congenita 55 31 occasional (7.5%) Occasional (29-5%) HP:0002804
20 hip dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002827
21 hypospadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000047
22 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
23 tetralogy of fallot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001636
24 talipes equinovarus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001762
25 schizophrenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100753
26 intellectual disability, mild 31 occasional (7.5%) HP:0001256
27 specific learning disability 31 HP:0001328
28 hypoplasia of the corpus callosum 31 HP:0002079

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 28

Anatomical Context for Chromosome 1q21.1 Duplication Syndrome

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

38
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

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 perinuclear region of cytoplasm GO:0048471 8.62 HRAS SPAST

Sources for Chromosome 1q21.1 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....