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 54 12 50 29 13 14 69
1q21.1 Microduplication Syndrome 12 50 56
Trisomy 1q21.1 12 56
1q21.1 Duplication Syndrome 25
1q21.1 Microduplication 25
1q21.1 Duplication 25
Dup(1)(q21.1) 56

Characteristics:

Orphanet epidemiological data:

56
1q21.1 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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 : 50 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 failure to thrive, strabismus and seizures. An important gene associated with Chromosome 1q21.1 Duplication Syndrome is DUP1Q21 (Chromosome 1q21.1 Duplication Syndrome). Affiliated tissues include heart.

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.

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:

54

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

Head And Neck- Face:
frontal bossing
mild dysmorphism

Growth- Height:
normal height

Head And Neck- Eyes:
hypertelorism

Neurologic- Behavioral Psychiatric Manifestations:
autism
schizophrenia

Head And Neck- Head:
macrocephaly (half of cases)


Clinical features from OMIM:

612475

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

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 occasional (7.5%) Occasional (29-5%) HP:0001508
2 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 hypertonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001276
5 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
6 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
7 hypospadias 56 32 occasional (7.5%) Occasional (29-5%) HP:0000047
8 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
9 arthrogryposis multiplex congenita 56 32 occasional (7.5%) Occasional (29-5%) HP:0002804
10 hip dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002827
11 frontal bossing 56 32 frequent (33%) Frequent (79-30%) HP:0002007
12 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
13 gastroesophageal reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0002020
14 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
15 talipes equinovarus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001762
16 hallucinations 56 32 occasional (7.5%) Occasional (29-5%) HP:0000738
17 macrocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000256
18 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
19 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
20 tetralogy of fallot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001636
21 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
22 schizophrenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0100753
23 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
24 hip dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001385
25 attention deficit hyperactivity disorder 56 32 occasional (7.5%) Occasional (29-5%) HP:0007018
26 hypoplasia of the corpus callosum 32 HP:0002079
27 intellectual disability, mild 32 occasional (7.5%) HP:0001256
28 specific learning disability 32 HP:0001328

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:

id 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:

39
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
id Gene Variation Type Significance SNP ID Assembly Location
1 subset of 162 genes:FLG; GJA5; GJA8; 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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....