MCID: CHR225
MIFTS: 26

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 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, also known as 1q21.1 microduplication syndrome, is related to trehalase deficiency. An important gene associated with Chromosome 1q21.1 Duplication Syndrome is DUP1Q21 (Chromosome 1q21.1 Duplication Syndrome). Affiliated tissues include heart, and related phenotypes are cryptorchidism and hypospadias

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

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 trehalase deficiency 9.0 HRAS SPAST

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

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

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
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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