MCID: CHR583
MIFTS: 39

Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

MalaCards integrated aliases for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:

Name: Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 57 43 6
Chromosome 1q21.1 Deletion Syndrome 57 12 43 13 15
1q21.1 Microdeletion Syndrome 12 20 58
Monosomy 1q21.1 12 20 58
1q21.1 Microdeletion 20 43
Chromosome 1q21.1 Microdeletion Syndrome 20
1q21.1 Contiguous Gene Deletion 43
1q21.1 Deletion 43
Del(1)(q21) 58

Characteristics:

Orphanet epidemiological data:

58
1q21.1 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance

Inheritance:
autosomal dominant
isolated cases


HPO:

31
chromosome 1q21.1 deletion syndrome, 1.35-mb:
Inheritance autosomal dominant inheritance sporadic
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

MedlinePlus Genetics : 43 1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features.About 75 percent of all children with a 1q21.1 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. The intellectual disability and learning problems associated with this genetic change are usually mild.Distinctive facial features can also be associated with 1q21.1 microdeletions. The changes are usually subtle and can include a prominent forehead; a large, rounded nasal tip; a long space between the nose and upper lip (philtrum); and a high, arched roof of the mouth (palate). Other common signs and symptoms of 1q21.1 microdeletions include an unusually small head (microcephaly), short stature, and eye problems such as clouding of the lenses (cataracts). Less frequently, 1q21.1 microdeletions are associated with heart defects, abnormalities of the genitalia or urinary system, bone abnormalities (particularly in the hands and feet), and hearing loss.Neurological problems that have been reported in people with a 1q21.1 microdeletion include seizures and weak muscle tone (hypotonia). Psychiatric or behavioral problems affect a small percentage of people with this genetic change. These include developmental conditions called autism spectrum disorders that affect communication and social interaction, attention-deficit/hyperactivity disorder (ADHD), and sleep disturbances. Studies suggest that deletions of genetic material from the 1q21.1 region may also be risk factors for schizophrenia.Some people with a 1q21.1 microdeletion do not have any of the intellectual, physical, or psychiatric features described above. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have a relative with the chromosomal change. It is unknown why 1q21.1 microdeletions cause cognitive and physical changes in some individuals but few or no health problems in others, even within the same family.

MalaCards based summary : Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb, also known as chromosome 1q21.1 deletion syndrome, is related to thrombocytopenia-absent radius syndrome and thrombocytopenia. An important gene associated with Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb is DEL1Q21 (Chromosome 1q21.1 Deletion Syndrome). Affiliated tissues include eye, brain and heart, and related phenotypes are intellectual disability and frontal bossing

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.

GARD : 20 1q21.1 microdeletion syndrome is a chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted). Some people with this deletion have no observable features while others have variable findings that can include a small head (microcephaly), developmental delay (speech and motor delays), mild intellectual disability, distinctive facial features, and eye abnormalities. Other findings can include seizures as well as abnormalities of the heart, skeleton, and urinary system. Psychiatric and behavioral features can include autism spectrum disorders, anxiety and mood disorders, schizophrenia, attention deficit hyperactivity disorder and sleep disorders. This syndrome is caused by a deletion in a specific region of 1q21.1, which is distinct from the deletion region that causes TAR syndrome.

Wikipedia : 74 1q21.1 deletion syndrome is a rare aberration of chromosome 1. A human cell has one pair of identical... more...

More information from OMIM: 612474

Related Diseases for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Graphical network of the top 20 diseases related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:



Diseases related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Symptoms & Phenotypes for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Human phenotypes related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
3 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
9 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
10 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
11 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
12 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
13 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
14 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
15 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
16 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
17 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
18 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
19 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
20 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
21 broad hallux phalanx 58 31 occasional (7.5%) Occasional (29-5%) HP:0010059
22 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
23 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
24 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
25 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
26 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
27 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
28 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
29 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
30 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
31 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
32 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
33 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
34 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
35 interrupted aortic arch 58 31 occasional (7.5%) Occasional (29-5%) HP:0011611
36 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
37 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
38 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
39 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
40 foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001829
41 schizophrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100753
42 high hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008499
43 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
44 short foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001773
45 ankyloglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010296
46 seizure 31 occasional (7.5%) HP:0001250
47 hypotonia 31 occasional (7.5%) HP:0001252
48 seizures 58 Occasional (29-5%)
49 muscular hypotonia 58 Occasional (29-5%)
50 bicuspid aortic valve 31 HP:0001647

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Face:
frontal bossing
mild dysmorphism

Neurologic Central Nervous System:
autism
schizophrenia
mild to moderate mental retardation
normal neurological development is possible

Head And Neck Nose:
bulbous nose

Skeletal Hands:
broad thumbs

Growth Height:
normal or reduced

Head And Neck Head:
microcephaly

Cardiovascular Vascular:
coarctation of aorta
patent ductus arteriosus
truncus arteriosus
transposition of great vessels

Head And Neck Eyes:
deep-set eyes

Skeletal Feet:
broad halluces
duplicated or bifid halluces (minority)

Cardiovascular Heart:
bicuspid aortic valve with aneurysm

Clinical features from OMIM®:

612474 (Updated 05-Mar-2021)

Drugs & Therapeutics for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight Recruiting NCT01238250

Search NIH Clinical Center for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Genetic Tests for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Anatomical Context for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

MalaCards organs/tissues related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:

40
Eye, Brain, Heart

Publications for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Articles related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:

(show all 16)
# Title Authors PMID Year
1
Clinical phenotype of the recurrent 1q21.1 copy-number variant. 57
26066539 2016
2
DUF1220-domain copy number implicated in human brain-size pathology and evolution. 57
22901949 2012
3
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 57
21792059 2011
4
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 57
21844811 2011
5
Penetrance for copy number variants associated with schizophrenia. 57
20587603 2010
6
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. 57
19181681 2009
7
Population analysis of large copy number variants and hotspots of human genetic disease. 57
19166990 2009
8
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. 57
19029900 2008
9
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. 57
18784092 2008
10
Large recurrent microdeletions associated with schizophrenia. 57
18668039 2008
11
Genomic imbalances associated with mullerian aplasia. 57
18039948 2008
12
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. 57
18369103 2008
13
Global variation in copy number in the human genome. 57
17122850 2006
14
Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. 57
15117819 2004
15
Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1. 61
32655619 2020
16
Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome. 61
30364227 2018

Variations for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

ClinVar genetic disease variations for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BCL9 Deletion Pathogenic 374371 1:146560564-147416122
2 BCL9 GRCh37/hg19 1q21.1-21.2(chr1:146618988-147825678) copy number loss Pathogenic 625652 1:146618988-147825678
3 BCL9 GRCh37/hg19 1q21.1-21.2(chr1:146560564-147416122) copy number loss Pathogenic 625685 1:146560564-147416122
4 BCL9 GRCh37/hg19 1q21.1-21.2(chr1:146521698-147721869)x1 copy number loss Pathogenic 666433 1:146521698-147721869
5 GJA5 NM_181703.4(GJA5):c.995G>A (p.Arg332His) SNV Uncertain significance 292448 rs116551187 1:147230352-147230352 1:147758244-147758244
6 GJA8 NM_005267.5(GJA8):c.1033G>A (p.Glu345Lys) SNV Uncertain significance 931889 1:147381115-147381115 1:147908988-147908988
7 BCL9 Deletion not provided 684447 1:145723417-147897962

Expression for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Search GEO for disease gene expression data for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb.

Pathways for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

GO Terms for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Cellular components related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi cisterna membrane GO:0032580 8.62 GPR89B GPR89A

Biological processes related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T cell differentiation GO:0030217 9.16 GPR89B GPR89A
2 inorganic anion transport GO:0015698 8.96 GPR89B GPR89A
3 intracellular pH reduction GO:0051452 8.62 GPR89B GPR89A

Molecular functions related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated anion channel activity GO:0008308 8.62 GPR89B GPR89A

Sources for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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