MCID: CHR566
MIFTS: 24

Chromosome 1q21.1 Deletion Syndrome

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Chromosome 1q21.1 Deletion Syndrome

Summaries for Chromosome 1q21.1 Deletion Syndrome

NIH Rare Diseases : 50 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. last updated: 8/25/2017

MalaCards based summary : Chromosome 1q21.1 Deletion Syndrome, also known as 1q21.1 microdeletion syndrome, is related to 1q21.1 deletion and chromosome 1q21.1 deletion syndrome, 1.35-mb, and has symptoms including short stature, failure to thrive and scoliosis. An important gene associated with Chromosome 1q21.1 Deletion Syndrome is HRAS (HRas Proto-Oncogene, GTPase). Affiliated tissues include eye and heart.

Genetics Home Reference : 25 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.

Related Diseases for Chromosome 1q21.1 Deletion Syndrome

Diseases related to Chromosome 1q21.1 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 1q21.1 deletion 12.1
2 chromosome 1q21.1 deletion syndrome, 1.35-mb 12.0
3 thrombocytopenia-absent radius syndrome 11.2
4 heart disease 9.9
5 chromosomal duplication syndrome 9.5 DEL1Q21 HRAS

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



Diseases related to Chromosome 1q21.1 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 1q21.1 Deletion Syndrome

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

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

Drugs & Therapeutics for Chromosome 1q21.1 Deletion Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP) Recruiting NCT01238250

Search NIH Clinical Center for Chromosome 1q21.1 Deletion Syndrome

Genetic Tests for Chromosome 1q21.1 Deletion Syndrome

Anatomical Context for Chromosome 1q21.1 Deletion Syndrome

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

39
Eye, Heart

Publications for Chromosome 1q21.1 Deletion Syndrome

Variations for Chromosome 1q21.1 Deletion Syndrome

Expression for Chromosome 1q21.1 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 1q21.1 Deletion Syndrome.

Pathways for Chromosome 1q21.1 Deletion Syndrome

GO Terms for Chromosome 1q21.1 Deletion Syndrome

Sources for Chromosome 1q21.1 Deletion 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
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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
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