Chromosome 1q21.1 Deletion Syndrome malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Chromosome 1q21.1 Deletion Syndrome

Aliases & Descriptions for Chromosome 1q21.1 Deletion Syndrome:

Name: Chromosome 1q21.1 Deletion Syndrome 12 25 13 14
1q21.1 Microdeletion Syndrome 12 50
1q21.1 Microdeletion 50 25
Monosomy 1q21.1 12 50
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 25
Chromosome 1q21.1 Microdeletion Syndrome 50
1q21.1 Contiguous Gene Deletion 25
1q21.1 Deletion 25


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Disease Ontology 12 DOID:0060411
ICD10 33 Q93.5

Summaries for Chromosome 1q21.1 Deletion Syndrome

NIH Rare Diseases : 50 1q21.1 microdeletion syndrome is a newly described 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). it has been described in 46 patients to date. some people with this deletion have no observable features; while others have variable features that can include small head, 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, 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: 8/8/2011

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 seizures, agenesis of corpus callosum and frontal bossing. 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 abcc2-related altered drug metabolism 9.8 DEL1Q21 HRAS
6 chromosome 19p13.13 deletion syndrome 9.7 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 seizures 32 HP:0001250
2 agenesis of corpus callosum 32 HP:0001274
3 frontal bossing 32 HP:0002007
4 high palate 32 HP:0000218
5 hydrocephalus 32 HP:0000238
6 depression 32 HP:0000716
7 intellectual disability 32 HP:0001249
8 muscular hypotonia 32 HP:0001252
9 failure to thrive 32 HP:0001508
10 sleep disturbance 32 HP:0002360
11 scoliosis 32 HP:0002650
12 inguinal hernia 32 HP:0000023
13 cataract 32 HP:0000518
14 global developmental delay 32 HP:0001263
15 wide nasal bridge 32 HP:0000431
16 microcephaly 32 HP:0000252
17 sensorineural hearing impairment 32 HP:0000407
18 short stature 32 HP:0004322
19 broad hallux phalanx 32 HP:0010059
20 broad thumb 32 HP:0011304
21 long philtrum 32 HP:0000343
22 strabismus 32 HP:0000486
23 patent ductus arteriosus 32 HP:0001643
24 joint hyperflexibility 32 HP:0005692
25 epicanthus 32 HP:0000286
26 short foot 32 HP:0001773
27 cryptorchidism 32 HP:0000028
28 autism 32 HP:0000717
29 attention deficit hyperactivity disorder 32 HP:0007018
30 anxiety 32 HP:0000739
31 microphthalmia 32 HP:0000568
32 intrauterine growth retardation 32 HP:0001511
33 deeply set eye 32 HP:0000490
34 clinodactyly of the 5th finger 32 HP:0004209
35 vesicoureteral reflux 32 HP:0000076
36 bulbous nose 32 HP:0000414
37 hand polydactyly 32 HP:0001161
38 talipes equinovarus 32 HP:0001762
39 foot polydactyly 32 HP:0001829
40 schizophrenia 32 HP:0100753
41 abnormality of the cardiac septa 32 HP:0001671
42 high-grade hypermetropia 32 HP:0008499
43 iris coloboma 32 HP:0000612
44 toe syndactyly 32 HP:0001770
45 hydronephrosis 32 HP:0000126
46 interrupted aortic arch 32 HP:0011611
47 ankyloglossia 32 HP:0010296

Drugs & Therapeutics for Chromosome 1q21.1 Deletion Syndrome

Interventional clinical trials:

id Name Status NCT ID Phase
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:

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

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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