MCID: CHR566
MIFTS: 21

Chromosome 1q21.1 Deletion Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 1q21.1 Deletion Syndrome

About this section

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

Name: Chromosome 1q21.1 Deletion Syndrome 11 25 12 13
1q21.1 Microdeletion Syndrome 11 48
1q21.1 Microdeletion 48 25
Monosomy 1q21.1 11 48
 
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 25
Chromosome 1q21.1 Microdeletion Syndrome 48
1q21.1 Contiguous Gene Deletion 25
1q21.1 Deletion 25

Classifications:



External Ids:

Disease Ontology11 DOID:0060411
ICD1030 Q93.5

Summaries for Chromosome 1q21.1 Deletion Syndrome

About this section
NIH Rare Diseases:48 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 inguinal hernia, cryptorchidism and vesicoureteral reflux. 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

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
11q21.1 deletion12.1
2chromosome 1q21.1 deletion syndrome, 1.35-mb12.0
3thrombocytopenia-absent radius syndrome11.2
4heart disease9.9
5abcc2-related altered drug metabolism9.8DEL1Q21, HRAS
6chromosome 19p13.13 deletion syndrome9.7DEL1Q21, HRAS

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



Diseases related to chromosome 1q21.1 deletion syndrome

Symptoms & Phenotypes for Chromosome 1q21.1 Deletion Syndrome

About this section

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

 64 (show all 47)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia64 HP:0000023
2 cryptorchidism64 HP:0000028
3 vesicoureteral reflux64 HP:0000076
4 hydronephrosis64 HP:0000126
5 high palate64 HP:0000218
6 hydrocephalus64 HP:0000238
7 microcephaly64 HP:0000252
8 epicanthus64 HP:0000286
9 long philtrum64 HP:0000343
10 sensorineural hearing impairment64 HP:0000407
11 bulbous nose64 HP:0000414
12 wide nasal bridge64 HP:0000431
13 strabismus64 HP:0000486
14 deeply set eye64 HP:0000490
15 cataract64 HP:0000518
16 microphthalmia64 HP:0000568
17 iris coloboma64 HP:0000612
18 depression64 HP:0000716
19 autism64 HP:0000717
20 anxiety64 HP:0000739
21 hand polydactyly64 HP:0001161
22 intellectual disability64 HP:0001249
23 seizures64 HP:0001250
24 muscular hypotonia64 HP:0001252
25 global developmental delay64 HP:0001263
26 agenesis of corpus callosum64 HP:0001274
27 failure to thrive64 HP:0001508
28 intrauterine growth retardation64 HP:0001511
29 patent ductus arteriosus64 HP:0001643
30 abnormality of the cardiac septa64 HP:0001671
31 talipes equinovarus64 HP:0001762
32 toe syndactyly64 HP:0001770
33 short foot64 HP:0001773
34 foot polydactyly64 HP:0001829
35 frontal bossing64 HP:0002007
36 sleep disturbance64 HP:0002360
37 scoliosis64 HP:0002650
38 clinodactyly of the 5th finger64 HP:0004209
39 short stature64 HP:0004322
40 joint hyperflexibility64 HP:0005692
41 attention deficit hyperactivity disorder64 HP:0007018
42 high-grade hypermetropia64 HP:0008499
43 broad hallux phalanx64 HP:0010059
44 ankyloglossia64 HP:0010296
45 broad thumb64 HP:0011304
46 interrupted aortic arch64 HP:0011611
47 schizophrenia64 HP:0100753

Drugs & Therapeutics for Chromosome 1q21.1 Deletion Syndrome

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP)RecruitingNCT01238250

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

Genetic Tests for Chromosome 1q21.1 Deletion Syndrome

About this section

Anatomical Context for Chromosome 1q21.1 Deletion Syndrome

About this section

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

36
Eye, Heart

Publications for Chromosome 1q21.1 Deletion Syndrome

About this section

Variations for Chromosome 1q21.1 Deletion Syndrome

About this section

Expression for genes affiliated with Chromosome 1q21.1 Deletion Syndrome

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

Pathways for genes affiliated with Chromosome 1q21.1 Deletion Syndrome

About this section

GO Terms for genes affiliated with Chromosome 1q21.1 Deletion Syndrome

About this section

Sources for Chromosome 1q21.1 Deletion Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet