MCID: CHR566
MIFTS: 13

Chromosome 1q21.1 Deletion Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 1q21.1 Deletion Syndrome

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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:



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Disease Ontology11 DOID:0060411
ICD1030 Q93.5

Summaries for Chromosome 1q21.1 Deletion Syndrome

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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. An important gene associated with Chromosome 1q21.1 Deletion Syndrome is HRAS (HRas Proto-Oncogene, GTPase).

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

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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
5chromosome 6q11-q14 deletion syndrome9.5DEL1Q21, 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

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Drugs & Therapeutics for Chromosome 1q21.1 Deletion Syndrome

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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

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Anatomical Context for Chromosome 1q21.1 Deletion Syndrome

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Publications for Chromosome 1q21.1 Deletion Syndrome

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Variations for Chromosome 1q21.1 Deletion Syndrome

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

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

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

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

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Sources for Chromosome 1q21.1 Deletion Syndrome

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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