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 47
1q21.1 Microdeletion 47 25
Monosomy 1q21.1 11 47
 
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 25
Chromosome 1q21.1 Microdeletion Syndrome 47
1q21.1 Contiguous Gene Deletion 25
1q21.1 Deletion 25

Classifications:



External Ids:

Disease Ontology11 DOID:0060411
ICD1029 Q93.5

Summaries for Chromosome 1q21.1 Deletion Syndrome

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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.

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).

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 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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Animal Models for Chromosome 1q21.1 Deletion Syndrome or affiliated genes

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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet