MCID: CHR271
MIFTS: 10

Chromosome 9q Deletion malady

Category: Rare diseases

Aliases & Classifications for Chromosome 9q Deletion

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Aliases & Descriptions for Chromosome 9q Deletion:

Name: Chromosome 9q Deletion 45
Partial Monosomy 9q 45
9q Deletion 45
 
Deletion 9q 45
Monosomy 9q 45
9q Monosomy 45

Classifications:



Summaries for Chromosome 9q Deletion

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NIH Rare Diseases:45 Chromosome 9q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 9. the severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. features that often occur in people with chromosome 9q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. chromosome testing of both parents can provide more information on whether or not the deletion was inherited. in most cases, parents do not have any chromosomal anomaly. however, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. the balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. treatment is based on the signs and symptoms present in each person. this page is meant to provide general information about 9q deletions. you can contact gard if you have questions about a specific deletion on chromosome 9. to learn more about chromosomal anomalies please visit our gard webpage on faqs about chromosome disorders. last updated: 4/14/2016

MalaCards based summary: Chromosome 9q Deletion, also known as partial monosomy 9q, is related to kleefstra syndrome and gastric cancer. An important gene associated with Chromosome 9q Deletion is PTCH1 (Patched 1). Affiliated tissues include testes.

Related Diseases for Chromosome 9q Deletion

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Diseases related to Chromosome 9q Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1kleefstra syndrome11.8
2gastric cancer10.2
3kidney disease10.2
4polycystic kidney disease10.2

Symptoms for Chromosome 9q Deletion

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Drugs & Therapeutics for Chromosome 9q Deletion

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chromosome 9q Deletion

Genetic Tests for Chromosome 9q Deletion

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Anatomical Context for Chromosome 9q Deletion

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MalaCards organs/tissues related to Chromosome 9q Deletion:

33
Testes

Animal Models for Chromosome 9q Deletion or affiliated genes

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Publications for Chromosome 9q Deletion

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Articles related to Chromosome 9q Deletion:

idTitleAuthorsYear
1
Rosai-Dorfman disease presenting as choroidal melanoma: a case report and review of the literature. (23090417)
2013
2
Caspase activation in Alzheimer's disease: early to rise and late to bed. (19317178)
2008

Variations for Chromosome 9q Deletion

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Expression for genes affiliated with Chromosome 9q Deletion

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Search GEO for disease gene expression data for Chromosome 9q Deletion.

Pathways for genes affiliated with Chromosome 9q Deletion

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GO Terms for genes affiliated with Chromosome 9q Deletion

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Sources for Chromosome 9q Deletion

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet