MCID: CHR271
MIFTS: 12

Chromosome 9q Deletion malady

Rare diseases category

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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MalaCards based summary: Chromosome 9q Deletion, also known as partial monosomy 9q, is related to kleefstra syndrome and infantile myofibromatosis. An important gene associated with Chromosome 9q Deletion is EHMT1 (Euchromatic Histone-Lysine N-Methyltransferase 1).

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 syndrome10.5
2infantile myofibromatosis10.2
3leukemia10.2
4splenomegaly10.2
5trisomy 2210.2
6chromosome 9q duplication9.8EHMT1, PTCH1

Graphical network of diseases related to Chromosome 9q Deletion:



Diseases related to chromosome 9q deletion

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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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
NBCCS secondary to an interstitial chromosome 9q deletion. (15347344)
2004
2
Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. (8755929)
1996

Variations for Chromosome 9q Deletion

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Clinvar genetic disease variations for Chromosome 9q Deletion:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1EHMT1NM_024757.4(EHMT1): c.391delG (p.Ala131Profs)deletionPathogenicrs797045043GRCh38Chr 9, 137716931: 137716931
2EHMT1NM_024757.4(EHMT1): c.3502C> T (p.Arg1168Ter)single nucleotide variantPathogenicrs121918301GRCh37Chr 9, 140712552: 140712552
3EHMT1NM_024757.4(EHMT1): c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs)deletionPathogenicrs137852715GRCh37Chr 9, 140652375: 140652387
4EHMT1NM_024757.4(EHMT1): c.3218G> A (p.Cys1073Tyr)single nucleotide variantPathogenicrs137852726GRCh37Chr 9, 140708920: 140708920
5EHMT1NM_024757.4(EHMT1): c.871C> T (p.Arg291Ter)single nucleotide variantPathogenicrs137852714GRCh37Chr 9, 140637870: 140637870
6EHMT1NM_024757.4(EHMT1): c.3181-80_3233deldeletionPathogenicGRCh37Chr 9, 140708803: 140708935
7EHMT1NM_024757.4(EHMT1): c.1533_1536delAGAC (p.Asp512Alafs)deletionPathogenicrs137852716GRCh37Chr 9, 140657158: 140657161
8EHMT1NM_024757.4(EHMT1): c.1810C> T (p.Gln604Ter)single nucleotide variantPathogenicrs137852717GRCh37Chr 9, 140671088: 140671088
9EHMT1NM_024757.4(EHMT1): c.1858C> T (p.Arg620Ter)single nucleotide variantPathogenicrs137852718GRCh37Chr 9, 140671136: 140671136
10EHMT1NM_024757.4(EHMT1): c.2028dupG (p.Pro677Alafs)duplicationPathogenicrs786205128GRCh37Chr 9, 140672343: 140672343
11EHMT1NM_024757.4(EHMT1): c.2193-1G> Csingle nucleotide variantPathogenicrs137852720GRCh37Chr 9, 140674086: 140674086
12EHMT1NM_024757.4(EHMT1): c.2863_2864delGT (p.Val955Argfs)deletionPathogenicrs137852721GRCh37Chr 9, 140706063: 140706064
13EHMT1NM_024757.4(EHMT1): c.2868-1G> Asingle nucleotide variantPathogenicrs137852722GRCh37Chr 9, 140707457: 140707457
14EHMT1NM_024757.4(EHMT1): c.2877_2880delTTCT (p.Ser960Glyfs)deletionPathogenicrs786205129GRCh37Chr 9, 140707467: 140707470
15EHMT1NM_024757.4(EHMT1): c.3180+1G> Tsingle nucleotide variantPathogenicrs137852724GRCh37Chr 9, 140707983: 140707983
16EHMT1NM_024757.4(EHMT1): c.3229C> T (p.Gln1077Ter)single nucleotide variantPathogenicrs137852725GRCh37Chr 9, 140708931: 140708931
17EHMT1NM_024757.4(EHMT1): c.3589C> T (p.Arg1197Trp)single nucleotide variantPathogenicrs137852727GRCh37Chr 9, 140728849: 140728849

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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Biological processes related to Chromosome 9q Deletion according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription from RNA polymerase II promoterGO:00001229.1EHMT1, PTCH1
2negative regulation of transcription, DNA-templatedGO:00458928.8EHMT1, PTCH1

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