MCID: CHR271
MIFTS: 12

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 47
Partial Monosomy 9q 47
9q Deletion 47
 
Deletion 9q 47
Monosomy 9q 47
9q Monosomy 47

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 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 syndrome11.3
2infantile myofibromatosis9.9
3trisomy 229.7

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 20)
id Gene Variation Type Significance SNP ID Assembly Location
1EHMT1NM_024757.4(EHMT1): c.391delG (p.Ala131Profs)deletionPathogenicrs797045043GRCh37Chr 9, 140611383: 140611383
2EHMT1NM_024757.4(EHMT1): c.3413G> A (p.Trp1138Ter)SNVPathogenicrs886037776GRCh37Chr 9, 140711929: 140711929
3EHMT1NM_024757.4(EHMT1): c.673C> T (p.Arg225Ter)SNVPathogenicrs879255531GRCh37Chr 9, 140622831: 140622831
4EHMT1NM_024757.4(EHMT1): c.1349_1352delAGAA (p.Lys450Serfs)deletionPathogenicrs886042181GRCh37Chr 9, 140648723: 140648726
5EHMT1NM_024757.4(EHMT1): c.3502C> T (p.Arg1168Ter)SNVPathogenicrs121918301GRCh37Chr 9, 140712552: 140712552
6EHMT1NM_024757.4(EHMT1): c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs)deletionPathogenicrs137852715GRCh37Chr 9, 140652375: 140652387
7EHMT1NM_024757.4(EHMT1): c.3218G> A (p.Cys1073Tyr)SNVPathogenicrs137852726GRCh37Chr 9, 140708920: 140708920
8EHMT1NM_024757.4(EHMT1): c.871C> T (p.Arg291Ter)SNVPathogenicrs137852714GRCh37Chr 9, 140637870: 140637870
9EHMT1NM_024757.4(EHMT1): c.3181-80_3233deldeletionPathogenicGRCh37Chr 9, 140708803: 140708935
10EHMT1NM_024757.4(EHMT1): c.1533_1536delAGAC (p.Asp512Alafs)deletionPathogenicrs137852716GRCh37Chr 9, 140657158: 140657161
11EHMT1NM_024757.4(EHMT1): c.1810C> T (p.Gln604Ter)SNVPathogenicrs137852717GRCh37Chr 9, 140671088: 140671088
12EHMT1NM_024757.4(EHMT1): c.1858C> T (p.Arg620Ter)SNVPathogenicrs137852718GRCh37Chr 9, 140671136: 140671136
13EHMT1NM_024757.4(EHMT1): c.2028dupG (p.Pro677Alafs)duplicationPathogenicrs786205128GRCh37Chr 9, 140672343: 140672343
14EHMT1NM_024757.4(EHMT1): c.2193-1G> CSNVPathogenicrs137852720GRCh37Chr 9, 140674086: 140674086
15EHMT1NM_024757.4(EHMT1): c.2863_2864delGT (p.Val955Argfs)deletionPathogenicrs137852721GRCh37Chr 9, 140706063: 140706064
16EHMT1NM_024757.4(EHMT1): c.2868-1G> ASNVPathogenicrs137852722GRCh37Chr 9, 140707457: 140707457
17EHMT1NM_024757.4(EHMT1): c.2877_2880delTTCT (p.Ser960Glyfs)deletionPathogenicrs786205129GRCh37Chr 9, 140707467: 140707470
18EHMT1NM_024757.4(EHMT1): c.3180+1G> TSNVPathogenicrs137852724GRCh37Chr 9, 140707983: 140707983
19EHMT1NM_024757.4(EHMT1): c.3229C> T (p.Gln1077Ter)SNVPathogenicrs137852725GRCh37Chr 9, 140708931: 140708931
20EHMT1NM_024757.4(EHMT1): c.3589C> T (p.Arg1197Trp)SNVPathogenicrs137852727GRCh37Chr 9, 140728849: 140728849

Copy number variations for Chromosome 9q Deletion from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
13919210111746097111885313DeletionADD39q deletion syndrome
22486839136600000140273252DeletionEHMT9q deletion syndrome
32493029139596351139604758DeletionZMYND199q deletion syndrome
42493059139619916139629633DeletionARRDC19q deletion syndrome
52493119139629609139633070DeletionC9orf379q deletion syndrome
62493159139633264139850399DeletionEHMT19q deletion syndrome
72493429139892061140136452DeletionCACNA1B9q deletion syndrome

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
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