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 48
Partial Monosomy 9q 48
9q Deletion 48
Deletion 9q 48
Monosomy 9q 48
9q Monosomy 48


Summaries for Chromosome 9q Deletion

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NIH Rare Diseases:48 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 infantile myofibromatosis. An important gene associated with Chromosome 9q Deletion is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1). Related mouse phenotype Increased shRNA abundance (Z-score > 2).

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 & Phenotypes for Chromosome 9q Deletion

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GenomeRNAi Phenotypes related to Chromosome 9q Deletion according to GeneCards Suite gene sharing:

idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.1EHMT1, PTCH1

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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Publications for Chromosome 9q Deletion

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Articles related to Chromosome 9q Deletion:

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

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:

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:00001229.8EHMT1, PTCH1
2negative regulation of transcription, DNA-templatedGO:00458929.1EHMT1, PTCH1

Sources for Chromosome 9q Deletion

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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet