MCID: CHR271
MIFTS: 15

Chromosome 9q Deletion malady

Categories: Rare diseases

Aliases & Classifications for Chromosome 9q Deletion

Aliases & Descriptions for Chromosome 9q Deletion:

Name: Chromosome 9q Deletion 50
Partial Monosomy 9q 50
9q Deletion 50
9q Monosomy 50
Deletion 9q 50
Monosomy 9q 50

Classifications:



Summaries for Chromosome 9q Deletion

NIH Rare Diseases : 50 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). Affiliated tissues include testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and craniofacial

Related Diseases for Chromosome 9q Deletion

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

id Related Disease Score Top Affiliating Genes
1 kleefstra syndrome 11.3
2 infantile myofibromatosis 9.9
3 chronic graft versus host disease 9.8 EHMT1 PTCH1
4 trisomy 22 9.7

Symptoms & Phenotypes for Chromosome 9q Deletion

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.5 EHMT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.5 PTCH1 EHMT1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.5 EHMT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.5 EHMT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.5 EHMT1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.5 EHMT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.5 EHMT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.5 PTCH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.5 EHMT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.5 PTCH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 EHMT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.5 PTCH1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.5 PTCH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.5 EHMT1

MGI Mouse Phenotypes related to Chromosome 9q Deletion:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.62 EHMT1 PTCH1

Drugs & Therapeutics for Chromosome 9q Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome 9q Deletion

Genetic Tests for Chromosome 9q Deletion

Anatomical Context for Chromosome 9q Deletion

MalaCards organs/tissues related to Chromosome 9q Deletion:

39
Testes

Publications for Chromosome 9q Deletion

Articles related to Chromosome 9q Deletion:

id Title Authors Year
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

ClinVar genetic disease variations for Chromosome 9q Deletion:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 EHMT1 NM_024757.4(EHMT1): c.3502C> T (p.Arg1168Ter) single nucleotide variant Pathogenic rs121918301 GRCh37 Chromosome 9, 140712552: 140712552
2 EHMT1 NM_024757.4(EHMT1): c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs) deletion Pathogenic rs137852715 GRCh37 Chromosome 9, 140652375: 140652387
3 EHMT1 NM_024757.4(EHMT1): c.3218G> A (p.Cys1073Tyr) single nucleotide variant Pathogenic rs137852726 GRCh37 Chromosome 9, 140708920: 140708920
4 EHMT1 NM_024757.4(EHMT1): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852714 GRCh37 Chromosome 9, 140637870: 140637870
5 EHMT1 NM_024757.4(EHMT1): c.3181-80_3233del deletion Pathogenic GRCh37 Chromosome 9, 140708803: 140708935
6 EHMT1 NM_024757.4(EHMT1): c.1533_1536delAGAC (p.Asp512Alafs) deletion Pathogenic rs137852716 GRCh37 Chromosome 9, 140657158: 140657161
7 EHMT1 NM_024757.4(EHMT1): c.1810C> T (p.Gln604Ter) single nucleotide variant Pathogenic rs137852717 GRCh37 Chromosome 9, 140671088: 140671088
8 EHMT1 NM_024757.4(EHMT1): c.1858C> T (p.Arg620Ter) single nucleotide variant Pathogenic rs137852718 GRCh37 Chromosome 9, 140671136: 140671136
9 EHMT1 NM_024757.4(EHMT1): c.2028dupG (p.Pro677Alafs) duplication Pathogenic rs786205128 GRCh38 Chromosome 9, 137777891: 137777891
10 EHMT1 NM_024757.4(EHMT1): c.2193-1G> C single nucleotide variant Pathogenic rs137852720 GRCh37 Chromosome 9, 140674086: 140674086
11 EHMT1 NM_024757.4(EHMT1): c.2863_2864delGT (p.Val955Argfs) deletion Pathogenic rs137852721 GRCh37 Chromosome 9, 140706063: 140706064
12 EHMT1 NM_024757.4(EHMT1): c.2868-1G> A single nucleotide variant Pathogenic rs137852722 GRCh37 Chromosome 9, 140707457: 140707457
13 EHMT1 NM_024757.4(EHMT1): c.2877_2880delTTCT (p.Ser960Glyfs) deletion Pathogenic rs786205129 GRCh38 Chromosome 9, 137813015: 137813018
14 EHMT1 NM_024757.4(EHMT1): c.3180+1G> T single nucleotide variant Pathogenic rs137852724 GRCh37 Chromosome 9, 140707983: 140707983
15 EHMT1 NM_024757.4(EHMT1): c.3229C> T (p.Gln1077Ter) single nucleotide variant Pathogenic rs137852725 GRCh37 Chromosome 9, 140708931: 140708931
16 EHMT1 NM_024757.4(EHMT1): c.3589C> T (p.Arg1197Trp) single nucleotide variant Pathogenic rs137852727 GRCh37 Chromosome 9, 140728849: 140728849
17 EHMT1 NM_024757.4(EHMT1): c.391delG (p.Ala131Profs) deletion Pathogenic rs797045043 GRCh37 Chromosome 9, 140611383: 140611383
18 EHMT1 NM_024757.4(EHMT1): c.3413G> A (p.Trp1138Ter) single nucleotide variant Pathogenic rs886037776 GRCh37 Chromosome 9, 140711929: 140711929
19 EHMT1 NM_024757.4(EHMT1): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs879255531 GRCh37 Chromosome 9, 140622831: 140622831
20 EHMT1 NM_024757.4(EHMT1): c.1349_1352delAGAA (p.Lys450Serfs) deletion Pathogenic rs886042181 GRCh37 Chromosome 9, 140648723: 140648726

Copy number variations for Chromosome 9q Deletion from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 39192 10 111746097 111885313 Deletion ADD3 9q deletion syndrome
2 248683 9 136600000 140273252 Deletion EHMT 9q deletion syndrome
3 249302 9 139596351 139604758 Deletion ZMYND19 9q deletion syndrome
4 249305 9 139619916 139629633 Deletion ARRDC1 9q deletion syndrome
5 249311 9 139629609 139633070 Deletion C9orf37 9q deletion syndrome
6 249315 9 139633264 139850399 Deletion EHMT1 9q deletion syndrome
7 249342 9 139892061 140136452 Deletion CACNA1B 9q deletion syndrome

Expression for Chromosome 9q Deletion

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

Pathways for Chromosome 9q Deletion

GO Terms for Chromosome 9q Deletion

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 8.96 EHMT1 PTCH1
2 negative regulation of transcription, DNA-templated GO:0045892 8.62 EHMT1 PTCH1

Sources for Chromosome 9q Deletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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