MCID: CHR271
MIFTS: 18

Chromosome 9q Deletion malady

Rare diseases category

Aliases & Classifications for Chromosome 9q Deletion

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Chromosome 9q Deletion, Aliases & Descriptions:

Name: Chromosome 9q Deletion 41
Partial Monosomy 9q 41
9q Deletion 41
 
Deletion 9q 41
Monosomy 9q 41
9q Monosomy 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


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). The compound zinc have been mentioned in the context of this disorder. Related mouse phenotypes are pigmentation and limbs/digits/tail.

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:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1kleefstra syndrome10.5
2infantile myofibromatosis10.2
3basal cell nevus syndrome10.1PTCH1
4leukemia10.1
5splenomegaly10.1
6trisomy 2210.1
7skin benign neoplasm9.9XPA, PTCH1
8xeroderma pigmentosum, variant type9.8PTCH1, XPA
9adenocarcinoma9.8PTCH1, XPA
10basal cell carcinoma9.8PTCH1, XPA
11tongue squamous cell carcinoma9.7PTCH1, XPA

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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Drug clinical trials:

Search ClinicalTrials for Chromosome 9q Deletion

Search 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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MGI Mouse Phenotypes related to Chromosome 9q Deletion:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2XPA, PTCH1
2MP:00053719.1XPA, PTCH1
3MP:00053868.6XPA, PTCH1, EHMT1
4MP:00036318.5XPA, PTCH1, EHMT1
5MP:00053788.4EHMT1, PTCH1, XPA
6MP:00107688.2XPA, PTCH1, EHMT1

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:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1EHMT1NM_024757.4(EHMT1): c.3502C> T (p.Arg1168Ter)single nucleotide variantPathogenicrs121918301GRCh37Chr 9, 140712552: 140712552
2EHMT1NM_024757.4(EHMT1): c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs)deletionPathogenicrs137852715GRCh37Chr 9, 140652375: 140652387
3EHMT1NM_024757.4(EHMT1): c.3218G> A (p.Cys1073Tyr)single nucleotide variantPathogenicrs137852726GRCh37Chr 9, 140708920: 140708920
4EHMT1NM_024757.4(EHMT1): c.871C> T (p.Arg291Ter)single nucleotide variantPathogenicrs137852714GRCh37Chr 9, 140637870: 140637870
5EHMT1NM_024757.4(EHMT1): c.1533_1536delAGAC (p.Asp512Alafs)deletionPathogenicrs137852716GRCh37Chr 9, 140657158: 140657161
6EHMT1NM_024757.4(EHMT1): c.1810C> T (p.Gln604Ter)single nucleotide variantPathogenicrs137852717GRCh37Chr 9, 140671088: 140671088
7EHMT1NM_024757.4(EHMT1): c.1858C> T (p.Arg620Ter)single nucleotide variantPathogenicrs137852718GRCh37Chr 9, 140671136: 140671136
8EHMT1NM_024757.4: c.2029insGinsertionPathogenic
9EHMT1NM_024757.4(EHMT1): c.2193-1G> Csingle nucleotide variantPathogenicrs137852720GRCh37Chr 9, 140674086: 140674086
10EHMT1NM_024757.4(EHMT1): c.2863_2864delGT (p.Val955Argfs)deletionPathogenicrs137852721GRCh37Chr 9, 140706063: 140706064
11EHMT1NM_024757.4(EHMT1): c.2868-1G> Asingle nucleotide variantPathogenicrs137852722GRCh37Chr 9, 140707457: 140707457
12EHMT1NM_024757.4: c.2878_2881undetermined variantPathogenic
13EHMT1NM_024757.4(EHMT1): c.3180+1G> Tsingle nucleotide variantPathogenicrs137852724GRCh37Chr 9, 140707983: 140707983
14EHMT1NM_024757.4(EHMT1): c.3229C> T (p.Gln1077Ter)single nucleotide variantPathogenicrs137852725GRCh37Chr 9, 140708931: 140708931
15EHMT1NM_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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Compounds for genes affiliated with Chromosome 9q Deletion

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Sources:
43Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1zinc43 2410.1XPA, PTCH1

GO Terms for genes affiliated with Chromosome 9q Deletion

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Cellular components related to Chromosome 9q Deletion according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Golgi apparatusGO:00057949.1XPA, PTCH1

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:00001229.3PTCH1, EHMT1

Products for genes affiliated with Chromosome 9q Deletion

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chromosome 9q Deletion

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet