MCID: CHR271
MIFTS: 24

Chromosome 9q Deletion malady

Rare diseases, Fetal diseases, Bone diseases, Immune diseases categories

Summaries for Chromosome 9q Deletion

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MalaCards: Chromosome 9q Deletion, also known as gene deletion abnormality, is related to kleefstra syndrome and infantile myofibromatosis. An important gene associated with Chromosome 9q Deletion is XPA (xeroderma pigmentosum, complementation group A). The compound zinc have been mentioned in the context of this disorder. Related mouse phenotypes are pigmentation and limbs/digits/tail.

Aliases & Classifications for Chromosome 9q Deletion

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44NIH Rare Diseases, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases, Immune diseases


Aliases & Descriptions:

chromosome 9q deletion 44
gene deletion abnormality 63
partial monosomy 9q 44
chromosome deletion 63
9q monosomy 44
monosomy 9q 44
9q deletion 44
deletion 9q 44


Related Diseases for Chromosome 9q Deletion

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18GeneCards, 19GeneDecks
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Diseases in the Chromosome 9p Deletion family:

Chromosome 10p Deletion Chromosome 10q Deletion
Chromosome 11p Deletion Chromosome 11q Deletion
Chromosome 12p Deletion Chromosome 12q Deletion
Chromosome 13q Deletion Chromosome 14q Deletion
Chromosome 15q Deletion Chromosome 16p Deletion
Chromosome 16q Deletion Chromosome 17p Deletion
Chromosome 17q Deletion Chromosome 18p Deletion Syndrome
Chromosome 19p Deletion Chromosome 19q Deletion
Chromosome 1p Deletion Chromosome 1p36 Deletion Syndrome
Chromosome 1q Deletion Chromosome 1q41-Q42 Deletion Syndrome
Chromosome 20p Deletion Chromosome 20q Deletion
Chromosome 21q Deletion Chromosome 22q Deletion
Chromosome 2p Deletion Chromosome 2q Deletion
Chromosome 3p Deletion Chromosome 3q Deletion
Chromosome 4p Deletion Chromosome 4q Deletion
Chromosome 5q Deletion Chromosome 6p Deletion
Chromosome 6q Deletion Chromosome 7p Deletion
Chromosome 7q Deletion Chromosome 8p Deletion
Chromosome 8p23.1 Deletion Chromosome 8q Deletion
chromosome 9q deletion Chromosome Xp Deletion
Chromosome Xp22 Deletion Syndrome Chromosome Xq Deletion
Chromosome Xq28 Deletion Syndrome Chromosome 1p32-P31 Deletion Syndrome
Chromosome 1q43-Q44 Deletion Syndrome Chromosome 2p16.1-P15 Deletion Syndrome
Chromosome 2p12-P11.2 Deletion Syndrome Chromosome 2q31.2 Deletion Syndrome
Chromosome 3q13.31 Deletion Syndrome Chromosome 4q21 Deletion Syndrome
Chromosome 6q11-Q14 Deletion Syndrome Chromosome 6q25-Q25 Deletion Syndrome
Chromosome 8q21.11 Deletion Syndrome Chromosome Xp21 Deletion Syndrome
Chromosome Xp11.3 Deletion Syndrome

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1kleefstra syndrome10.4
2infantile myofibromatosis10.2
3leukemia10.1
4splenomegaly10.1
5trisomy 2210.1
6nevoid basal cell carcinoma syndrome10.1PTCH1
7skin benign neoplasm10.0PTCH1, XPA
8xeroderma pigmentosum10.0XPA, PTCH1
9adenocarcinoma10.0PTCH1, XPA
10basal cell carcinoma10.0PTCH1, XPA
11tongue squamous cell carcinoma9.9XPA, 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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Chromosome 9q Deletion

Drug clinical trials:

Search ClinicalTrials for Chromosome 9q Deletion

Search NIH Clinical Center for Chromosome 9q Deletion

Search CenterWatch 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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38MGI
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MGI Mouse Phenotypes related to Chromosome 9q Deletion:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3XPA, PTCH1
2MP:00053719.3XPA, PTCH1
3MP:00020069.3XPA, PTCH1
4MP:00053829.2XPA, PTCH1
5MP:00053919.2PTCH1, XPA
6MP:00053699.1XPA, PTCH1
7MP:00107719.1XPA, PTCH1
8MP:00053799.0XPA, PTCH1
9MP:00053908.8XPA, PTCH1

Publications for Chromosome 9q Deletion

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53PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Chromosome 9q Deletion:

1 (show all 15)
id Gene Name 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chromosome 9q Deletion

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Pathways for genes affiliated with Chromosome 9q Deletion

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Compounds for genes affiliated with Chromosome 9q Deletion

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46Novoseek, 25HMDB
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Compounds related to Chromosome 9q Deletion according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc46 2510.1XPA, PTCH1

GO Terms for genes affiliated with Chromosome 9q Deletion

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17Gene Ontology
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Cellular components related to Chromosome 9q Deletion according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi apparatusGO:0057949.1XPA, PTCH1

Products for genes affiliated with Chromosome 9q Deletion

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  • Antibodies
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Sources for Chromosome 9q Deletion

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet