MCID: 9Q2001
MIFTS: 12

9q22.3 Microdeletion

Aliases & Classifications for 9q22.3 Microdeletion

MalaCards integrated aliases for 9q22.3 Microdeletion:

Name: 9q22.3 Microdeletion 23 24 28 69
Microdeletion 9q22.3 Syndrome 24
9q22 Deletion Syndrome 24
9q22.3 Deletion 24

External Ids:

UMLS 69 C3711390

Summaries for 9q22.3 Microdeletion

Genetics Home Reference : 24 9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome.

MalaCards based summary : 9q22.3 Microdeletion, also known as microdeletion 9q22.3 syndrome, is related to monosomy 9q22.3 and wilms tumor 5. An important gene associated with 9q22.3 Microdeletion is PTCH1 (Patched 1).

GeneReviews: NBK61984

Related Diseases for 9q22.3 Microdeletion

Diseases related to 9q22.3 Microdeletion via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 monosomy 9q22.3 11.1
2 wilms tumor 5 10.1
3 wilms tumor 6 10.1
4 basal cell carcinoma 1 9.9
5 craniosynostosis 9.9
6 leiomyoma 9.9
7 basal cell carcinoma 9.9
8 basal cell carcinoma, multiple 9.9

Graphical network of the top 20 diseases related to 9q22.3 Microdeletion:



Diseases related to 9q22.3 Microdeletion

Symptoms & Phenotypes for 9q22.3 Microdeletion

Drugs & Therapeutics for 9q22.3 Microdeletion

Search Clinical Trials , NIH Clinical Center for 9q22.3 Microdeletion

Genetic Tests for 9q22.3 Microdeletion

Genetic tests related to 9q22.3 Microdeletion:

# Genetic test Affiliating Genes
1 9q22.3 Microdeletion 28

Anatomical Context for 9q22.3 Microdeletion

Publications for 9q22.3 Microdeletion

Articles related to 9q22.3 Microdeletion:

# Title Authors Year
1
9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient. ( 29057423 )
2018
2
Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies. ( 25706929 )
2015
3
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci. ( 24124115 )
2013
4
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. ( 23169491 )
2013
5
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. ( 16570072 )
2006
6
9q22.3 Microdeletion ( 21850767 )
1993

Variations for 9q22.3 Microdeletion

Expression for 9q22.3 Microdeletion

Search GEO for disease gene expression data for 9q22.3 Microdeletion.

Pathways for 9q22.3 Microdeletion

GO Terms for 9q22.3 Microdeletion

Sources for 9q22.3 Microdeletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
37 LifeMap
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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