MCID: 9Q2001
MIFTS: 12

9q22.3 Microdeletion

Aliases & Classifications for 9q22.3 Microdeletion

MalaCards integrated aliases for 9q22.3 Microdeletion:

Name: 9q22.3 Microdeletion 24 25 29 73
Microdeletion 9q22.3 Syndrome 25
9q22 Deletion Syndrome 25
9q22.3 Deletion 25

Characteristics:

GeneReviews:

24
Penetrance It is expected that 9q22.3 microdeletion is fully penetrant for phenotype, but with variable expressivity. no unaffected individuals with this microdeletion have been reported to date...

External Ids:

UMLS 73 C3711390

Summaries for 9q22.3 Microdeletion

Genetics Home Reference : 25 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 29

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
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. ( 23169491 )
2013
4
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
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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