MCID: 9Q2001
MIFTS: 12

9q22.3 Microdeletion

Aliases & Classifications for 9q22.3 Microdeletion

MalaCards integrated aliases for 9q22.3 Microdeletion:

Name: 9q22.3 Microdeletion 26 30 74
Microdeletion 9q22.3 Syndrome 26
9q22 Deletion Syndrome 26
9q22.3 Deletion 26

External Ids:

UMLS 74 C3711390

Summaries for 9q22.3 Microdeletion

Genetics Home Reference : 26 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).

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 11.3
2 wilms tumor 5 10.3
3 wilms tumor 6 10.3
4 trigonocephaly 1 10.1
5 trigonocephaly 2 10.1
6 hydrocephalus 10.1
7 craniosynostosis 10.1
8 leiomyoma 10.1

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 30

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
Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature. ( 30371535 )
2018
3
Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies. ( 25706929 )
2015
4
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. ( 23169491 )
2013
5
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
6
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. ( 16570072 )
2006
7
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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