9q22.3 Microdeletion disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

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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).

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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
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	congenital hydrocephalus	10.1
8	craniosynostosis	10.1
9	leiomyoma	10.1

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

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Symptoms & Phenotypes for 9q22.3 Microdeletion

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Drugs & Therapeutics for 9q22.3 Microdeletion

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

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Genetic Tests for 9q22.3 Microdeletion

Genetic tests related to 9q22.3 Microdeletion:

#	Genetic test	Affiliating Genes
1	9q22.3 Microdeletion ³⁰

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Anatomical Context for 9q22.3 Microdeletion

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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 )	Kieny A...Lipsker D	2018
2	Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature. ( 30371535 )	Cayrol J...Heloury Y	2018
3	Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies. ( 25706929 )	Reichert SC...Martinez-Poyer J	2015
4	Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. ( 23169491 )	Isidor B...Le Caignec C	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 )	Garavelli L...Superti-Furga A	2013
6	Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. ( 22190277 )	Muller EA...Hudgins L	2012
7	Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. ( 16570072 )	Redon R...Colleaux L	2006

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Genes for 9q22.3 Microdeletion

Genes related to 9q22.3 Microdeletion (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PTCH1	Patched 1	Protein Coding	17.02	GeneCards inferred via : Publications (show sections)

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Variations for 9q22.3 Microdeletion

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Expression for 9q22.3 Microdeletion

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

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Pathways for 9q22.3 Microdeletion

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GO Terms for 9q22.3 Microdeletion

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Sources for 9q22.3 Microdeletion

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

MCID: 9Q2001 MIFTS: 12	9q22.3 Microdeletion
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