MCID: 9Q2001

9q22.3 Microdeletion

Categories: Bone diseases, Cancer diseases

Aliases & Classifications for 9q22.3 Microdeletion

MalaCards integrated aliases for 9q22.3 Microdeletion:

Name: 9q22.3 Microdeletion 25 29 72
Microdeletion 9q22.3 Syndrome 25
9q22 Deletion Syndrome 25
9q22.3 Deletion 25


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UMLS 72 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. Many individuals with a 9q22.3 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. In some people, the delays are temporary and improve in childhood. More severely affected individuals have permanent developmental disabilities along with intellectual impairment and learning problems. Rarely, seizures have been reported in people with a 9q22.3 microdeletion. About 20 percent of people with a 9q22.3 microdeletion experience overgrowth (macrosomia), which results in increased height and weight compared to unaffected peers. The macrosomia often begins before birth and continues into childhood. Other physical changes that are sometimes associated with a 9q22.3 microdeletion include the premature fusion of certain bones in the skull (metopic craniosynostosis) and a buildup of fluid in the brain (hydrocephalus). Affected individuals can also have distinctive facial features such as a prominent forehead with vertical skin creases, upward- or downward-slanting eyes, a short nose, and a long space between the nose and upper lip (philtrum). 9q22.3 microdeletions also cause the characteristic features of Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome). This genetic condition affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Most people with this condition also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors, which can cause facial swelling and tooth displacement. Other types of tumors that occur in some people with Gorlin syndrome include a form of childhood brain cancer called a medulloblastoma and a type of benign tumor called a fibroma that occurs in the heart or in a woman's ovaries. Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull.

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). Affiliated tissues include brain, heart and ovary.

Related Diseases for 9q22.3 Microdeletion

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

MalaCards organs/tissues related to 9q22.3 Microdeletion:

Brain, Heart, Ovary, Skin, Bone, Eye

Publications for 9q22.3 Microdeletion

Articles related to 9q22.3 Microdeletion:

# Title Authors PMID Year
Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature. 38
30371535 2018
9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient. 38
29057423 2018
Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies. 38
25706929 2015
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. 38
24124115 2013
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. 38
23169491 2013
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. 38
22190277 2012
9q22.3 Microdeletion 38
21850767 2011
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. 38
16570072 2006

Variations for 9q22.3 Microdeletion

Cosmic variations for 9q22.3 Microdeletion:

9 (show top 50) (show all 949)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM45074 TP53 skin,arm,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 4
2 COSM45774 TP53 skin,arm,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 4
3 COSM12296 TP53 skin,lip,carcinoma,basal cell carcinoma c.292C>T p.P98S 17:7676077-7676077 4
4 COSM44126 TP53 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 4
5 COSM43583 TP53 skin,eye,carcinoma,basal cell carcinoma c.425C>T p.P142L 17:7675187-7675187 4
6 COSM17596 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.863G>A p.G288D 9:95480472-95480472 4
7 COSM17597 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1977G>A p.Q659Q 9:95469024-95469024 4
8 COSM17456 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.1160G>A p.W387* 9:95479055-95479055 4
9 COSM17480 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.1847G>A p.S616N 9:95469813-95469813 4
10 COSM17602 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1922C>T p.P641L 9:95469079-95469079 4
11 COSM144245 PTCH1 skin,eye,carcinoma,basal cell carcinoma c.1585A>T p.K529* 9:95476776-95476776 4
12 COSM17548 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.3499G>T p.G1167W 9:95449891-95449891 4
13 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 3
14 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 3
15 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 3
16 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 3
17 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 3
18 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 3
19 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 3
20 COSM6982918 YES1 skin,eye,carcinoma,NS c.851G>A p.G284E 18:743289-743289 3
21 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 3
22 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
23 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
24 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
25 COSM4736805 TSC1 skin,eye,carcinoma,NS c.2065C>T p.R689C 9:132903794-132903794 3
26 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 3
27 COSM6971614 TRAF7 skin,eye,carcinoma,NS c.349G>A p.E117K 16:2171264-2171264 3
28 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 3
29 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 3
30 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 3
31 COSM10660 TP53 skin,hand,carcinoma,NS c.818G>A p.R273H 17:7673802-7673802 3
32 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 3
33 COSM43751 TP53 skin,hand,carcinoma,NS c.673-1G>A p.? 17:7674291-7674291 3
34 COSM10988 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 3
35 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 3
36 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 3
37 COSM44225 TP53 skin,arm,carcinoma,NS c.859G>A p.E287K 17:7673761-7673761 3
38 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 3
39 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 3
40 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 3
41 COSM10656 TP53 skin,arm,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 3
42 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 3
43 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 3
44 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 3
45 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 3
46 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 3
47 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 3
48 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 3
49 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 3
50 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 3

Copy number variations for 9q22.3 Microdeletion from CNVD:

# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 256423 9 93000000 101600000 Microdeletion TGFBR1 9q22.3 microdeletion syndrome

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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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