MCID: 9Q2001
MIFTS: 27

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 71
Microdeletion 9q22.3 Syndrome 25
9q22 Deletion Syndrome 25
9q22.3 Deletion 25

Classifications:



External Ids:

UMLS 71 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 overgrowth syndrome. An important gene associated with 9q22.3 Microdeletion is PTCH1 (Patched 1). Affiliated tissues include bone, eye and brain.

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:

40
Bone, Eye, Brain, Heart, Skin, Ovary

Publications for 9q22.3 Microdeletion

Articles related to 9q22.3 Microdeletion:

(show all 11)
# Title Authors PMID Year
1
A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter. 61
32028043 2020
2
Genetic investigation of patients with tall stature. 61
31751304 2020
3
Unexpected phenotype in a frameshift mutation of PTCH1. 61
31578813 2020
4
Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature. 61
30371535 2019
5
9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient. 61
29057423 2018
6
Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies. 61
25706929 2015
7
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. 61
24124115 2013
8
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. 61
23169491 2013
9
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. 61
22190277 2012
10
9q22.3 Microdeletion 61
21850767 2011
11
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. 61
16570072 2006

Variations for 9q22.3 Microdeletion

Cosmic variations for 9q22.3 Microdeletion:

9 (show top 50) (show all 3950)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87963219 TP53 skin,lip,carcinoma,basal cell carcinoma c.292C>T p.P98S 17:7676077-7676077 4
2 COSM88408340 TP53 skin,arm,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 4
3 COSM87932688 TP53 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 4
4 COSM87898343 TP53 skin,arm,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 4
5 COSM87905558 TP53 skin,eye,carcinoma,basal cell carcinoma c.425C>T p.P142L 17:7675187-7675187 4
6 COSM84674285 SMO skin,arm,carcinoma,basal cell carcinoma c.1604G>T p.W535L 7:129210500-129210500 4
7 COSM90854453 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1922C>T p.P641L 9:95469079-95469079 4
8 COSM90836104 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.1093C>T p.Q365* 9:95479122-95479122 4
9 COSM90853331 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.3499G>T p.G1167W 9:95449891-95449891 4
10 COSM90854292 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.1847G>A p.S616N 9:95469813-95469813 4
11 COSM90851307 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.863G>A p.G288D 9:95480472-95480472 4
12 COSM90840285 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.1160G>A p.W387* 9:95479055-95479055 4
13 COSM90852565 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1977G>A p.Q659= 9:95469024-95469024 4
14 COSM90851684 PTCH1 skin,eye,carcinoma,basal cell carcinoma c.1585A>T p.K529* 9:95476776-95476776 4
15 COSM144087146 skin,arm,carcinoma,basal cell carcinoma c.245C>T p.S82F 17:7674241-7674241 4
16 COSM110721401 skin,arm,carcinoma,basal cell carcinoma c.895C>T p.Q299* 9:95479122-95479122 4
17 COSM111787839 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 4
18 COSM143161891 skin,eye,carcinoma,basal cell carcinoma c.-53C>T p.? 17:7675187-7675187 4
19 COSM106081615 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 4
20 COSM106489100 skin,arm,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 4
21 COSM108468785 skin,arm,carcinoma,basal cell carcinoma c.707G>A p.W236* 9:95479055-95479055 4
22 COSM110739922 skin,hand,carcinoma,basal cell carcinoma c.1724C>T p.P575L 9:95469079-95469079 4
23 COSM111758565 skin,arm,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 4
24 COSM103474500 skin,hand,carcinoma,basal cell carcinoma c.1524G>A p.Q508= 9:95469024-95469024 4
25 COSM122734234 skin,arm,carcinoma,basal cell carcinoma c.326C>T p.S109F 17:7674241-7674241 4
26 COSM110736919 skin,eye,carcinoma,basal cell carcinoma c.1387A>T p.K463* 9:95476776-95476776 4
27 COSM143180377 skin,eye,carcinoma,basal cell carcinoma c.30G>A p.M10I 17:7675105-7675105 4
28 COSM145017657 skin,lip,carcinoma,basal cell carcinoma c.626G>A p.R209Q 17:7674220-7674220 4
29 COSM144306811 skin,arm,carcinoma,basal cell carcinoma c.422C>G p.P141R 17:7673721-7673721 4
30 COSM144433421 skin,arm,carcinoma,basal cell carcinoma c.422C>G p.P141R 17:7673721-7673721 4
31 COSM142566102 skin,eye,carcinoma,basal cell carcinoma c.308C>T p.P103L 17:7675187-7675187 4
32 COSM105620345 skin,arm,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 4
33 COSM144087102 skin,arm,carcinoma,basal cell carcinoma c.352T>G p.C118G 17:7673791-7673791 4
34 COSM122277530 skin,eye,carcinoma,basal cell carcinoma c.29C>T p.P10L 17:7675187-7675187 4
35 COSM98559054 skin,hand,carcinoma,basal cell carcinoma c.1919C>T p.P640L 9:95469079-95469079 4
36 COSM112259390 skin,eye,carcinoma,basal cell carcinoma c.425C>T p.P142L 17:7675187-7675187 4
37 COSM98555349 skin,eye,carcinoma,basal cell carcinoma c.1582A>T p.K528* 9:95476776-95476776 4
38 COSM144315215 skin,eye,carcinoma,basal cell carcinoma c.308C>T p.P103L 17:7675187-7675187 4
39 COSM142616860 skin,lip,carcinoma,basal cell carcinoma c.175C>T p.P59S 17:7676077-7676077 4
40 COSM143969746 skin,eye,carcinoma,basal cell carcinoma c.30G>A p.M10I 17:7675105-7675105 4
41 COSM144332541 skin,eye,carcinoma,basal cell carcinoma c.390G>A p.M130I 17:7675105-7675105 4
42 COSM142589741 skin,eye,carcinoma,basal cell carcinoma c.390G>A p.M130I 17:7675105-7675105 4
43 COSM108484684 skin,hand,carcinoma,basal cell carcinoma c.1469C>T p.P490L 9:95469079-95469079 4
44 COSM112253622 skin,lip,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 4
45 COSM121875973 skin,arm,carcinoma,basal cell carcinoma c.433T>G p.C145G 17:7673791-7673791 4
46 COSM144310197 skin,arm,carcinoma,basal cell carcinoma c.712T>G p.C238G 17:7673791-7673791 4
47 COSM103477254 skin,hand,carcinoma,basal cell carcinoma c.1469C>T p.P490L 9:95469079-95469079 4
48 COSM122271632 skin,arm,carcinoma,basal cell carcinoma c.326C>T p.S109F 17:7674241-7674241 4
49 COSM110711771 skin,lip,carcinoma,basal cell carcinoma c.352C>T p.Q118* 9:95485719-95485719 4
50 COSM106824708 skin,lip,carcinoma,basal cell carcinoma c.1993C>T p.Q665* 9:95467230-95467230 4

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

7
# CNVD ID Chromosome 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

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