R22
MCID: RNG018
MIFTS: 30

Ring Chromosome 22 (R22)

Categories: Ear diseases, Eye diseases, Fetal diseases, Immune diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Ring Chromosome 22

MalaCards integrated aliases for Ring Chromosome 22:

Name: Ring Chromosome 22 20 58 29
Ring Chromosome 22 Syndrome 58 70
Chromosome 22 Ring 20 70
Ring 22 20 58
R(22) Syndrome 58
R22 20

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Ring Chromosome 22

GARD : 20 Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality, a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.

MalaCards based summary : Ring Chromosome 22, also known as ring chromosome 22 syndrome, is related to ring chromosome and phelan-mcdermid syndrome. An important gene associated with Ring Chromosome 22 is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3). Affiliated tissues include eye, tongue and heart, and related phenotypes are developmental regression and global developmental delay

Related Diseases for Ring Chromosome 22

Diseases in the Ring Chromosome family:

Ring Chromosome 14 Syndrome Ring Chromosome 1
Ring Chromosome 10 Ring Chromosome 11
Ring Chromosome 12 Ring Chromosome 13
Ring Chromosome 15 Ring Chromosome 16
Ring Chromosome 17 Ring Chromosome 18
Ring Chromosome 19 Ring Chromosome 2
Ring Chromosome 20 Ring Chromosome 21
Ring Chromosome 22 Ring Chromosome 3
Ring Chromosome 4 Ring Chromosome 5
Ring Chromosome 6 Ring Chromosome 7
Ring Chromosome 8 Ring Chromosome 9
Ring Chromosome Y Syndrome

Diseases related to Ring Chromosome 22 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 10.7
2 phelan-mcdermid syndrome 10.4
3 hypotonia 10.3
4 neurofibromatosis 10.2
5 meningioma, familial 10.2
6 neurofibromatosis, type ii 10.1
7 hypertelorism 10.1
8 alacrima, achalasia, and mental retardation syndrome 10.1
9 microcephaly 10.1
10 atypical teratoid rhabdoid tumor 10.1
11 rhabdoid cancer 10.1
12 neurofibroma 10.1
13 rapidly involuting congenital hemangioma 9.9
14 cerebral artery occlusion 9.9
15 vaccinia 9.9
16 azoospermia 9.9
17 cat eye syndrome 9.9
18 epicanthus 9.9
19 opitz gbbb syndrome, type ii 9.9
20 chromosome 2q35 duplication syndrome 9.9
21 digeorge syndrome 9.9
22 torticollis 9.9
23 autism 9.9
24 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
25 metachromatic leukodystrophy 9.9
26 major affective disorder 8 9.9
27 major affective disorder 9 9.9
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
29 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.9
30 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
31 hereditary lymphedema i 9.9
32 intracranial meningioma 9.9
33 hydrocephalus 9.9
34 spinal meningioma 9.9
35 bronchopneumonia 9.9
36 acoustic neuroma 9.9
37 ventricular septal defect 9.9
38 heart septal defect 9.9
39 neurilemmoma 9.9
40 teratoma 9.9
41 bipolar disorder 9.9
42 mood disorder 9.9
43 seminoma 9.9
44 secretory meningioma 9.9
45 lymphoplasmacyte-rich meningioma 9.9
46 47,xyy 9.9
47 polymicrogyria 9.9
48 mosaic monosomy 22 9.9
49 spastic paraparesis 9.9
50 monosomy 22 9.9

Graphical network of the top 20 diseases related to Ring Chromosome 22:



Diseases related to Ring Chromosome 22

Symptoms & Phenotypes for Ring Chromosome 22

Human phenotypes related to Ring Chromosome 22:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
4 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
5 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
8 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
9 lymphedema 58 31 frequent (33%) Frequent (79-30%) HP:0001004
10 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
11 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
12 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
13 impaired pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0007328
14 protruding tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010808
15 azoospermia 58 31 frequent (33%) Frequent (79-30%) HP:0000027
16 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
17 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
18 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
19 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
20 large hands 58 31 frequent (33%) Frequent (79-30%) HP:0001176
21 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
22 neurofibromas 58 31 frequent (33%) Frequent (79-30%) HP:0001067
23 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
24 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
25 toenail dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100797
26 2-3 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0004691
27 inappropriate behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000719
28 wide nasal base 58 31 frequent (33%) Frequent (79-30%) HP:0012810
29 seizure 31 frequent (33%) HP:0001250
30 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
31 absent septum pellucidum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001331
32 pleural effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0002202
33 seizures 58 Frequent (79-30%)
34 edema 58 Frequent (79-30%)

Drugs & Therapeutics for Ring Chromosome 22

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 22

Genetic Tests for Ring Chromosome 22

Genetic tests related to Ring Chromosome 22:

# Genetic test Affiliating Genes
1 Ring Chromosome 22 29

Anatomical Context for Ring Chromosome 22

MalaCards organs/tissues related to Ring Chromosome 22:

40
Eye, Tongue, Heart

Publications for Ring Chromosome 22

Articles related to Ring Chromosome 22:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Bilateral Vestibular Schwannomas in a Patient with Ring Chromosome 22: Case Report and Review of the Literature. 61
33550291 2021
2
MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism. 61
30647996 2019
3
Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22. 61
30144655 2018
4
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome). 61
29378768 2018
5
Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22. 61
27734605 2017
6
[Genetic diagnosis and analysis for two cases of ring chromosome 22]. 61
27455005 2016
7
Prenatal diagnosis of complete ring chromosome 22 without phenotypical abnormalities. 61
25286802 2014
8
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion. 61
24700634 2014
9
Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22. 61
25114695 2014
10
[Ring chromosome 22 in a case]. 61
23927807 2013
11
Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients. 61
23635516 2013
12
Ring chromosome 22: a review of the literature and first report from India. 61
24052724 2012
13
Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma. 61
21175598 2012
14
Azoospermia and paternal autosomal ring chromosomes: case report and literature review. 61
21843971 2011
15
Azoospermia in a man with a constitutional ring 22 chromosome. 61
20709628 2010
16
Phenotypic correlations in a patient with ring chromosome 22. 61
21031059 2010
17
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. 61
20186804 2010
18
Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion. 61
19940762 2010
19
Prenatal diagnosis of mosaic ring 22 duplication/deletion with terminal 22q13 deletion due to abnormal first trimester screening and choroid plexus cyst detected on ultrasound. 61
20149051 2009
20
Pathogenesis of vestibular schwannoma in ring chromosome 22. 61
19772601 2009
21
A case with a ring chromosome 22. 61
18664089 2008
22
Autistic disorder and 22q11.2 duplication. 61
17455106 2007
23
Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion. 61
17099929 2006
24
Molecular and phenotypic characterization of ring chromosome 22. 61
16059935 2005
25
FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22). 61
15756300 2005
26
Phelan-McDermid Syndrome 61
20301377 2005
27
Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22. 61
15372517 2004
28
A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, fornix and septum pellucidum. 61
15305353 2004
29
Five new subjects with ring chromosome 22. 61
12752574 2003
30
Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction. 61
12533811 2003
31
Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome. 61
11950869 2002
32
Ring chromosome 22 and autism: report and review. 61
10706359 2000
33
Ring chromosome 22 resulting in partial monosomy in a mentally retarded boy. 61
10487083 1999
34
Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation. 61
10204853 1999
35
March 1997--4 year old girl with ring chromosome 22 and brain tumor. 61
9217983 1997
36
Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2. 61
9225971 1997
37
Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. 61
9004128 1996
38
Ring chromosome 22 and mood disorders. 61
8930062 1996
39
Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22. 61
8558556 1995
40
Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. 61
7668296 1995
41
Asymmetry and skin pigmentary anomalies in chromosome mosaicism. 61
7815438 1994
42
Cytogenetic findings in a new case of adenoid cystic carcinoma arising in sphenoidal sinus. 61
8055481 1994
43
Multiple meningiomas in a patient with constitutional ring chromosome 22. 61
8213904 1993
44
Ring chromosome 22 and neurofibromatosis. 61
1424240 1992
45
Ring chromosome 22: a case report. 61
1721941 1991
46
[Ring chromosome 22. Description of a new case (1)]. 61
1772175 1991
47
Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome. 61
2260575 1990
48
Ring chromosome 22 46,XX,r(22)(p11.2----q13.3) presenting with leukemoid reaction. 61
3180509 1988
49
Chromosome studies in IgA-deficient patients. 61
3652494 1987
50
[Ring chromosome 22 associated with right polycystic kidney and a left junction syndrome]. 61
3619316 1987

Variations for Ring Chromosome 22

Expression for Ring Chromosome 22

Search GEO for disease gene expression data for Ring Chromosome 22.

Pathways for Ring Chromosome 22

GO Terms for Ring Chromosome 22

Sources for Ring Chromosome 22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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