R22
MCID: RNG018
MIFTS: 32

Ring Chromosome 22 (R22)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 22

Summaries for Ring Chromosome 22

NIH Rare Diseases : 53 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 chromosome 22 ring, is related to cerebral artery occlusion and neurofibromatosis, type ii. An important gene associated with Ring Chromosome 22 is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3). Affiliated tissues include tongue, brain and skin, and related phenotypes are agenesis of corpus callosum and seizures

Related Diseases for Ring Chromosome 22

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:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
4 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
5 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
6 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
7 thick vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0012471
8 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
9 thick eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0000574
10 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
11 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
12 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
13 lymphedema 59 32 frequent (33%) Frequent (79-30%) HP:0001004
14 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
15 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
16 impaired pain sensation 59 32 frequent (33%) Frequent (79-30%) HP:0007328
17 protruding tongue 59 32 frequent (33%) Frequent (79-30%) HP:0010808
18 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
19 bulbous nose 59 32 frequent (33%) Frequent (79-30%) HP:0000414
20 azoospermia 59 32 frequent (33%) Frequent (79-30%) HP:0000027
21 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
22 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
23 absent septum pellucidum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001331
24 large hands 59 32 frequent (33%) Frequent (79-30%) HP:0001176
25 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
26 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
27 pleural effusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0002202
28 2-3 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0004691
29 inappropriate behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000719
30 neurofibromas 59 32 frequent (33%) Frequent (79-30%) HP:0001067
31 wide nasal base 59 32 frequent (33%) Frequent (79-30%) HP:0012810
32 toenail dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100797
33 edema 59 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 Chromosome 22 Ring 29

Anatomical Context for Ring Chromosome 22

MalaCards organs/tissues related to Ring Chromosome 22:

41
Tongue, Brain, Skin, Eye

Publications for Ring Chromosome 22

Articles related to Ring Chromosome 22:

(show all 38)
# Title Authors Year
1
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome). ( 29378768 )
2018
2
Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22. ( 30144655 )
2018
3
Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22. ( 27734605 )
2017
4
[Genetic diagnosis and analysis for two cases of ring chromosome 22]. ( 27455005 )
2016
5
Prenatal diagnosis of complete ring chromosome 22 without phenotypical abnormalities. ( 25286802 )
2014
6
Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22. ( 25114695 )
2014
7
Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients. ( 23635516 )
2013
8
Ring Chromosome 22: A Review of the Literature and First Report from India. ( 24052724 )
2012
9
Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma. ( 21175598 )
2012
10
Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion. ( 19940762 )
2010
11
Phenotypic correlations in a patient with ring chromosome 22. ( 21031059 )
2010
12
Pathogenesis of vestibular schwannoma in ring chromosome 22. ( 19772601 )
2009
13
A case with a ring chromosome 22. ( 18664089 )
2008
14
Molecular and phenotypic characterization of ring chromosome 22. ( 16059935 )
2005
15
Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22. ( 15372517 )
2004
16
A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, fornix and septum pellucidum. ( 15305353 )
2004
17
Five new subjects with ring chromosome 22. ( 12752574 )
2003
18
Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction. ( 12533811 )
2003
19
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. ( 11950869 )
2002
20
Ring chromosome 22 and autism: report and review. ( 10706359 )
2000
21
Ring chromosome 22 resulting in partial monosomy in a mentally retarded boy. ( 10487083 )
1999
22
March 1997--4 year old girl with ring chromosome 22 and brain tumor. ( 9217983 )
1997
23
Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2. ( 9225971 )
1997
24
Ring chromosome 22 and mood disorders. ( 8930062 )
1996
25
Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22. ( 8558556 )
1995
26
Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. ( 7668296 )
1995
27
Multiple meningiomas in a patient with constitutional ring chromosome 22. ( 8213904 )
1993
28
Ring chromosome 22 and neurofibromatosis. ( 1424240 )
1992
29
Ring chromosome 22: a case report. ( 1721941 )
1991
30
Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome. ( 2260575 )
1990
31
Ring chromosome 22 46,XX,r(22)(p11.2----q13.3) presenting with leukemoid reaction. ( 3180509 )
1988
32
Deleted ring chromosome 22 in a mentally retarded boy. ( 2872982 )
1986
33
Multifocal meningiomas in a patient with a constitutional ring chromosome 22. ( 3712397 )
1986
34
Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother. ( 437787 )
1979
35
Phenotypic variation in two patients with a ring chromosome 22. ( 519902 )
1979
36
Phenotypic correlations in patients with ring chromosome 22. ( 912941 )
1977
37
A profoundly mentally handicapped woman with a ring chromosome 22. ( 1214291 )
1975
38
Monozygotic twins with ring chromosome 22. ( 4697858 )
1973

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

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74 UMLS via Orphanet
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