MCID: RNG018
MIFTS: 31

Ring Chromosome 22

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 22

Summaries for Ring Chromosome 22

NIH Rare Diseases : 54 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, eye and brain, and related phenotypes are seizures and developmental regression

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:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
2 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
3 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
4 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
5 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
6 thick vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0012471
7 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
8 thick eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0000574
9 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
10 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
11 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
12 lymphedema 60 33 frequent (33%) Frequent (79-30%) HP:0001004
13 growth delay 60 33 frequent (33%) Frequent (79-30%) HP:0001510
14 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
15 impaired pain sensation 60 33 frequent (33%) Frequent (79-30%) HP:0007328
16 protruding tongue 60 33 frequent (33%) Frequent (79-30%) HP:0010808
17 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
18 bulbous nose 60 33 frequent (33%) Frequent (79-30%) HP:0000414
19 azoospermia 60 33 frequent (33%) Frequent (79-30%) HP:0000027
20 pointed chin 60 33 frequent (33%) Frequent (79-30%) HP:0000307
21 midface retrusion 60 33 frequent (33%) Frequent (79-30%) HP:0011800
22 large hands 60 33 frequent (33%) Frequent (79-30%) HP:0001176
23 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
24 autistic behavior 60 33 frequent (33%) Frequent (79-30%) HP:0000729
25 2-3 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0004691
26 inappropriate behavior 60 33 frequent (33%) Frequent (79-30%) HP:0000719
27 neurofibromas 60 33 frequent (33%) Frequent (79-30%) HP:0001067
28 wide nasal base 60 33 frequent (33%) Frequent (79-30%) HP:0012810
29 toenail dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0100797
30 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
31 absent septum pellucidum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001331
32 pleural effusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0002202
33 edema 60 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 30

Anatomical Context for Ring Chromosome 22

MalaCards organs/tissues related to Ring Chromosome 22:

42
Tongue, Eye, Brain, Skin

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
Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22. ( 25114695 )
2014
6
Prenatal diagnosis of complete ring chromosome 22 without phenotypical abnormalities. ( 25286802 )
2014
7
Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients. ( 23635516 )
2013
8
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
9
Ring chromosome 22: a review of the literature and first report from India. ( 24052724 )
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
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
16
Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22. ( 15372517 )
2004
17
Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction. ( 12533811 )
2003
18
Five new subjects with ring chromosome 22. ( 12752574 )
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
Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. ( 7668296 )
1995
26
Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22. ( 8558556 )
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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