MCID: RNG018
MIFTS: 31

Ring Chromosome 22

Categories: Rare diseases, Fetal diseases, Neuronal 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 cerebritis and cerebral artery occlusion. An important gene associated with Ring Chromosome 22 is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3). Affiliated tissues include tongue, brain and eye, and related phenotypes are azoospermia and microcephaly

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

Publications for Ring Chromosome 22

Articles related to Ring Chromosome 22:

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