R20
MCID: RNG016
MIFTS: 26

Ring Chromosome 20 (R20)

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

Aliases & Classifications for Ring Chromosome 20

MalaCards integrated aliases for Ring Chromosome 20:

Name: Ring Chromosome 20 20 43 58
Ring Chromosome 20 Syndrome 20 43 58 36 29
Chromosome 20 Ring 20 70
Ring 20 20 58
Ring Chromosome 20 Epilepsy Syndrome 43
Ring 20 Syndrome 43
R(20) Syndrome 43
R20 20

Characteristics:

Orphanet epidemiological data:

58
ring chromosome 20 syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

KEGG 36 H01831
MESH via Orphanet 45 C535369
ICD10 via Orphanet 33 Q93.2
UMLS via Orphanet 71 C0265482 C2930886
Orphanet 58 ORPHA1444
UMLS 70 C2930886

Summaries for Ring Chromosome 20

MedlinePlus Genetics : 43 Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain. The most common feature of this condition is recurrent seizures (epilepsy) in childhood. The seizures may occur during the day or at night during sleep. They are described as partial seizures because they affect only one area of the brain, a region called the frontal lobe. In many cases, the seizures are complex and resistant to treatment with anti-epileptic drugs. Prolonged seizure episodes known as non-convulsive status epilepticus also appear to be characteristic of ring chromosome 20 syndrome. These episodes involve confusion and behavioral changes.Most people with ring chromosome 20 syndrome also have some degree of intellectual disability and behavioral difficulties. Although these problems can appear either before or after the onset of epilepsy, they tend to worsen after seizures develop. Additional features of this condition can include slow growth and short stature, a small head (microcephaly), and subtle differences in facial features. Major birth defects are rarely seen with ring chromosome 20 syndrome.

MalaCards based summary : Ring Chromosome 20, also known as ring chromosome 20 syndrome, is related to muscular dystrophy-dystroglycanopathy , type c, 7 and ring chromosome. An important gene associated with Ring Chromosome 20 is CTSA (Cathepsin A). The drugs Progesterone and Hormone Antagonists have been mentioned in the context of this disorder.

GARD : 20 Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head ( microcephaly ), and characteristic facial features. Ring chromosome 20 is caused by an abnormal chromosome known as a ring chromosome 20 or r(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. Ring chromosome 20 is usually not inherited. It almost always occurs by chance during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Treatment for ring chromosome 20 is focused on management of seizures and accommodations for learning.

KEGG : 36 Ring chromosome 20 syndrome is a chromosomal disorder that is characterized by mild to moderate intellectual disability and epilepsy, in the absence of significant diagnostic dysmorphic features. In most patients, seizures are drug resistant and characterized by prolonged nonconvulsive status epilepticus (NCSE). Psychomotor development may be normal or mildly delayed until epilepsy onset. The distinctive electroencephalography (EEG) have been described in the syndrome. They suggest the involvement of the frontal lobes networks in the generation of ictal and interictal activities.

Wikipedia : 73 Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality... more...

Related Diseases for Ring Chromosome 20

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 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 7 11.1
2 ring chromosome 10.8
3 status epilepticus 10.5
4 epilepsy 10.5
5 seizure disorder 10.4
6 alacrima, achalasia, and mental retardation syndrome 10.3
7 encephalopathy 10.2
8 microcephaly 10.1
9 strabismus 10.0
10 learning disability 10.0
11 mechanical strabismus 10.0
12 kcnq2-related disorders 10.0
13 hypotonia 10.0
14 polykaryocytosis inducer 9.9
15 arachnoid cysts, intracranial 9.9
16 galactosialidosis 9.9
17 hypomelanosis of ito 9.9
18 epilepsy, idiopathic generalized 9.9
19 major affective disorder 8 9.9
20 major affective disorder 9 9.9
21 cyanosis, transient neonatal 9.9
22 carbonic anhydrase va deficiency, hyperammonemia due to 9.9
23 lissencephaly 9.9
24 exanthem 9.9
25 lennox-gastaut syndrome 9.9
26 chromosomal disease 9.9
27 allergic disease 9.9
28 bipolar disorder 9.9
29 hypereosinophilic syndrome 9.9
30 chromosomal triplication 9.9
31 chromosome 20p duplication 9.9
32 chromosome 20q duplication 9.9
33 growth hormone deficiency 9.9
34 plagiocephaly 9.9
35 ring chromosome 17 9.9
36 focal epilepsy 9.7
37 rare chromosomal anomaly 9.7

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



Diseases related to Ring Chromosome 20

Symptoms & Phenotypes for Ring Chromosome 20

Drugs & Therapeutics for Ring Chromosome 20

Drugs for Ring Chromosome 20 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 1 57-83-0 5994
2 Hormone Antagonists Phase 1
3 Hormones Phase 1
4 Progestins Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-Label, Single-Dose, Randomized, 2-Treatment, 2-Period Crossover Pharmacokinetic Study to Evaluate the Bioequivalence of 2 Progesterone Vaginal Rings 20% (w/w) in Postmenopausal Women Completed NCT02092571 Phase 1 Progesterone vaginal ring,

Search NIH Clinical Center for Ring Chromosome 20

Genetic Tests for Ring Chromosome 20

Genetic tests related to Ring Chromosome 20:

# Genetic test Affiliating Genes
1 Ring Chromosome 20 Syndrome 29

Anatomical Context for Ring Chromosome 20

Publications for Ring Chromosome 20

Articles related to Ring Chromosome 20:

(show top 50) (show all 84)
# Title Authors PMID Year
1
Transcriptome analysis of a ring chromosome 20 patient cohort. 61
33207017 2021
2
Epilepsy in Ring Chromosome 20 Syndrome Might Have Variable Clinical Features. 61
33623285 2020
3
Improvement of epilepsy with lacosamide in a patient with ring chromosome 20 syndrome. 61
32247529 2020
4
Assessing the role of ketogenic dietary therapy in ring chromosome 20 syndrome: A patient-led approach. 61
32524055 2020
5
Praxis-induced reflex seizures in two Japanese cases with ring chromosome 20 syndrome. 61
32301722 2020
6
Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes. 61
33363513 2020
7
Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20. 61
32082653 2020
8
A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature. 61
30385235 2019
9
Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified. 61
30455928 2018
10
Specificity of electroclinical features in the diagnosis of ring chromosome 20. 61
29414555 2018
11
[A patient with ring chromosome 20 syndrome and AGTR2 polymorphisms]. 61
28482393 2017
12
Phenotypical heterogeneity of morpheic seizures in ring chromosome 20 syndrome: a videopolysomnographic evidence. 61
28181065 2017
13
Epilepsy in ring chromosome 20 syndrome. 61
27816898 2016
14
Significant Improvements of EEG and Clinical Findings With Oral Lacosamide in a Patient With Ring Chromosome 20. 61
26240087 2016
15
Refractory and severe status epilepticus in a patient with ring chromosome 20 syndrome. 61
26980640 2016
16
Long-term EEG in patients with the ring chromosome 20 epilepsy syndrome. 61
27009934 2016
17
Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome. 61
27066580 2016
18
[Stimulation of the centromedian nucleus in refractory epilepsy associated to ring chromosome 20]. 61
26062827 2015
19
Autosomal ring chromosomes in human genetic disorders. 61
26835370 2015
20
Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome. 61
25843339 2015
21
Life with r(20)-Ring chromosome 20 syndrome. 61
25041315 2014
22
Rare epileptic syndrome of ring chromosome 20 with epileptic encephalopathy: a case report. 61
25391199 2014
23
[Electroclinical characteristics of a patient with ring chromosome 20 syndrome]. 61
24819941 2014
24
Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study. 61
24483620 2014
25
Low frequency mu-like activity characterizes cortical rhythms in epilepsy due to ring chromosome 20. 61
23968845 2014
26
Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine. 61
23916860 2013
27
[Ring chromosome 20 syndrome]. 61
24330998 2013
28
Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern. 61
23731915 2013
29
Lennox-Gastaut syndrome and epilepsy with myoclonic-astatic seizures. 61
23622212 2013
30
Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH. 61
23272278 2012
31
[A case of epilepsy with ring chromosome 20 syndrome]. 61
23157113 2012
32
Ictal involvement of the nigrostriatal system in subtle seizures of ring chromosome 20 epilepsy. 61
22738216 2012
33
Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration. 61
22591830 2012
34
Cognitive impairment and abnormal behaviour related to ring chromosome 20 aberration. 61
21858587 2012
35
Ring chromosome 20. 61
22406087 2012
36
Ring chromosome 20 syndrome: electroclinical description of six patients and review of the literature. 61
22424860 2012
37
The evolving electroclinical syndrome of "epilepsy with ring chromosome 20". 61
22000954 2012
38
Frontal motor seizure following non-convulsive status epilepticus in ring chromosome 20 syndrome. 61
22246017 2012
39
New association between ring chromosome 20 syndrome and hypomelanosis of Ito. 61
22000318 2011
40
[Polymorphic expression of epilepsy and cognitive impairment in ring chromosome 20 syndrome]. 61
21397468 2011
41
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. 61
20972251 2011
42
Exploring dopaminergic activity in ring chromosome 20 syndrome: a SPECT study. 61
20927024 2010
43
Exploring dopaminergic activity in ring chromosome 20 syndrome: a SPECT study. 61
20585311 2010
44
Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20. 61
20101685 2010
45
Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children. 61
19583784 2009
46
Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20. 61
19670346 2009
47
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. 61
19232114 2009
48
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. 61
19128450 2009
49
Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome. 61
19017565 2008
50
Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci. 61
17851150 2007

Variations for Ring Chromosome 20

Expression for Ring Chromosome 20

Search GEO for disease gene expression data for Ring Chromosome 20.

Pathways for Ring Chromosome 20

GO Terms for Ring Chromosome 20

Sources for Ring Chromosome 20

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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