MCID: RNG016
MIFTS: 23

Ring Chromosome 20

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome 20

MalaCards integrated aliases for Ring Chromosome 20:

Name: Ring Chromosome 20 50 25 56
Ring Chromosome 20 Syndrome 50 25 29
Chromosome 20 Ring 50 69
Ring Chromosome 20 Epilepsy Syndrome 25
Ring 20 Syndrome 25
R(20) Syndrome 25
Ring 20 50
R20 50

Characteristics:

Orphanet epidemiological data:

56
ring chromosome 20
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA1444
UMLS via Orphanet 70 C0265482 C2930886
MESH via Orphanet 43 C535369
ICD10 via Orphanet 34 Q93.2

Summaries for Ring Chromosome 20

NIH Rare Diseases : 50 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. last updated: 1/26/2016

MalaCards based summary : Ring Chromosome 20, also known as ring chromosome 20 syndrome, is related to epilepsy and status epilepticus. 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. Affiliated tissues include brain.

Genetics Home Reference : 25 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.

Related Diseases for Ring Chromosome 20

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):


id 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 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
5 Progestins Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Pharmacokinetic Study to Evaluate the Bioequivalence of 2 Progesterone Vaginal Rings 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:

id Genetic test Affiliating Genes
1 Ring Chromosome 20 Syndrome 29

Anatomical Context for Ring Chromosome 20

MalaCards organs/tissues related to Ring Chromosome 20:

39
Brain

Publications for Ring Chromosome 20

Articles related to Ring Chromosome 20:

(show top 50) (show all 51)
id Title Authors Year
1
Phenotypical heterogeneity of morpheic seizures in ring chromosome 20 syndrome: a videopolysomnographic evidence. ( 28181065 )
2017
2
Long-term EEG in patients with the ring chromosome 20 epilepsy syndrome. ( 27009934 )
2016
3
Refractory and severe status epilepticus in a patient with ring chromosome 20 syndrome. ( 26980640 )
2016
4
Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome. ( 27066580 )
2016
5
Epilepsy in ring chromosome 20 syndrome. ( 27816898 )
2016
6
Significant Improvements of EEG and Clinical Findings With Oral Lacosamide in a Patient With Ring Chromosome 20. ( 26240087 )
2015
7
Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome. ( 25843339 )
2015
8
Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study. ( 24483620 )
2014
9
Life with r(20)-Ring chromosome 20 syndrome. ( 25041315 )
2014
10
Low frequency mu-like activity characterizes cortical rhythms in epilepsy due to ring chromosome 20. ( 23968845 )
2014
11
Rare epileptic syndrome of ring chromosome 20 with epileptic encephalopathy: a case report. ( 25391199 )
2014
12
Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine. ( 23916860 )
2013
13
Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern. ( 23731915 )
2013
14
Ring chromosome 20. ( 22406087 )
2012
15
Cognitive impairment and abnormal behaviour related to ring chromosome 20 aberration. ( 21858587 )
2012
16
The evolving electroclinical syndrome of "epilepsy with ring chromosome 20". ( 22000954 )
2012
17
Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH. ( 23272278 )
2012
18
Ring chromosome 20 syndrome: electroclinical description of six patients and review of the literature. ( 22424860 )
2012
19
Ictal involvement of the nigrostriatal system in subtle seizures of ring chromosome 20 epilepsy. ( 22738216 )
2012
20
Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration. ( 22591830 )
2012
21
Frontal motor seizure following non-convulsive status epilepticus in ring chromosome 20 syndrome. ( 22246017 )
2012
22
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. ( 20972251 )
2011
23
New association between ring chromosome 20 syndrome and hypomelanosis of Ito. ( 22000318 )
2011
24
Exploring dopaminergic activity in ring chromosome 20 syndrome: a SPECT study. ( 20927024 )
2010
25
Exploring dopaminergic activity in ring chromosome 20 syndrome: a SPECT study. ( 20585311 )
2010
26
Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children. ( 19583784 )
2009
27
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. ( 19232114 )
2009
28
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. ( 19128450 )
2009
29
Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20. ( 19670346 )
2009
30
Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome. ( 19017565 )
2008
31
Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome. ( 17884758 )
2007
32
Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci. ( 17851150 )
2007
33
Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years. ( 16806995 )
2006
34
Early pattern of epilepsy in the ring chromosome 20 syndrome. ( 16529619 )
2006
35
Regarding: 'Mosaicism and seizure onset in ring chromosome 20 syndrome'. ( 16097967 )
2005
36
Ring chromosome 20 syndrome with intractable epilepsy. ( 15892377 )
2005
37
Ring chromosome 20 with nonconvulsive status epilepticus: electroclinical correlation of a rare epileptic syndrome. ( 16128150 )
2005
38
Mosaicism and phenotype in ring chromosome 20 syndrome. ( 15691292 )
2005
39
Supernumerary ring chromosome 20 in a mother and her child. ( 15666311 )
2005
40
PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy. ( 15249613 )
2004
41
Epilepsy and ring chromosome 20: case report. ( 12244405 )
2002
42
Ring chromosome 20 epilepsy syndrome in children: electroclinical features. ( 11914429 )
2002
43
Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation: case report and review of the literature. ( 12546436 )
2002
44
Ring chromosome 20 epilepsy syndrome in children: electroclinical features. ( 11571346 )
2001
45
Clinical findings in a patient mosaic for a supernumerary ring chromosome 20. ( 10756336 )
2000
46
Non-convulsive status in the ring chromosome 20 syndrome: a video illustration of 3 cases. ( 10937160 )
1999
47
Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. ( 9217679 )
1997
48
Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. ( 8721573 )
1996
49
Ring chromosome 20 mosaicism in a girl with complex partial seizures. ( 8132117 )
1994
50
Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS. ( 8403451 )
1993

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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