MCID: RNG016
MIFTS: 25

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 53 25 59
Ring Chromosome 20 Syndrome 53 25 59 37 29
Chromosome 20 Ring 53 73
Ring 20 53 59
Ring Chromosome 20 Epilepsy Syndrome 25
Ring 20 Syndrome 25
R(20) Syndrome 25
R20 53

Characteristics:

Orphanet epidemiological data:

59
ring chromosome 20 syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA1444
UMLS via Orphanet 74 C0265482 C2930886
MESH via Orphanet 45 C535369
ICD10 via Orphanet 34 Q93.2
KEGG 37 H01831
UMLS 73 C2930886

Summaries for Ring Chromosome 20

NIH Rare Diseases : 53 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.

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 Progestins 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):


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

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Ring Chromosome 20 Syndrome 29

Anatomical Context for Ring Chromosome 20

MalaCards organs/tissues related to Ring Chromosome 20:

41
Brain

Publications for Ring Chromosome 20

Articles related to Ring Chromosome 20:

(show top 50) (show all 52)
# Title Authors Year
1
Specificity of electroclinical features in the diagnosis of ring chromosome 20. ( 29414555 )
2018
2
Phenotypical heterogeneity of morpheic seizures in ring chromosome 20 syndrome: a videopolysomnographic evidence. ( 28181065 )
2017
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
Long-term EEG in patients with the ring chromosome 20 epilepsy syndrome. ( 27009934 )
2016
6
Epilepsy in ring chromosome 20 syndrome. ( 27816898 )
2016
7
Significant Improvements of EEG and Clinical Findings With Oral Lacosamide in a Patient With Ring Chromosome 20. ( 26240087 )
2015
8
Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome. ( 25843339 )
2015
9
Rare epileptic syndrome of ring chromosome 20 with epileptic encephalopathy: a case report. ( 25391199 )
2014
10
Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study. ( 24483620 )
2014
11
Low frequency mu-like activity characterizes cortical rhythms in epilepsy due to ring chromosome 20. ( 23968845 )
2014
12
Life with r(20)-Ring chromosome 20 syndrome. ( 25041315 )
2014
13
Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine. ( 23916860 )
2013
14
Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern. ( 23731915 )
2013
15
Ictal involvement of the nigrostriatal system in subtle seizures of ring chromosome 20 epilepsy. ( 22738216 )
2012
16
The evolving electroclinical syndrome of &amp;quot;epilepsy with ring chromosome 20&amp;quot;. ( 22000954 )
2012
17
Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH. ( 23272278 )
2012
18
Cognitive impairment and abnormal behaviour related to ring chromosome 20 aberration. ( 21858587 )
2012
19
Ring chromosome 20. ( 22406087 )
2012
20
Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration. ( 22591830 )
2012
21
Ring chromosome 20 syndrome: electroclinical description of six patients and review of the literature. ( 22424860 )
2012
22
Frontal motor seizure following non-convulsive status epilepticus in ring chromosome 20 syndrome. ( 22246017 )
2012
23
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. ( 20972251 )
2011
24
New association between ring chromosome 20 syndrome and hypomelanosis of Ito. ( 22000318 )
2011
25
Exploring dopaminergic activity in ring chromosome 20 syndrome: a SPECT study. ( 20927024 )
2010
26
Exploring dopaminergic activity in ring chromosome 20 syndrome: a SPECT study. ( 20585311 )
2010
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
Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children. ( 19583784 )
2009
30
Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20. ( 19670346 )
2009
31
Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome. ( 19017565 )
2008
32
Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome. ( 17884758 )
2007
33
Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci. ( 17851150 )
2007
34
Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years. ( 16806995 )
2006
35
Early pattern of epilepsy in the ring chromosome 20 syndrome. ( 16529619 )
2006
36
Supernumerary ring chromosome 20 in a mother and her child. ( 15666311 )
2005
37
Mosaicism and phenotype in ring chromosome 20 syndrome. ( 15691292 )
2005
38
Ring chromosome 20 with nonconvulsive status epilepticus: electroclinical correlation of a rare epileptic syndrome. ( 16128150 )
2005
39
Ring chromosome 20 syndrome with intractable epilepsy. ( 15892377 )
2005
40
Regarding: 'Mosaicism and seizure onset in ring chromosome 20 syndrome'. ( 16097967 )
2005
41
PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy. ( 15249613 )
2004
42
Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation: case report and review of the literature. ( 12546436 )
2002
43
Ring chromosome 20 epilepsy syndrome in children: electroclinical features. ( 11914429 )
2002
44
Epilepsy and ring chromosome 20: case report. ( 12244405 )
2002
45
Ring chromosome 20 epilepsy syndrome in children: electroclinical features. ( 11571346 )
2001
46
Clinical findings in a patient mosaic for a supernumerary ring chromosome 20. ( 10756336 )
2000
47
Non-convulsive status in the ring chromosome 20 syndrome: a video illustration of 3 cases. ( 10937160 )
1999
48
Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. ( 9217679 )
1997
49
Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. ( 8721573 )
1996
50
Ring chromosome 20 mosaicism in a girl with complex partial seizures. ( 8132117 )
1994

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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