R20
MCID: RNG016
MIFTS: 25

Ring Chromosome 20 (R20) malady

Rare diseases, Neuronal diseases, Fetal diseases categories
Download this MalaCard

Summaries for Ring Chromosome 20

About this section


Fully expand this MalaCard
Genetics Home Reference:21 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.

MalaCards based summary: Ring Chromosome 20, also known as ring chromosome 20 syndrome, is related to status epilepticus and epilepsy syndrome. An important gene associated with Ring Chromosome 20 is CTSA (cathepsin A). Affiliated tissues include brain.

Wikipedia:65 Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality... more...

Aliases & Classifications for Ring Chromosome 20

About this section
Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Ring Chromosome 20, Aliases & Descriptions:

Name: Ring Chromosome 20 42 21 48
Ring Chromosome 20 Syndrome 42 21 62
Chromosome 20 Ring 42 62
Ring Chromosome 20 Epilepsy Syndrome 21
 
Ring 20 Syndrome 21
R(20) Syndrome 21
Ring 20 42
R20 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
ring chromosome 20:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

MESH via Orphanet35 C535369
ICD10 via Orphanet26 Q93.2
UMLS via Orphanet63 C0265482, C2930886

Related Diseases for Ring Chromosome 20

About this section

Symptoms for Ring Chromosome 20

About this section

Drugs & Therapeutics for Ring Chromosome 20

About this section

Drug clinical trials:

Search ClinicalTrials for Ring Chromosome 20

Search NIH Clinical Center for Ring Chromosome 20

Genetic Tests for Ring Chromosome 20

About this section

Anatomical Context for Ring Chromosome 20

About this section

MalaCards organs/tissues related to Ring Chromosome 20:

32
Brain

Animal Models for Ring Chromosome 20 or affiliated genes

About this section

Publications for Ring Chromosome 20

About this section

Articles related to Ring Chromosome 20:

(show all 44)
idTitleAuthorsYear
1
Life with r(20)-Ring chromosome 20 syndrome. (25041315)
2014
2
Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study. (24483620)
2014
3
Rare epileptic syndrome of ring chromosome 20 with epileptic encephalopathy: a case report. (25391199)
2014
4
Low frequency mu-like activity characterizes cortical rhythms in epilepsy due to ring chromosome 20. (23968845)
2014
5
Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine. (23916860)
2013
6
Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern. (23731915)
2013
7
Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH. (23272278)
2012
8
Ring chromosome 20. (22406087)
2012
9
Cognitive impairment and abnormal behaviour related to ring chromosome 20 aberration. (21858587)
2012
10
Ring chromosome 20 syndrome: electroclinical description of six patients and review of the literature. (22424860)
2012
11
Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration. (22591830)
2012
12
Ictal involvement of the nigrostriatal system in subtle seizures of ring chromosome 20 epilepsy. (22738216)
2012
13
Frontal motor seizure following non-convulsive status epilepticus in ring chromosome 20 syndrome. (22246017)
2012
14
The evolving electroclinical syndrome of &quot;epilepsy with ring chromosome 20&quot;. (22000954)
2012
15
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. (20972251)
2011
16
New association between ring chromosome 20 syndrome and hypomelanosis of Ito. (22000318)
2011
17
Exploring dopaminergic activity in ring chromosome 20 syndrome: a SPECT study. (20585311)
2010
18
Exploring dopaminergic activity in ring chromosome 20 syndrome: a SPECT study. (20927024)
2010
19
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. (19128450)
2009
20
Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20. (19670346)
2009
21
Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children. (19583784)
2009
22
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. (19232114)
2009
23
Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome. (19017565)
2008
24
Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci. (17851150)
2007
25
Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome. (17884758)
2007
26
Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years. (16806995)
2006
27
Early pattern of epilepsy in the ring chromosome 20 syndrome. (16529619)
2006
28
Regarding: 'Mosaicism and seizure onset in ring chromosome 20 syndrome'. (16097967)
2005
29
Ring chromosome 20 syndrome with intractable epilepsy. (15892377)
2005
30
Ring chromosome 20 with nonconvulsive status epilepticus: electroclinical correlation of a rare epileptic syndrome. (16128150)
2005
31
Mosaicism and phenotype in ring chromosome 20 syndrome. (15691292)
2005
32
Supernumerary ring chromosome 20 in a mother and her child. (15666311)
2005
33
PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy. (15249613)
2004
34
Ring chromosome 20 epilepsy syndrome in children: electroclinical features. (11914429)
2002
35
Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation: case report and review of the literature. (12546436)
2002
36
Epilepsy and ring chromosome 20: case report. (12244405)
2002
37
Ring chromosome 20 epilepsy syndrome in children: electroclinical features. (11571346)
2001
38
Clinical findings in a patient mosaic for a supernumerary ring chromosome 20. (10756336)
2000
39
Non-convulsive status in the ring chromosome 20 syndrome: a video illustration of 3 cases. (10937160)
1999
40
Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. (9217679)
1997
41
Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. (8721573)
1996
42
Ring chromosome 20 mosaicism in a girl with complex partial seizures. (8132117)
1994
43
Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS. (8403451)
1993
44
Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20. (1605251)
1992

Variations for Ring Chromosome 20

About this section

Expression for genes affiliated with Ring Chromosome 20

About this section
Expression patterns in normal tissues for genes affiliated with Ring Chromosome 20

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

Pathways for genes affiliated with Ring Chromosome 20

About this section

Compounds for genes affiliated with Ring Chromosome 20

About this section

GO Terms for genes affiliated with Ring Chromosome 20

About this section

Products for genes affiliated with Ring Chromosome 20

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Ring Chromosome 20

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet