MCID: RNG016
MIFTS: 21

Ring Chromosome 20 malady

Rare diseases, Neuronal diseases, Fetal diseases categories

Summaries for Ring Chromosome 20

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

Aliases & Classifications for Ring Chromosome 20

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Sources:
41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Ring Chromosome 20, Aliases & Descriptions:

Name: Ring Chromosome 20 41 21 47
Ring Chromosome 20 Syndrome 41 21
Chromosome 20 Ring 41 60
Ring Chromosome 20 Epilepsy Syndrome 21
 
Ring 20 Syndrome 21
R(20) Syndrome 21
Ring 20 41
R20 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
ring chromosome 20:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet47 1444
MESH via Orphanet34 C535369
ICD10 via Orphanet26 Q93.2
UMLS via Orphanet61 C0265482, C2930886

Related Diseases for Ring Chromosome 20

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Symptoms for Ring Chromosome 20

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Drugs & Therapeutics for Ring Chromosome 20

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Drug clinical trials:

Search ClinicalTrials for Ring Chromosome 20

Search NIH Clinical Center for Ring Chromosome 20

Genetic Tests for Ring Chromosome 20

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Anatomical Context for Ring Chromosome 20

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MalaCards organs/tissues related to Ring Chromosome 20:

31
Brain

Animal Models for Ring Chromosome 20 or affiliated genes

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Publications for Ring Chromosome 20

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Articles related to Ring Chromosome 20:

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

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Expression for genes affiliated with Ring Chromosome 20

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

Pathways for genes affiliated with Ring Chromosome 20

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Compounds for genes affiliated with Ring Chromosome 20

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GO Terms for genes affiliated with Ring Chromosome 20

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Products for genes affiliated with Ring Chromosome 20

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ring Chromosome 20

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet