MCID: RNG016
MIFTS: 24

Ring Chromosome 20 malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome 20

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Sources:
46NIH Rare Diseases, 24Genetics Home Reference, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ring Chromosome 20:

Name: Ring Chromosome 20 46 24 52
Ring Chromosome 20 Syndrome 46 24 25
Chromosome 20 Ring 46 66
Ring Chromosome 20 Epilepsy Syndrome 24
 
Ring 20 Syndrome 24
R(20) Syndrome 24
Ring 20 46
R20 46

Characteristics:

Orphanet epidemiological data:

52
ring chromosome 20:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

Orphanet52 ORPHA1444
ICD10 via Orphanet29 Q93.2
MESH via Orphanet38 C535369
UMLS via Orphanet67 C0265482, C2930886

Summaries for Ring Chromosome 20

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NIH Rare Diseases:46 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). Affiliated tissues include brain.

Genetics Home Reference:24 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.

Wikipedia:69 Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality... more...

Related Diseases for Ring Chromosome 20

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Graphical network of diseases related to Ring Chromosome 20:



Diseases related to ring chromosome 20

Symptoms for Ring Chromosome 20

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Drugs & Therapeutics for Ring Chromosome 20

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1ProgestinsPhase 1525
2
ProgesteronePhase 151557-83-05994
Synonyms:
(S)-4-Pregnene-3,20-dione
(S)-Pregn-4-en-3,20-dione
(S)-Progesterone
.beta.-Progesterone
.delta.(sup4)-Pregnene-3,20-dione
.delta.4-Pregnene-3,20-dione
17.alpha.-Progesterone
17a-Progesterone
17alpha-Progesterone
17alpha-progesterone
17α-progesterone
1dbb
1h60
257630-50-5
3,20-Pregnene-4
32104FB6-BF81-4F6E-83C2-024DEEAEB272
4-Pregnen-3,20-dione
4-Pregnene-3,20-dione
46665_FLUKA
46665_RIEDEL
57-83-0
753497-20-0
8012-32-6
8023-13-0
AC-700
AC1L1LKF
AI3-51682
Agolutin
Akrolutin
BB_NC-0185
BHR-100
BIDD:ER0547
BIDD:PXR0094
BPBio1_000676
BRD-K64994968-001-03-6
BSPBio_000614
Bio-luton
C00410
CCRIS 533
CHEBI:17026
CHEMBL103
CID5994
CIDR
CMC_13406
COL-1620
CPD000058345
Colprosterone
Corlutin
Corlutina
Corluvite
Corporin
Corpus Luteum Hormone
Corpus luteum hormone
Crinone
Crinone (TN)
Crinone progesterone gel
Curretab
Cyclogest
Cyclogesterin
D00066
D4-Pregnene-3,20-dione
DB00396
DR-2011
Delalutin
Delta(4)-pregnene-3,20-dione
Duraprogen
EINECS 200-350-6
ETI-411
EU-0100895
Endometrin
Estima
FE-999913
Flavolutan
Fologenon
Gelbkoerperhormon
Gesterol
Gesterol 100
Gesterol 50
Gestiron
Gestone
Gestormone
Gestron
Glanducorpin
Gynlutin
Gynoluton
Gynolutone
HMS1569O16
HMS2051O05
HMS2090J07
HSDB 3389
Hormoflaveine
Hormoluton
Hydroxyprogesterone Caproate
Hydroxyprogesterone Caproic acid
LMST02030159
LS-234
Lingusorbs
Lipo-Lutin
Lipolutin
Lopac0_000895
Lucorteum
Lucorteum Sol
Lucorteum sol
Lugesteron
Luteal hormone
Luteinique
Luteocrin normale
Luteodyn
Luteogan
Luteohormone
Luteol
Luteol (VAN)
Luteopur
Luteosan
Luteostab
Luteovis
Luteum
Lutex
Lutidon
Lutin
Lutinus
Lutociclina
Lutocuclin M
Lutocyclin
Lutocyclin M
 
Lutocyclin m
Lutocylin
Lutocylol
Lutoform
Lutogyl
Lutogynon
Lutren
Lutromone
MLS000028517
MLS000758277
MLS001074187
MLS002222367
MPA
Membrettes
Methylpregnone
Micronized Progesterone
MolPort-001-794-643
NCGC00022185-03
NCGC00022185-04
NCGC00022185-05
NCGC00022185-06
NCGC00022185-07
NCGC00022185-08
NCGC00022185-09
NCGC00090798-01
NCGC00090798-02
NCI60_042166
NSC 64377
NSC 9704
NSC-9704
NSC64377
NSC9704
Nalutron
Natural Progesterone
P 0130
P0130_SIGMA
P0478
P3972_SIGMA
P6149_SIGMA
P7556_ALDRICH
P7556_SIGMA
P8783_SIGMA
P9776_SIGMA
PROGESTERONE
Percutacrine
Percutacrine Luteinique
Piaponon
Pranone
Pregn-4-en-3,20-dione
Pregn-4-ene-3,20-dione
Pregnene-3,20-dione
Pregnenedione
Prestwick0_000477
Prestwick1_000477
Prestwick2_000477
Prestwick3_000477
Prestwick_411
Primolut
Prochieve
Progeffik
Progekan
Progestan
Progestasert
Progesterol
Progesteron
Progesterona
Progesterona [INN-Spanish]
Progesterone
Progesterone (JP15/USP/INN)
Progesterone [INN:BAN:JAN]
Progesterone [Progestins]
Progesterone, water-soluble
Progesterone-Water Soluble
Progesterone: HBC complex
Progesteronum
Progesteronum [INN-Latin]
Progestin
Progestogel
Progestol
Progeston
Progestone
Progestosol
Progestrel
Progestron
Progestronol
Progestérone
Projestaject
Prolets
Prolidon
Prolutin
Proluton
Prolutone
Prometrium
Prometrium (TN)
Prontogest
Protormone
S00293
S1705_Selleck
SAM001247039
SMR000058345
SMR000653542
SPBio_002553
SR-01000000088
SR-01000000088-5
Spectrum5_002053
Syngesterone
Syngestrets
Synovex S
Syntolutan
U 3672
UNII-4G7DS2Q64Y
Utrogest
Utrogestan
Vitarrine
WLN: L E5 B666 OV MUTJ A1 E1 FV1
ZINC04428529
beta-Progesterone
bmse000482
component of Cyclogesterin
corpus luteum hormone
delta(4)-Pregnene-3,20-dione
delta(Sup 4)-Pregnene-3,20-dione
delta(Sup4)-pregnene-3,20-dione
delta(sup 4)-Pregnene-3,20-dione
delta4-Pregnene-3,20-dione
luteohormone
nchembio.2007.53-comp14

Interventional clinical trials:

idNameStatusNCT IDPhase
1Activity and Tolerability of Pazopanib in Advanced and/or Metastatic Liposarcoma. A Phase II Clinical TrialActive, not recruitingNCT01692496Phase 2
2A Pharmacokinetic Study to Evaluate the Bioequivalence of 2 Progesterone Vaginal Rings in Postmenopausal WomenCompletedNCT02092571Phase 1

Search NIH Clinical Center for Ring Chromosome 20

Genetic Tests for Ring Chromosome 20

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Genetic tests related to Ring Chromosome 20:

id Genetic test Affiliating Genes
1 Ring Chromosome 20 Syndrome25

Anatomical Context for Ring Chromosome 20

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MalaCards organs/tissues related to Ring Chromosome 20:

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

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Sources for Ring Chromosome 20

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet