MCID: RNG016
MIFTS: 27

Ring Chromosome 20 malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome 20

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Sources:
45NIH Rare Diseases, 23Genetics Home Reference, 51Orphanet, 65UMLS, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ring Chromosome 20:

Name: Ring Chromosome 20 45 23 51
Ring Chromosome 20 Syndrome 45 23 24
Chromosome 20 Ring 45 65
Ring Chromosome 20 Epilepsy Syndrome 23
 
Ring 20 Syndrome 23
R(20) Syndrome 23
Ring 20 45
R20 45

Characteristics:

Orphanet epidemiological data:

51
ring chromosome 20:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

Orphanet51 1444
ICD10 via Orphanet28 Q93.2
MESH via Orphanet37 C535369
UMLS via Orphanet66 C0265482, C2930886
UMLS65 C2930886

Summaries for Ring Chromosome 20

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NIH Rare Diseases:45 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 breast cancer and cataract. An important gene associated with Ring Chromosome 20 is CTSA (Cathepsin A). Affiliated tissues include brain, bone and liver.

Genetics Home Reference:23 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:68 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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Diseases in the Ring Chromosome Y family:

Ring Chromosome 14 Syndrome Ring Chromosome 1
Ring Chromosome 10 Ring Chromosome 11
Ring Chromosome 12 Ring Chromosome 13
Ring Chromosome 15 Ring Chromosome 16
Ring Chromosome 17 Ring Chromosome 18
Ring Chromosome 19 Ring Chromosome 2
ring chromosome 20 Ring Chromosome 21
Ring Chromosome 22 Ring Chromosome 3
Ring Chromosome 4 Ring Chromosome 5
Ring Chromosome 6 Ring Chromosome 7
Ring Chromosome 8 Ring Chromosome 9

Diseases related to Ring Chromosome 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer10.2
2cataract10.2
3genital herpes10.2
4asthma10.1
5esophageal cancer10.1
6lipoprotein glomerulopathy10.1
7acute leukemia10.1
8aortic arch interruption10.1
9arteriovenous fistula10.1
10dengue hemorrhagic fever10.1
11glycogen storage disease10.1
12hemangioma10.1
13hepatitis10.1
14leukemia10.1
15myelofibrosis10.1
16paroxysmal nocturnal hemoglobinuria10.1
17posterior polar cataract10.1
18metabolic acidosis10.1
19cholelithiasis10.1
20endocarditis10.1
21amblyopia10.1
22murray valley encephalitis10.1
23esophagitis10.1
24transient global amnesia10.1
25primary angle-closure glaucoma10.1
26urticaria10.1
27ventricular septal defect10.1
28thyroid cancer10.1
29endodermal sinus tumor10.1
30hyperuricemia10.1
31dermatitis10.1
32contact dermatitis10.1
33cerebritis10.1
34mutism10.1
35subacute bacterial endocarditis10.1
36skin hemangioma10.1
37hemoglobinuria10.1
38thyroiditis10.1
39neuronitis10.1
40polycythemia10.1
41chronic fatigue syndrome10.1
42encephalitis10.1
43essential thrombocythemia10.1
44hemorrhagic fever10.1
45hemorrhagic shock and encephalopathy syndrome10.1
46encephalopathy10.1

Graphical network of the top 20 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
1
ProgesteroneapprovedPhase 150057-83-05994
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
2ProgestinsPhase 1433
3Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 19988
4HormonesPhase 111748
5Hormone AntagonistsPhase 110002

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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Anatomical Context for Ring Chromosome 20

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MalaCards organs/tissues related to Ring Chromosome 20:

33
Brain, Bone, Liver, Pituitary, Breast, Tongue, Skin

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 46)
idTitleAuthorsYear
1
Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. (25678555)
2015
2
Total adiponectin is inversely associated with platelet activation and CHAa88DSa88-VASc score in anticoagulated patients with atrial fibrillation. (24771985)
2014
3
The homeodomain transcription factor PITX2 is required for specifying correct cell fates and establishing angiogenic privilege in the developing cornea. (25044936)
2014
4
Global cerebral atrophy after subarachnoid hemorrhage: a possible marker of acute brain injury and assessment of its impact on outcome. (22890637)
2013
5
Spontaneous regression of an unruptured and non-giant intracranial aneurysm. (23115669)
2012
6
Thrombotic and hemorrhagic presentation of congenital hypo/afibrinogenemia. (20870369)
2011
7
Perinatal outcome of sacrococcygeal teratoma. (22024911)
2011
8
Structure-based design of residue 1 analogs of the direct thrombin inhibitor pentapeptide FM 19. (19954432)
2010
9
Pharmacokinetic study of once-daily versus twice-daily abacavir and lamivudine in HIV type-1-infected children aged 3-&lt;36 months. (20516550)
2010
10
Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome. (20587992)
2010
11
Lupus nephritis associated with complete C1s deficiency efficiently treated with rituximab: a case report. (20191570)
2010
12
Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure. (19502998)
2009
13
The relationship between attention deficit hyperactivity disorder, conduct disorder, and psychopathy in adolescent male and female detainees. (19387992)
2009
14
Repair of multiple right renal artery aneurysms with associated fibromuscular dysplasia in a solitary kidney. (19216969)
2009
15
Symposium: Update on prediction and management of OHSS. Optimal dose of HCG for final oocyte maturation in IVF cycles: absence of evidence? (19573290)
2009
16
Nicotinic receptor gene variants influence susceptibility to heavy smoking. (19029397)
2008
17
Cyclic AMP enhances Smad-mediated BMP signaling through PKA-CREB pathway. (18758906)
2008
18
Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease. (17894362)
2008
19
Comments on the manuscript &quot;Hepatorenal syndrome: an update&quot;. (18425291)
2008
20
Effect of beta blockers, angiotensin-converting enzyme inhibitors or angiotensin receptor blockers, and statins on mortality in patients with implantable cardioverter-defibrillators. (18572039)
2008
21
Melatonin treatment in adolescents with delayed sleep phase syndrome. (17041168)
2006
22
Transcatheter intravascular stent placement to relieve supravalvular pulmonic stenosis. (19083348)
2006
23
Wild-type and mutant B-RAF activate C-RAF through distinct mechanisms involving heterodimerization. (16364920)
2005
24
Characteristic expression of aryl hydrocarbon receptor repressor gene in human tissues: organ-specific distribution and variable induction patterns in mononuclear cells. (14672759)
2004
25
Fluvastatin enhances the inhibitory effects of a selective angiotensin II type 1 receptor blocker, valsartan, on vascular neointimal formation. (12515751)
2003
26
TAP1, TAP2, and HLA-DR2 alleles are predictors of cervical cancer risk. (12648582)
2003
27
Eye movement, vection, and motion sickness with foveal and peripheral vision. (12793532)
2003
28
Finding of TRE (TPA responsive element) in the sequence of human taurine transporter promoter. (12908596)
2003
29
Fourier analysis of induced irregular astigmatism. Photorefractive keratectomy versus laser in situ keratomileusis in a bilateral cohort of hyperopic patients. (14522289)
2003
30
Stat5B shuttles between cytoplasm and nucleus in a cytokine-dependent and -independent manner. (11971004)
2002
31
Transcriptional regulation of the estrogen-inducible pS2 breast cancer marker gene by the ERR family of orphan nuclear receptors. (11559547)
2001
32
Expression of complement regulatory proteins on islets of Langerhans: a comparison between human islets and islets isolated from normal and hDAF transgenic pigs. (11477359)
2001
33
The heterogeneous nuclear ribonucleoprotein K (hnRNP K) interacts with dengue virus core protein. (11747608)
2001
34
Markers for vitiligo related neuropeptides in human skin nerve fibers. (11028109)
2000
35
Consequences of cell death: exposure to necrotic tumor cells, but not primary tissue cells or apoptotic cells, induces the maturation of immunostimulatory dendritic cells. (10662788)
2000
36
Regulation of CYP11B2 gene expression by protein kinase C. (11196412)
2000
37
Iatrogenic quadriplegia and bone wax. Case illustration. (10763705)
2000
38
Evaluation of argyrophilic nucleolar organizer regions in tongue squamous cell carcinomas. (10211313)
1999
39
Highly selective aldose reductase inhibitors. II. Optimization of the aryl part of 3-(arylmethyl)-2,4,5-trioxoimidazolidine-1-acetic acids. (9118444)
1997
40
A fundamental subdivision of circulating lymphocytes defined by adhesion to mucosal addressin cell adhesion molecule-1. Comparison with vascular cell adhesion molecule-1 and correlation with beta 7 integrins and memory differentiation. (8621908)
1996
41
Pituitary macroadenoma in Addison's disease. (8737233)
1996
42
Cellular levels of thioredoxin associated with drug sensitivity to cisplatin, mitomycin C, doxorubicin, and etoposide. (7671238)
1995
43
Status asthmaticus with acute decompensation with therapy in a 27-year-old woman. (7842796)
1995
44
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. (8825602)
1995
45
Analyses of p53 antibodies in sera of patients with lung carcinoma define immunodominant regions in the p53 protein. (7514026)
1994
46
Drug treatment of chronic tuberculous empyema. (1600813)
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet