R20
MCID: RNG016
MIFTS: 16

Ring Chromosome 20 (R20) malady

Neuronal diseases, Fetal diseases categories

Summaries for Ring Chromosome 20

About this section
Sources:
21Genetics Home Reference, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export 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: Ring Chromosome 20, also known as ring chromosome 20 syndrome, is related to status epilepticus. 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

About this section
Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

ring chromosome 20 42 21 48
ring chromosome 20 syndrome 42 21 60
chromosome 20 ring 42 60
ring chromosome 20 epilepsy syndrome 21
ring 20 syndrome 21
r(20) syndrome 21
ring 20 42
r20 42


External Ids:

MESH via Orphanet35 C535369
ICD10 via Orphanet26 Q93.2
SNOMED-CT via Orphanet57 23686004
UMLS via Orphanet61 C0265482, C2930886

Related Diseases for Ring Chromosome 20

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Clinical Features for Ring Chromosome 20

About this section

Drugs & Therapeutics for Ring Chromosome 20

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Ring Chromosome 20

Drug clinical trials:

Search ClinicalTrials for Ring Chromosome 20

Search NIH Clinical Center for Ring Chromosome 20

Search CenterWatch for Ring Chromosome 20

Genetic Tests for Ring Chromosome 20

About this section

Anatomical Context for Ring Chromosome 20

About this section
Sources:
32MalaCards
See all sources

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

Genetic Variations for Ring Chromosome 20

About this section

Expression for genes affiliated with Ring Chromosome 20

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet