Ring Chromosome 20 malady
Categories: Rare diseases, Neuronal diseases, Fetal diseases
Aliases & Descriptions for Ring Chromosome 20:
Orphanet epidemiological data:51
ring chromosome 20:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Global: Rare diseases, Fetal diseases
Anatomical: Neuronal diseases
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 status epilepticus and epilepsy syndrome. An important gene associated with Ring Chromosome 20 is CTSA (Cathepsin A). Affiliated tissues include brain, thyroid and breast.
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...
Diseases in the Ring Chromosome Y family:
Diseases related to Ring Chromosome 20 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Ring Chromosome 20:
Drugs for Ring Chromosome 20 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Ring Chromosome 20
MalaCards organs/tissues related to Ring Chromosome 20:33
Brain, Thyroid, Breast, Skin, Liver, Tongue, Pituitary
Articles related to Ring Chromosome 20:(show all 49)
Search GEO for disease gene expression data for Ring Chromosome 20.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet