MCID: RNG009
MIFTS: 14

Ring Chromosome 14 malady

Neuronal diseases, Fetal diseases categories

Summaries for Ring Chromosome 14

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Sources:
21Genetics Home Reference, 63Wikipedia, 32MalaCards
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Genetics Home Reference:21 Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of intellectual disability or learning problems. Development may be delayed, particularly the development of speech and of motor skills such as sitting, standing, and walking.

MalaCards: Ring Chromosome 14, also known as ring chromosome 14 syndrome, is related to epilepsy syndrome and status epilepticus.

Wikipedia:63 Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of... more...

Aliases & Classifications for Ring Chromosome 14

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
ring chromosome 14:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

ring chromosome 14 42 21 48
ring chromosome 14 syndrome 42 21
chromosome 14 ring 42 60
ring 14 42 21
ring 14 syndrome 21


External Ids:

MESH via Orphanet35 C535487
ICD10 via Orphanet26 Q93.2
UMLS via Orphanet61 C2930916

Related Diseases for Ring Chromosome 14

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Ring Chromosome 14:



Diseases related to ring chromosome 14

Clinical Features for Ring Chromosome 14

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Drugs & Therapeutics for Ring Chromosome 14

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Ring Chromosome 14

Search CenterWatch for Ring Chromosome 14

Genetic Tests for Ring Chromosome 14

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Anatomical Context for Ring Chromosome 14

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Animal Models for Ring Chromosome 14 or affiliated genes

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Publications for Ring Chromosome 14

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Genetic Variations for Ring Chromosome 14

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Expression for genes affiliated with Ring Chromosome 14

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Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Ring Chromosome 14.

Pathways for genes affiliated with Ring Chromosome 14

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Compounds for genes affiliated with Ring Chromosome 14

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GO Terms for genes affiliated with Ring Chromosome 14

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Products for genes affiliated with Ring Chromosome 14

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ring Chromosome 14

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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