MCID: RNG009
MIFTS: 11

Ring Chromosome 14 malady

Neuronal, Fetal categories

Summaries for Ring Chromosome 14

Sources:
21Genetics Home Reference, 64Wikipedia, 33MalaCards
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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 status epilepticus and blepharophimosis.

Wikipedia:64 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

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
ring chromosome 14:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

ring chromosome 14 43 21 49
ring chromosome 14 syndrome 43 21
chromosome 14 ring 43 61
ring 14 43 21
ring 14 syndrome 21


External Ids:

MESH via Orphanet36 C535487
ICD10 via Orphanet26 Q93.2
UMLS via Orphanet62 C2930916

Related Diseases for Ring Chromosome 14

Sources:
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

Drugs & Therapeutics for Ring Chromosome 14

Sources:
5CenterWatch, 42NIH 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

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Genetic Tests for Ring Chromosome 14

Anatomical Context for Ring Chromosome 14

Animal Models for Ring Chromosome 14 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Ring Chromosome 14

Genetic Variations for Ring Chromosome 14

Expression for genes affiliated with Ring Chromosome 14

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

Compounds for genes affiliated with Ring Chromosome 14

GO Terms for genes affiliated with Ring Chromosome 14

Products for genes affiliated with Ring Chromosome 14

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ring Chromosome 14

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet