MCID: RNG009
MIFTS: 20

Ring Chromosome 14 malady

Rare diseases, Neuronal diseases, Fetal diseases categories

Summaries for Ring Chromosome 14

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Sources:
22Genetics Home Reference, 66Wikipedia, 34MalaCards
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Genetics Home Reference:22 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. Affiliated tissues include heart.

Wikipedia:66 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:
44NIH Rare Diseases, 22Genetics Home Reference, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
ring chromosome 14:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

ring chromosome 14 44 22 50
ring chromosome 14 syndrome 44 22
chromosome 14 ring 44 63
ring 14 44 22
ring 14 syndrome 22


External Ids:

MESH via Orphanet37 C535487
ICD10 via Orphanet27 Q93.2
UMLS via Orphanet64 C2930916

Related Diseases for Ring Chromosome 14

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Ring Chromosome 14:



Diseases related to ring chromosome 14

Symptoms for Ring Chromosome 14

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Drugs & Therapeutics for Ring Chromosome 14

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Ring Chromosome 14:

34
Heart

Animal Models for Ring Chromosome 14 or affiliated genes

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Publications for Ring Chromosome 14

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53PubMed
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Articles related to Ring Chromosome 14:

(show all 23)
idTitleAuthorsYear
1
Partial epilepsy and developmental delay in infant with ring chromosome 14. (23610869)
2013
2
Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report. (24382541)
2013
3
Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14. (23198189)
2012
4
Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome. (20643614)
2010
5
Ring chromosome 14 mosaicism: an unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH. (20034090)
2010
6
Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14. (20979193)
2010
7
Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia. (18186139)
2008
8
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism. (18414512)
2008
9
Supernumerary minute ring chromosome 14 in a man with primary infertility and left varicocele. (17208235)
2007
10
Ring chromosome 14 with epilepsy and development delay. (16951445)
2006
11
Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis. (15366814)
2004
12
Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum. (10029266)
1999
13
Prenatal diagnosis of ring chromosome 14 after intracytoplasmic sperm injection. (8986702)
1997
14
Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review. (1746891)
1991
15
Molecular characterization of a ring chromosome 14 showing that the PI locus is centromeric to the D14S1 and IGH loci. (2543620)
1989
16
Ring chromosome 14 without deletion. (3620197)
1987
17
Ocular findings in a patient with deletion short arm chromosome 5 (cri du chat) and ring chromosome 14. (3477901)
1986
18
Ring chromosome 14 and immunoglobulin locus. (6702898)
1984
19
Ring chromosome 14. A distinct clinical entity. (6674412)
1983
20
Ring chromosome 14 syndrome. (6982671)
1982
21
Ring chromosome 14: a distinct clinical entity. (7277427)
1981
22
Infant male with ring chromosome 14. (6977306)
1981
23
Ring chromosome 14 in a mentally retarded girl. (7211367)
1980

Variations for Ring Chromosome 14

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Expression for genes affiliated with Ring Chromosome 14

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Sources:
16Gene 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
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  • Antibodies

Sources for Ring Chromosome 14

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet