MCID: RNG009
MIFTS: 21

Ring Chromosome 14 malady

Rare diseases, Neuronal diseases, Fetal diseases categories
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Summaries for Ring Chromosome 14

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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 based summary: Ring Chromosome 14, also known as ring chromosome 14 syndrome, is related to status epilepticus and infertility. Affiliated tissues include heart.

Wikipedia:65 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, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Ring Chromosome 14, Aliases & Descriptions:

Name: Ring Chromosome 14 42 21 48
Ring Chromosome 14 Syndrome 42 21 62
Ring 14 42 21 62
 
Chromosome 14 Ring 42 62
Ring 14 Syndrome 21 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

MESH via Orphanet35 C535487
ICD10 via Orphanet26 Q93.2
UMLS via Orphanet63 C2930916

Related Diseases for Ring Chromosome 14

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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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Drug clinical trials:

Search ClinicalTrials for Ring Chromosome 14

Search NIH Clinical Center for Ring Chromosome 14

Genetic Tests for Ring Chromosome 14

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Anatomical Context for Ring Chromosome 14

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MalaCards organs/tissues related to Ring Chromosome 14:

32
Heart

Animal Models for Ring Chromosome 14 or affiliated genes

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Publications for Ring Chromosome 14

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Articles related to Ring Chromosome 14:

(show all 24)
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 with localization-related epilepsy: three cases. (12919399)
2003
13
Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum. (10029266)
1999
14
Prenatal diagnosis of ring chromosome 14 after intracytoplasmic sperm injection. (8986702)
1997
15
Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review. (1746891)
1991
16
Molecular characterization of a ring chromosome 14 showing that the PI locus is centromeric to the D14S1 and IGH loci. (2543620)
1989
17
Ring chromosome 14 without deletion. (3620197)
1987
18
Ocular findings in a patient with deletion short arm chromosome 5 (cri du chat) and ring chromosome 14. (3477901)
1986
19
Ring chromosome 14 and immunoglobulin locus. (6702898)
1984
20
Ring chromosome 14. A distinct clinical entity. (6674412)
1983
21
Ring chromosome 14 syndrome. (6982671)
1982
22
Ring chromosome 14: a distinct clinical entity. (7277427)
1981
23
Infant male with ring chromosome 14. (6977306)
1981
24
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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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
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet