MCID: RNG029
MIFTS: 22

Ring Chromosome 14 Syndrome malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome 14 Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 24Genetics Home Reference, 66UMLS, 52Orphanet, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ring Chromosome 14 Syndrome:

Name: Ring Chromosome 14 Syndrome 50 46 24 66
Ring Chromosome 14 46 24 52
Chromosome 14 Ring 46 25
 
Ring 14 46 24
Ring 14 Syndrome 24

Characteristics:

Orphanet epidemiological data:

52
ring chromosome 14:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

OMIM50 616606
Orphanet52 ORPHA1440
ICD10 via Orphanet29 Q93.2
MESH via Orphanet38 C535487
UMLS via Orphanet67 C2930916

Summaries for Ring Chromosome 14 Syndrome

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Genetics Home Reference:24 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 Syndrome, also known as ring chromosome 14, is related to epilepsy and status epilepticus, and has symptoms including pigmentary retinopathy, high palate and microcephaly. An important gene associated with Ring Chromosome 14 Syndrome is RC14S (Ring Chromosome 14 Syndrome).

OMIM:50 Ring chromosome 14 syndrome is characterized by early-onset epilepsy, developmental delay with mental retardation and... (616606) more...

Wikipedia:69 Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of... more...

Related Diseases for Ring Chromosome 14 Syndrome

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Symptoms for Ring Chromosome 14 Syndrome

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Symptoms by clinical synopsis from OMIM:

616606

Clinical features from OMIM:

616606

HPO human phenotypes related to Ring Chromosome 14 Syndrome:

(show all 18)
id Description Frequency HPO Source Accession
1 pigmentary retinopathy rare (5%) HP:0000580
2 high palate HP:0000218
3 microcephaly HP:0000252
4 dolichocephaly HP:0000268
5 epicanthus HP:0000286
6 hypertelorism HP:0000316
7 low-set ears HP:0000369
8 anteverted nares HP:0000463
9 short neck HP:0000470
10 downslanted palpebral fissures HP:0000494
11 intellectual disability HP:0001249
12 muscular hypotonia HP:0001252
13 global developmental delay HP:0001263
14 growth delay HP:0001510
15 status epilepticus HP:0002133
16 poor speech HP:0002465
17 depressed nasal bridge HP:0005280
18 flat occiput HP:0005469

Drugs & Therapeutics for Ring Chromosome 14 Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ring Chromosome 14 Syndrome

Genetic Tests for Ring Chromosome 14 Syndrome

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Genetic tests related to Ring Chromosome 14 Syndrome:

id Genetic test Affiliating Genes
1 Ring Chromosome 1425

Anatomical Context for Ring Chromosome 14 Syndrome

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Animal Models for Ring Chromosome 14 Syndrome or affiliated genes

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Publications for Ring Chromosome 14 Syndrome

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Articles related to Ring Chromosome 14 Syndrome:

idTitleAuthorsYear
1
Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report. (24382541)
2013
2
Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome. (20643614)
2010
3
Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review. (1746891)
1991
4
Ring chromosome 14 syndrome. (6982671)
1982

Variations for Ring Chromosome 14 Syndrome

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Expression for genes affiliated with Ring Chromosome 14 Syndrome

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Search GEO for disease gene expression data for Ring Chromosome 14 Syndrome.

Pathways for genes affiliated with Ring Chromosome 14 Syndrome

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GO Terms for genes affiliated with Ring Chromosome 14 Syndrome

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Sources for Ring Chromosome 14 Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet