MCID: RNG029
MIFTS: 24

Ring Chromosome 14 Syndrome malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome 14 Syndrome

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Sources:
49OMIM, 45NIH Rare Diseases, 23Genetics Home Reference, 65UMLS, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ring Chromosome 14 Syndrome:

Name: Ring Chromosome 14 Syndrome 49 45 23 65
Ring Chromosome 14 45 23 51
Chromosome 14 Ring 45 24
 
Ring 14 45 23
Ring 14 Syndrome 23

Characteristics:

Orphanet epidemiological data:

51
ring chromosome 14:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

OMIM49 616606
Orphanet51 1440
ICD10 via Orphanet28 Q93.2
MESH via Orphanet37 C535487
UMLS via Orphanet66 C2930916
UMLS65 C2930916

Summaries for Ring Chromosome 14 Syndrome

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Genetics Home Reference:23 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 colorectal cancer and lung cancer, 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). Affiliated tissues include thyroid and breast.

OMIM:49 Ring chromosome 14 syndrome is characterized by early-onset epilepsy, developmental delay with mental retardation and... (616606) more...

Wikipedia:68 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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Anatomical Context for Ring Chromosome 14 Syndrome

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MalaCards organs/tissues related to Ring Chromosome 14 Syndrome:

33
Thyroid, Breast

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
Urokinase-type plasminogen activator system and breast cancer (Review). (15944776)
2005
2
Orphan kinesin NOD lacks motile properties but does possess a microtubule-stimulated ATPase activity. (11739796)
2001
3
Genetic and epigenetic alterations of the cyclin-dependent kinase inhibitors p15INK4b and p16INK4a in human thyroid carcinoma cell lines and primary thyroid carcinomas. (9827724)
1998
4
NCCN pediatric osteosarcoma practice guidelines. The National Comprehensive Cancer Network. (8985965)
1996

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet