MCID: RNG029
MIFTS: 21

Ring Chromosome 14 Syndrome malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome 14 Syndrome

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Sources:
25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ring Chromosome 14 Syndrome:

Name: Ring Chromosome 14 Syndrome 52 48 25 68
Ring Chromosome 14 48 25 54
Chromosome 14 Ring 48 27
 
Ring 14 48 25
Ring 14 Syndrome 25

Characteristics:

Orphanet epidemiological data:

54
ring chromosome 14:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
ring chromosome 14 syndrome:
Onset and clinical course: infantile onset
Inheritance: sporadic

Classifications:



External Ids:

OMIM52 616606
Orphanet54 ORPHA1440
UMLS via Orphanet69 C2930916
ICD10 via Orphanet31 Q93.2
MESH via Orphanet40 C535487

Summaries for Ring Chromosome 14 Syndrome

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Genetics Home Reference:25 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 high palate, microcephaly and dolichocephaly. An important gene associated with Ring Chromosome 14 Syndrome is RC14S (Ring Chromosome 14 Syndrome).

OMIM:52 Ring chromosome 14 syndrome is characterized by early-onset epilepsy, developmental delay with mental retardation and... (616606) more...

Wikipedia:71 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 & Phenotypes for Ring Chromosome 14 Syndrome

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Symptoms by clinical synopsis from OMIM:

616606

Clinical features from OMIM:

616606

Human phenotypes related to Ring Chromosome 14 Syndrome:

 64 (show all 18)
id Description HPO Frequency HPO Source Accession
1 high palate64 HP:0000218
2 microcephaly64 HP:0000252
3 dolichocephaly64 HP:0000268
4 epicanthus64 HP:0000286
5 hypertelorism64 HP:0000316
6 low-set ears64 HP:0000369
7 anteverted nares64 HP:0000463
8 short neck64 HP:0000470
9 downslanted palpebral fissures64 HP:0000494
10 pigmentary retinopathy64 HP:0000580
11 intellectual disability64 HP:0001249
12 muscular hypotonia64 HP:0001252
13 global developmental delay64 HP:0001263
14 growth delay64 HP:0001510
15 status epilepticus64 HP:0002133
16 poor speech64 HP:0002465
17 depressed nasal bridge64 HP:0005280
18 flat occiput64 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 1427

Anatomical Context for Ring Chromosome 14 Syndrome

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet