MCID: RNG029
MIFTS: 21

Ring Chromosome 14 Syndrome malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome 14 Syndrome

About this section
Sources:
25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ring Chromosome 14 Syndrome:

Name: Ring Chromosome 14 Syndrome 51 47 25 67
Ring Chromosome 14 47 25 53
Chromosome 14 Ring 47 26
 
Ring 14 47 25
Ring 14 Syndrome 25

Characteristics:

Orphanet epidemiological data:

53
ring chromosome 14:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

OMIM51 616606
Orphanet53 ORPHA1440
UMLS via Orphanet68 C2930916
ICD10 via Orphanet30 Q93.2
MESH via Orphanet39 C535487

Summaries for Ring Chromosome 14 Syndrome

About this section
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 pigmentary retinopathy, high palate and microcephaly. An important gene associated with Ring Chromosome 14 Syndrome is RC14S (Ring Chromosome 14 Syndrome).

OMIM:51 Ring chromosome 14 syndrome is characterized by early-onset epilepsy, developmental delay with mental retardation and... (616606) more...

Wikipedia:70 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

About this section

Symptoms for Ring Chromosome 14 Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

616606

Clinical features from OMIM:

616606

Human phenotypes related to Ring Chromosome 14 Syndrome:

 63 (show all 18)
id Description HPO Frequency HPO Source Accession
1 pigmentary retinopathy63 rare (5%) HP:0000580
2 high palate63 HP:0000218
3 microcephaly63 HP:0000252
4 dolichocephaly63 HP:0000268
5 epicanthus63 HP:0000286
6 hypertelorism63 HP:0000316
7 low-set ears63 HP:0000369
8 anteverted nares63 HP:0000463
9 short neck63 HP:0000470
10 downslanted palpebral fissures63 HP:0000494
11 intellectual disability63 HP:0001249
12 muscular hypotonia63 HP:0001252
13 global developmental delay63 HP:0001263
14 growth delay63 HP:0001510
15 status epilepticus63 HP:0002133
16 poor speech63 HP:0002465
17 depressed nasal bridge63 HP:0005280
18 flat occiput63 HP:0005469

Drugs & Therapeutics for Ring Chromosome 14 Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ring Chromosome 14 Syndrome

Genetic Tests for Ring Chromosome 14 Syndrome

About this section

Genetic tests related to Ring Chromosome 14 Syndrome:

id Genetic test Affiliating Genes
1 Ring Chromosome 1426

Anatomical Context for Ring Chromosome 14 Syndrome

About this section

Animal Models for Ring Chromosome 14 Syndrome or affiliated genes

About this section

Publications for Ring Chromosome 14 Syndrome

About this section

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

About this section

Expression for genes affiliated with Ring Chromosome 14 Syndrome

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

Pathways for genes affiliated with Ring Chromosome 14 Syndrome

About this section

GO Terms for genes affiliated with Ring Chromosome 14 Syndrome

About this section

Sources for Ring Chromosome 14 Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet