MCID: RNG029
MIFTS: 21

Ring Chromosome 14 Syndrome malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome 14 Syndrome

Aliases & Descriptions for Ring Chromosome 14 Syndrome:

Name: Ring Chromosome 14 Syndrome 54 50 25 69
Ring Chromosome 14 50 25 56
Chromosome 14 Ring 50 29
Ring 14 50 25
Ring 14 Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
ring chromosome 14
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
ring chromosome 14 syndrome:
Onset and clinical course infantile onset
Inheritance sporadic


Classifications:



External Ids:

OMIM 54 616606
Orphanet 56 ORPHA1440
UMLS via Orphanet 70 C2930916
ICD10 via Orphanet 34 Q93.2
MESH via Orphanet 43 C535487

Summaries for Ring Chromosome 14 Syndrome

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 hypertelorism, low-set ears and short neck. An important gene associated with Ring Chromosome 14 Syndrome is RC14S (Ring Chromosome 14 Syndrome).

OMIM : 54 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

Symptoms & Phenotypes for Ring Chromosome 14 Syndrome

Symptoms by clinical synopsis from OMIM:

616606

Clinical features from OMIM:

616606

Human phenotypes related to Ring Chromosome 14 Syndrome:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 high palate 32 HP:0000218
5 intellectual disability 32 HP:0001249
6 muscular hypotonia 32 HP:0001252
7 global developmental delay 32 HP:0001263
8 depressed nasal bridge 32 HP:0005280
9 microcephaly 32 HP:0000252
10 anteverted nares 32 HP:0000463
11 epicanthus 32 HP:0000286
12 dolichocephaly 32 HP:0000268
13 growth delay 32 HP:0001510
14 downslanted palpebral fissures 32 HP:0000494
15 flat occiput 32 HP:0005469
16 status epilepticus 32 HP:0002133
17 pigmentary retinopathy 32 HP:0000580
18 poor speech 32 HP:0002465

Drugs & Therapeutics for Ring Chromosome 14 Syndrome

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 14 Syndrome

Genetic Tests for Ring Chromosome 14 Syndrome

Genetic tests related to Ring Chromosome 14 Syndrome:

id Genetic test Affiliating Genes
1 Ring Chromosome 14 29

Anatomical Context for Ring Chromosome 14 Syndrome

Publications for Ring Chromosome 14 Syndrome

Articles related to Ring Chromosome 14 Syndrome:

id Title Authors Year
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

Expression for Ring Chromosome 14 Syndrome

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

Pathways for Ring Chromosome 14 Syndrome

GO Terms for Ring Chromosome 14 Syndrome

Sources for Ring Chromosome 14 Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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