Ring Chromosome 14 Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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Diseases in the Ring Chromosome Y family:

ring chromosome 14 syndrome	Ring Chromosome 1
Ring Chromosome 10	Ring Chromosome 11
Ring Chromosome 12	Ring Chromosome 13
Ring Chromosome 15	Ring Chromosome 16
Ring Chromosome 17	Ring Chromosome 18
Ring Chromosome 19	Ring Chromosome 2
Ring Chromosome 20	Ring Chromosome 21
Ring Chromosome 22	Ring Chromosome 3
Ring Chromosome 4	Ring Chromosome 5
Ring Chromosome 6	Ring Chromosome 7
Ring Chromosome 8	Ring Chromosome 9

Diseases related to Ring Chromosome 14 Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id	Related Disease	Score
1	epilepsy	9.9
2	status epilepticus	9.7
3	microphthalmia	9.5

Symptoms & Phenotypes for Ring Chromosome 14 Syndrome

Sources:
⁵²OMIM, ⁶⁴The Human Phenotype Ontology
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Symptoms by clinical synopsis from OMIM:

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Clinical features from OMIM:

616606

Human phenotypes related to Ring Chromosome 14 Syndrome:

⁶⁴ (show all 18)

id	Description	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

Sources:
⁴ClinicalTrials
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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ring Chromosome 14 Syndrome

Genetic Tests for Ring Chromosome 14 Syndrome

Sources:
²⁷GTR
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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

Publications for Ring Chromosome 14 Syndrome

Sources:
⁵⁷PubMed
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Articles related to Ring Chromosome 14 Syndrome:

id	Title	Authors	Year
1	Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report. (24382541)	Incecik F.... AltunbaA9ak S.	2013
2	Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome. (20643614)	Giovannini S.... Gobbi G.	2010
3	Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review. (1746891)	Zelante L.... Dallapiccola B.	1991
4	Ring chromosome 14 syndrome. (6982671)	Fryns J.P.... ven den Berghe H.	1982