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

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Monosomies and deletions from the autosomes, not elsewhere classified

Chromosome replaced with ring or dicentric

Orphanet: ⁵⁶

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁴ 616606

Orphanet ⁵⁶ ORPHA1440

UMLS via Orphanet ⁷⁰ C2930916

ICD10 via Orphanet ³⁴ Q93.2

MESH via Orphanet ⁴³ C535487

Sources

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...

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Related Diseases for Ring Chromosome 14 Syndrome

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

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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 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

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Drugs & Therapeutics for Ring Chromosome 14 Syndrome

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

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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

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Anatomical Context for Ring Chromosome 14 Syndrome

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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 )	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

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Genes for Ring Chromosome 14 Syndrome

Genes related to Ring Chromosome 14 Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	RC14S	Ring Chromosome 14 Syndrome	519.26	Structural variation ⁵⁴ GeneCards inferred via : Disorders Gene name (show sections)

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Variations for Ring Chromosome 14 Syndrome

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Expression for Ring Chromosome 14 Syndrome

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

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Pathways for Ring Chromosome 14 Syndrome

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GO Terms for Ring Chromosome 14 Syndrome

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Sources for Ring Chromosome 14 Syndrome

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Ring Chromosome 14 Syndrome malady

Aliases & Classifications for Ring Chromosome 14 Syndrome

Aliases & Descriptions for Ring Chromosome 14 Syndrome:

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Ring Chromosome 14 Syndrome

Related Diseases for Ring Chromosome 14 Syndrome

Diseases in the Ring Chromosome Y family:

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

Symptoms & Phenotypes for Ring Chromosome 14 Syndrome

Symptoms by clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Ring Chromosome 14 Syndrome:

Drugs & Therapeutics for Ring Chromosome 14 Syndrome

Genetic Tests for Ring Chromosome 14 Syndrome

Genetic tests related to Ring Chromosome 14 Syndrome:

Anatomical Context for Ring Chromosome 14 Syndrome

Publications for Ring Chromosome 14 Syndrome

Articles related to Ring Chromosome 14 Syndrome:

Genes for Ring Chromosome 14 Syndrome

Genes related to Ring Chromosome 14 Syndrome (1 elite genes):

Variations for Ring Chromosome 14 Syndrome

Expression for Ring Chromosome 14 Syndrome

Pathways for Ring Chromosome 14 Syndrome

GO Terms for Ring Chromosome 14 Syndrome

Sources for Ring Chromosome 14 Syndrome