MCID: RNG029
MIFTS: 26

Ring Chromosome 14 Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome 14 Syndrome

MalaCards integrated aliases for Ring Chromosome 14 Syndrome:

Name: Ring Chromosome 14 Syndrome 57 53 25 59 73
Ring Chromosome 14 53 25 59 29
Ring 14 53 25 59
Chromosome 14 Ring 53
Ring 14 Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
ring chromosome 14 syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Miscellaneous:
onset in infancy
one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons

Inheritance:
isolated cases


HPO:

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


Classifications:



External Ids:

OMIM 57 616606
Orphanet 59 ORPHA1440
UMLS via Orphanet 74 C2930916
ICD10 via Orphanet 34 Q93.2
MESH via Orphanet 45 C535487
MedGen 42 C2930916
UMLS 73 C2930916

Summaries for Ring Chromosome 14 Syndrome

NIH Rare Diseases : 53 Ring chromosome 14 is a rare chromosome abnormality that causes ring chromosome 14 syndrome (written as r(14) syndrome), which affects many parts of the body. Signs and symptoms of r(14) syndrome vary from person to person but often include distinctive facial features, developmental delay and intellectual disability, autism spectrum disorder, intractable (hard to control) epilepsy, and occasional eye and vision abnormalities. Intellectual disability ranges from moderate to severe, likely depending on the severity of seizures and age they begin (earlier onset is associated with more severe disability). Severity and frequency of seizures may improve over time. Other signs and symptoms may include a small head size (microcephaly), low muscle tone (hypotonia), scoliosis, and increased susceptibility to infections. Ring chromosomes almost always occur sporadically (by chance), occurring for the first time in people with no family history of chromosome disorders. In these cases, it occurs as a random event when egg or sperm cells are formed, or very soon after the egg and sperm join together. Researchers believe that several important genes near the end of the long arm of chromosome 14 are lost (deleted) when the ring forms, likely leading to some of the features of r(14) syndrome. Management depends on the symptoms in each person and often requires a team of specialists to address each medical issue. Because symptoms and severity can vary, the long-term outlook (prognosis) is difficult to predict and depends mainly on the health issues present and complications that may arise.

MalaCards based summary : Ring Chromosome 14 Syndrome, also known as ring chromosome 14, is related to epilepsy and status epilepticus. An important gene associated with Ring Chromosome 14 Syndrome is RC14S (Ring Chromosome 14 Syndrome). Affiliated tissues include eye, and related phenotypes are high palate and microcephaly

OMIM : 57 Ring chromosome 14 syndrome is characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features. Additional variable features include hypotonia and retinopathy (summary by Imataka et al., 2013 and Giovannini et al., 2013). (616606)

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.

Wikipedia : 76 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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds
pigmentary retinopathy (in some patients)

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly
dolichocephaly
flat occiput

Muscle Soft Tissue:
hypotonia

Growth Other:
poor growth

Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
intellectual disability
status epilepticus
poor speech
delayed psychomotor development
seizures, severe, prolonged, refractory
more
Head And Neck Nose:
anteverted nostrils
flat nasal bridge

Head And Neck Mouth:
high-arched palate

Skin Nails Hair Skin:
pigmentary abnormalities (in some patients)


Clinical features from OMIM:

616606

Human phenotypes related to Ring Chromosome 14 Syndrome:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 microcephaly 32 HP:0000252
3 dolichocephaly 32 HP:0000268
4 epicanthus 32 HP:0000286
5 hypertelorism 32 HP:0000316
6 low-set ears 32 HP:0000369
7 anteverted nares 32 HP:0000463
8 short neck 32 HP:0000470
9 downslanted palpebral fissures 32 HP:0000494
10 pigmentary retinopathy 32 occasional (7.5%) HP:0000580
11 intellectual disability 32 HP:0001249
12 global developmental delay 32 HP:0001263
13 generalized hypotonia 32 HP:0001290
14 growth delay 32 HP:0001510
15 status epilepticus 32 HP:0002133
16 poor speech 32 HP:0002465
17 depressed nasal bridge 32 HP:0005280
18 flat occiput 32 HP:0005469

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:

# Genetic test Affiliating Genes
1 Ring Chromosome 14 29

Anatomical Context for Ring Chromosome 14 Syndrome

MalaCards organs/tissues related to Ring Chromosome 14 Syndrome:

41
Eye

Publications for Ring Chromosome 14 Syndrome

Articles related to Ring Chromosome 14 Syndrome:

# 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
[Epilepsy in ring chromosome 14 syndrome]. ( 2597013 )
1989
5
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....