MCID: RNG029
MIFTS: 31

Ring Chromosome 14 Syndrome

Categories: Eye diseases, Fetal diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 14 Syndrome

MalaCards integrated aliases for Ring Chromosome 14 Syndrome:

Name: Ring Chromosome 14 Syndrome 56 52 25 58 71
Ring Chromosome 14 52 25 58 29
Ring 14 52 25 58
Chromosome 14 Ring 52
Ring 14 Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
ring chromosome 14 syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
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:

31
ring chromosome 14 syndrome:
Onset and clinical course infantile onset
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 616606
MESH via Orphanet 44 C535487
ICD10 via Orphanet 33 Q93.2
UMLS via Orphanet 72 C2930916
Orphanet 58 ORPHA1440
MedGen 41 C2930916
UMLS 71 C2930916

Summaries for Ring Chromosome 14 Syndrome

NIH Rare Diseases : 52 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 ring chromosome and microcephaly. An important gene associated with Ring Chromosome 14 Syndrome is RC14S (Ring Chromosome 14 Syndrome). Affiliated tissues include eye, retina and brain, and related phenotypes are pigmentary retinopathy and intellectual disability

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. Additional features of ring chromosome 14 syndrome can include slow growth and short stature, a small head (microcephaly), puffy hands and/or feet caused by a buildup of fluid (lymphedema), and subtle differences in facial features. Some affected individuals have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Abnormalities of the retina, the specialized tissue at the back of the eye that detects light and color, have also been reported in some people with this condition. These changes typically do not affect vision. Major birth defects are rarely seen with ring chromosome 14 syndrome.

OMIM : 56 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)

Wikipedia : 74 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

Diseases in the Ring Chromosome 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
Ring Chromosome Y Syndrome

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 10.3
2 microcephaly 10.1
3 visual epilepsy 10.0
4 epilepsy 10.0
5 seizure disorder 10.0
6 autism 10.0
7 infertility 10.0
8 epicanthus 9.9
9 status epilepticus 9.9
10 focal epilepsy 9.9
11 hypotonia 9.9
12 strabismus 9.9
13 mechanical strabismus 9.9
14 arbitrary restriction polymorphism 1 9.8
15 coarctation of aorta 9.8
16 coloboma of macula 9.8
17 dowling-degos disease 1 9.8
18 retinitis pigmentosa 9.8
19 taurodontism 9.8
20 retinitis pigmentosa 11 9.8
21 cyanosis, transient neonatal 9.8
22 alacrima, achalasia, and mental retardation syndrome 9.8
23 scoliosis 9.8
24 ptosis 9.8
25 neuroretinitis 9.8
26 blepharophimosis 9.8
27 varicocele 9.8
28 quadriplegia 9.8
29 oligospermia 9.8
30 cystic lymphangioma 9.8
31 retinitis 9.8
32 alopecia 9.8
33 47,xyy 9.8
34 chromosomal triplication 9.8
35 foxg1 syndrome 9.8
36 brachydactyly 9.7
37 microphthalmia 9.7
38 refractive error 9.7
39 ring chromosome 13 9.7
40 cerebral atrophy 9.7
41 hypertonia 9.7

Graphical network of the top 20 diseases related to Ring Chromosome 14 Syndrome:



Diseases related to Ring Chromosome 14 Syndrome

Symptoms & Phenotypes for Ring Chromosome 14 Syndrome

Human phenotypes related to Ring Chromosome 14 Syndrome:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 pigmentary retinopathy 31 occasional (7.5%) HP:0000580
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 depressed nasal bridge 31 HP:0005280
5 hypertelorism 31 HP:0000316
6 short neck 31 HP:0000470
7 microcephaly 31 HP:0000252
8 anteverted nares 31 HP:0000463
9 growth delay 31 HP:0001510
10 high palate 31 HP:0000218
11 low-set ears 31 HP:0000369
12 epicanthus 31 HP:0000286
13 dolichocephaly 31 HP:0000268
14 downslanted palpebral fissures 31 HP:0000494
15 flat occiput 31 HP:0005469
16 status epilepticus 31 HP:0002133
17 generalized hypotonia 31 HP:0001290
18 poor speech 31 HP:0002465

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
status epilepticus
poor speech
delayed psychomotor development
seizures, severe, prolonged, refractory
more
Head And Neck Neck:
short neck

Head And Neck Ears:
low-set ears

Head And Neck Nose:
anteverted nostrils
flat nasal bridge

Growth Other:
poor growth

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

Head And Neck Head:
microcephaly
dolichocephaly
flat occiput

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
high-arched palate

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

Clinical features from OMIM:

616606

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:

40
Eye, Retina, Brain, Heart

Publications for Ring Chromosome 14 Syndrome

Articles related to Ring Chromosome 14 Syndrome:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients. 61 56
24116895 2013
2
Partial epilepsy and developmental delay in infant with ring chromosome 14. 61 56
23610869 2013
3
Microcephaly with chorioretinal degeneration. 56 61
9587928 1998
4
Transmission of ring 14 chromosome from mother to two sons. 56 61
2202211 1990
5
Ring chromosome 14: a distinct clinical entity. 61 56
7277427 1981
6
Ring chromosome 14 in a mentally retarded girl. 56 61
7211367 1980
7
Multimodal imaging of ring 14 syndrome associated maculopathy. 61
31755799 2019
8
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force. 61
28399932 2017
9
Enamel Pit Defects and Taurodontism in a Patient with Ring Chromosome 14 and 47,XXX. 61
28387189 2017
10
Position effect modifying gene expression in a patient with ring chromosome 14. 61
26315457 2016
11
Dysregulation of FOXG1 by ring chromosome 14. 61
25901181 2015
12
A Case of Autism with Ring Chromosome 14. 61
26171345 2013
13
Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report. 61
24382541 2013
14
[The effectiveness of lamotrigine in a case of ring chromosome 14 with refractory epilepsy]. 61
24205694 2013
15
Epilepsy in ring 14 chromosome syndrome. 61
23159383 2012
16
A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome. 61
22488736 2012
17
Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14. 61
23198189 2012
18
Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14. 61
20979193 2010
19
Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome. 61
20643614 2010
20
Ring chromosome 14 mosaicism: an unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH. 61
20034090 2010
21
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism. 61
18414512 2008
22
Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia. 61
18186139 2008
23
Mosaic trisomy r(14) associated with epilepsy and mental retardation. 61
17715281 2007
24
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. 61
17342151 2007
25
Supernumerary minute ring chromosome 14 in a man with primary infertility and left varicocele. 61
17208235 2007
26
Ring chromosome 14 with epilepsy and development delay. 61
16951445 2006
27
FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures. 61
16152642 2005
28
[Ring chromosome 14 syndrome: a case report]. 61
15733381 2004
29
Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis. 61
15366814 2004
30
Ring chromosome 14 with localization-related epilepsy: three cases. 61
12919399 2003
31
Further delineation of the chromosome 14q terminal deletion syndrome. 61
12116274 2002
32
Prenatal diagnosis of a mosaic extra structurally abnormal chromosome by spectral karyotyping. 61
10360520 1999
33
Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum. 61
10029266 1999
34
Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p. 61
9880206 1998
35
[Ring chromosome 14: report of a new case]. 61
9662854 1998
36
Delineation of 14q32.3 deletion syndrome. 61
9192277 1997
37
Prenatal diagnosis of ring chromosome 14 after intracytoplasmic sperm injection. 61
8986702 1997
38
Molecular analysis redefines three human chromosome 14 deletions. 61
7759068 1995
39
[Epilepsy in a child with ring chromosome 14]. 61
8502366 1993
40
[The ring chromosome 14 syndrome]. 61
1462428 1992
41
[Ring chromosome 14]. 61
1381073 1992
42
Localization and genetic linkage of the human immunoglobulin heavy chain genes and the creatine kinase brain (CKB) gene: identification of a hot spot for recombination. 61
1674725 1991
43
Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review. 61
1746891 1991
44
Molecular characterization of a ring chromosome 14 showing that the PI locus is centromeric to the D14S1 and IGH loci. 61
2543620 1989
45
[Epilepsy in ring chromosome 14 syndrome]. 61
2597013 1989
46
A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation. 61
2918542 1989
47
Ring chromosome 14 without deletion. 61
3620197 1987
48
Ocular findings in a patient with deletion short arm chromosome 5 (cri du chat) and ring chromosome 14. 61
3477901 1986
49
De novo reciprocal translocation t(6;14)(q27;q13.3) in a child with infantile spasms. 61
4006889 1985
50
[2 new cases of ring chromosome 14]. 61
4026139 1985

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

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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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