R15
MCID: RNG010
MIFTS: 25

Ring Chromosome 15 (R15)

Categories: Ear diseases, Eye diseases, Fetal diseases, Immune diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Ring Chromosome 15

MalaCards integrated aliases for Ring Chromosome 15:

Name: Ring Chromosome 15 20 58 29
Ring Chromosome 15 Syndrome 58 70
Chromosome 15 Ring 20 70
Ring 15 20 58
R15 20

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C538035
ICD10 via Orphanet 33 Q93.2
UMLS via Orphanet 71 C2931703
Orphanet 58 ORPHA96177
UMLS 70 C0795855 C2931703

Summaries for Ring Chromosome 15

GARD : 20 Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature ; varying degrees of intellectual disability ; low muscle tone ( hypotonia ); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss ( deletion ) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous ( de novo ) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.

MalaCards based summary : Ring Chromosome 15, also known as ring chromosome 15 syndrome, is related to insulin-like growth factor i and muscular dystrophy-dystroglycanopathy , type c, 3. An important gene associated with Ring Chromosome 15 is IGF1R (Insulin Like Growth Factor 1 Receptor). The drugs Clarithromycin and Erythromycin have been mentioned in the context of this disorder.

Wikipedia : 73 Ring chromosome 15 (sometimes denoted as r15) is a condition that arises when chromosome 15 fuses to... more...

Related Diseases for Ring Chromosome 15

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 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 insulin-like growth factor i 11.3
2 muscular dystrophy-dystroglycanopathy , type c, 3 11.3
3 ring chromosome 10.7
4 microcephaly 10.4
5 hypertelorism 10.2
6 alacrima, achalasia, and mental retardation syndrome 10.2
7 argyria 10.1
8 portal hypertension 10.1
9 liver disease 10.1
10 dowling-degos disease 1 10.0
11 acid-labile subunit deficiency 10.0
12 hypotonia 10.0
13 atrial standstill 1 10.0
14 hepatocellular carcinoma 10.0
15 human herpesvirus 8 10.0
16 dilated cardiomyopathy 10.0
17 angelman syndrome 9.9
18 diaphragmatic hernia, congenital 9.9
19 marfan syndrome 9.9
20 prader-willi syndrome 9.9
21 silver-russell syndrome 1 9.9
22 strabismus 9.9
23 down syndrome 9.9
24 cryptorchidism, unilateral or bilateral 9.9
25 fryns syndrome 9.9
26 brachydactyly 9.9
27 scoliosis 9.9
28 umbilical hernia 9.9
29 alternating exotropia 9.9
30 exotropia 9.9
31 ventricular septal defect 9.9
32 heart septal defect 9.9
33 phimosis 9.9
34 neurofibromatosis 9.9
35 mechanical strabismus 9.9
36 diencephalic syndrome 9.9
37 dwarfism 9.9
38 penis agenesis 9.9
39 muscular dystrophy, becker type 9.9
40 aging 9.9
41 helix syndrome 9.9
42 hepatic coma 9.9
43 hepatic encephalopathy 9.9
44 liver cirrhosis 9.9
45 muscular dystrophy 9.9
46 encephalopathy 9.9
47 endometrial cancer 9.7
48 ectopic pregnancy 9.7

Graphical network of the top 20 diseases related to Ring Chromosome 15:



Diseases related to Ring Chromosome 15

Symptoms & Phenotypes for Ring Chromosome 15

Drugs & Therapeutics for Ring Chromosome 15

Drugs for Ring Chromosome 15 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clarithromycin Approved Phase 4 81103-11-9 84029
2
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
3
Azithromycin Approved Phase 4 83905-01-5 447043 55185
4 Antibiotics, Antitubercular Phase 4
5 Erythromycin Estolate Phase 4
6 Erythromycin stearate Phase 4
7 Anti-Bacterial Agents Phase 4
8 Erythromycin Ethylsuccinate Phase 4
9 Anti-Infective Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Azithromycin or Clarithromycin in 3drugs Protocol of H-pylori Eradication Regimen Completed NCT01667692 Phase 4 azithromycin;clarithmycin

Search NIH Clinical Center for Ring Chromosome 15

Genetic Tests for Ring Chromosome 15

Genetic tests related to Ring Chromosome 15:

# Genetic test Affiliating Genes
1 Ring Chromosome 15 29

Anatomical Context for Ring Chromosome 15

Publications for Ring Chromosome 15

Articles related to Ring Chromosome 15:

(show top 50) (show all 69)
# Title Authors PMID Year
1
[Molecular cytogenetic study of a case with ring chromosome 15]. 61
33751532 2021
2
Clinical, cytogenetic and molecular analyses of a rare case with ring chromosome 15 and review of the literature. 61
33218427 2020
3
Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature. 61
30442194 2018
4
Cutis tricolor parvimaculata in ring chromosome 15 syndrome: A case report. 61
29658137 2018
5
Fecundity in an infertile man with r(15) - a challenge to the current paradigm. 61
29223476 2018
6
Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene. 61
29226546 2018
7
The normality of sperm in an infertile man with ring chromosome 15: a case report. 61
29063501 2018
8
Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function. 61
28899882 2017
9
[Detection of a patient with ring chromosome 15 by low-coverage massively parallel copy number variation sequencing]. 61
28604966 2017
10
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15. 61
29090019 2017
11
A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15. 61
27739187 2017
12
A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS. 61
27192887 2016
13
Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature. 61
26697114 2015
14
Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome. 61
24664587 2014
15
Ophthalmic treatment and vision care of a patient with rare ring chromosome 15: a case report. 61
24991444 2014
16
Prenatal diagnosis of a fetus with ring chromosomal 15 by two- and three-dimensional ultrasonography. 61
25389503 2014
17
Ring chromosome 15: expanding the phenotype. 61
24551985 2013
18
[Combined spectral karyotyping and microarray-based comparative genomic hybridization for the diagnosis of a case with ring chromosome 15]. 61
23042394 2012
19
Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report. 61
22958471 2012
20
Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation. 61
22482980 2012
21
Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation. 61
27625804 2012
22
Cutis tricolor parvimaculata in two patients with ring chromosome 15 syndrome. 61
21995437 2011
23
Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH. 61
19455597 2009
24
Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia. 61
17380471 2007
25
A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14. 61
16830338 2006
26
Ring chromosome 15: characterization by array CGH. 61
16267671 2006
27
Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. 61
15384084 2004
28
A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion. 61
14577679 2003
29
Maternal transmission of a ring chromosome 15. 61
12872812 2003
30
Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15. 61
11746160 2001
31
In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene. 61
10594514 1999
32
Ring chromosome 15 syndrome in an adult female. 61
8906535 1996
33
Good growth response to growth hormone treatment in the ring chromosome 15 syndrome. 61
7545237 1995
34
Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome. 61
7789178 1995
35
A somatic origin of homologous Robertsonian translocations and isochromosomes. 61
8304346 1994
36
Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. 61
7506614 1993
37
Familial occurrence of ring chromosome 15. 61
1576754 1992
38
Ring chromosome 15 and 15qs+ mosaic: clinical and cytogenetic behaviour spanning 29 years. 61
1746611 1991
39
Clonality and methylation status of the Epstein-Barr virus (EBV) genomes in in vivo-infected EBV-carrying chronic lymphocytic leukemia (CLL) cell lines. 61
1850384 1991
40
An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene. 61
1849352 1991
41
A case of ring chromosome 15 accompanied by almost normal intelligence. 61
2358298 1990
42
Ring chromosome 15: follow-up data on physical and psychological development. 61
2081000 1990
43
Ring chromosome 15 in a patient with features of Fryns' syndrome. 61
2746621 1989
44
Psychological findings in three children with ring 15 chromosome. 61
3063822 1988
45
Direct outgrowth of in vivo Epstein-Barr virus (EBV)-infected chronic lymphocytic leukemia (CLL) cells into permanent lines. 61
2836321 1988
46
Two patients with ring chromosome 15 syndrome. 61
3278612 1988
47
Decreased cell viability of fibroblasts from two patients with a ring chromosome: an in vitro reflection of growth failure? 61
3674110 1987
48
Ring chromosome 15 in a mother and her children. 61
3596600 1987
49
Severe growth failure associated with atrophic intestinal mucosa and ring chromosome 15. 61
3962666 1986
50
Ring chromosome 15 syndrome. Further delineation of the adult phenotype. 61
3487276 1986

Variations for Ring Chromosome 15

Expression for Ring Chromosome 15

Search GEO for disease gene expression data for Ring Chromosome 15.

Pathways for Ring Chromosome 15

GO Terms for Ring Chromosome 15

Sources for Ring Chromosome 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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