R15
MCID: RNG010
MIFTS: 23

Ring Chromosome 15 (R15)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 15

MalaCards integrated aliases for Ring Chromosome 15:

Name: Ring Chromosome 15 53 59
Chromosome 15 Ring 53 29 73
Ring Chromosome 15 Syndrome 59 73
Ring 15 53 59
R15 53

Classifications:



External Ids:

Orphanet 59 ORPHA96177
MESH via Orphanet 45 C538035
UMLS via Orphanet 74 C2931703
ICD10 via Orphanet 34 Q93.2

Summaries for Ring Chromosome 15

NIH Rare Diseases : 53 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 chromosome 15 ring, is related to insulin-like growth factor i and retinitis pigmentosa 4. An important gene associated with Ring Chromosome 15 is IGF1R (Insulin Like Growth Factor 1 Receptor). The drugs Azithromycin and Clarithromycin have been mentioned in the context of this disorder. Affiliated tissues include kidney and heart.

Related Diseases for Ring Chromosome 15

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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 4 83905-01-5 55185 447043
2
Clarithromycin Approved Phase 4 81103-11-9 84029
3
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
4 Anti-Bacterial Agents Phase 4
5 Antibiotics, Antitubercular Phase 4
6 Anti-Infective Agents Phase 4
7 Antitubercular Agents Phase 4
8 Cytochrome P-450 Enzyme Inhibitors Phase 4
9 Erythromycin stearate Phase 4
10 Cytochrome P-450 CYP3A Inhibitors Phase 4
11 Erythromycin Estolate Phase 4
12 Erythromycin Ethylsuccinate Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Aizthromycin or Clarithromycin in 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 Chromosome 15 Ring 29

Anatomical Context for Ring Chromosome 15

MalaCards organs/tissues related to Ring Chromosome 15:

41
Kidney, Heart

Publications for Ring Chromosome 15

Articles related to Ring Chromosome 15:

(show all 48)
# Title Authors Year
1
Cutis tricolor parvimaculata in ring chromosome 15 syndrome: A case report. ( 29658137 )
2018
2
Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene. ( 29226546 )
2018
3
The normality of sperm in an infertile man with ring chromosome 15: a case report. ( 29063501 )
2018
4
Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature. ( 30442194 )
2018
5
A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15. ( 27739187 )
2017
6
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15. ( 29090019 )
2017
7
Ophthalmic treatment and vision care of a patient with rare ring chromosome 15: a case report. ( 24991444 )
2014
8
Ring chromosome 15: expanding the phenotype. ( 24551985 )
2013
9
Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation. ( 22482980 )
2012
10
Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report. ( 22958471 )
2012
11
Cutis tricolor parvimaculata in two patients with ring chromosome 15 syndrome. ( 21995437 )
2011
12
Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH. ( 19455597 )
2009
13
Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia. ( 17380471 )
2007
14
Ring chromosome 15: characterization by array CGH. ( 16267671 )
2006
15
A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14. ( 16830338 )
2006
16
Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. ( 15384084 )
2004
17
Maternal transmission of a ring chromosome 15. ( 12872812 )
2003
18
A girl with cutaneous hyperpigmentation, cafAc au lait spots and ring chromosome 15 without significant deletion. ( 14577679 )
2003
19
Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15. ( 11746160 )
2001
20
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. ( 10594514 )
1999
21
Ring chromosome 15 syndrome in an adult female. ( 8906535 )
1996
22
Good growth response to growth hormone treatment in the ring chromosome 15 syndrome. ( 7545237 )
1995
23
Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome. ( 7789178 )
1995
24
Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. ( 7506614 )
1993
25
Familial occurrence of ring chromosome 15. ( 1576754 )
1992
26
Ring chromosome 15 and 15qs+ mosaic: clinical and cytogenetic behaviour spanning 29 years. ( 1746611 )
1991
27
Ring chromosome 15: follow-up data on physical and psychological development. ( 2081000 )
1990
28
A case of ring chromosome 15 accompanied by almost normal intelligence. ( 2358298 )
1990
29
Ring chromosome 15 in a patient with features of Fryns' syndrome. ( 2746621 )
1989
30
Two patients with ring chromosome 15 syndrome. ( 3278612 )
1988
31
Ring chromosome 15 in a mother and her children. ( 3596600 )
1987
32
Severe growth failure associated with atrophic intestinal mucosa and ring chromosome 15. ( 3962666 )
1986
33
Ring chromosome 15 syndrome. Further delineation of the adult phenotype. ( 3487276 )
1986
34
Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. ( 4040173 )
1985
35
Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15. ( 6468449 )
1984
36
A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings. ( 6220608 )
1983
37
Ring chromosome 15: report of a case in an infertile man. ( 7105474 )
1982
38
Ring chromosome 15. ( 7170952 )
1982
39
Primary gonadal hypoplasia and dysmorphic features in ring chromosome 15 syndrome. ( 7116681 )
1982
40
Ring chromosome 15 syndrome. ( 7270144 )
1981
41
Ring chromosome 15 in a male adult with radial defects. Evaluation of the phenotype. ( 7449181 )
1980
42
Ring chromosome 15: phenotype, Ag-NOR analysis, secondary aneuploidy, and associated chromosome instability. ( 6156798 )
1980
43
Ring chromosome 15 and failure to thrive. ( 7405920 )
1980
44
Ring chromosome 15 syndrome. ( 500090 )
1979
45
Analysis of banding patterns and mosaic configurations in a case of ring chromosome 15. ( 649157 )
1978
46
Ring chromosome 15; 46,XX,r(15) (p11q26) in a girl. ( 732019 )
1978
47
Ring chromosome 15 in child with a minor dysmorphism of phenotype. ( 939571 )
1976
48
Ring chromosome 15:r(15). Identification by R banding. ( 50276 )
1975

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 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
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