R16
MCID: RNG011
MIFTS: 16

Ring Chromosome 16 (R16)

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

Aliases & Classifications for Ring Chromosome 16

MalaCards integrated aliases for Ring Chromosome 16:

Name: Ring Chromosome 16 52 58
Ring 16 52 58
Ring Chromosome 16 Syndrome 58
Chromosome 16 Ring 52
R16 52

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.2
Orphanet 58 ORPHA96178

Summaries for Ring Chromosome 16

NIH Rare Diseases : 52 Ring chromosome 16 is characterized by postnatal growth deficiency, intellectual disability , microcephaly , broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay. To date, less than 10 cases have been reported in the medical literature.

MalaCards based summary : Ring Chromosome 16, also known as ring 16, is related to muscular dystrophy-dystroglycanopathy , type c, 9 and ring chromosome. Affiliated tissues include skin and trachea.

Related Diseases for Ring Chromosome 16

Graphical network of the top 20 diseases related to Ring Chromosome 16:



Diseases related to Ring Chromosome 16

Symptoms & Phenotypes for Ring Chromosome 16

Drugs & Therapeutics for Ring Chromosome 16

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 16

Genetic Tests for Ring Chromosome 16

Anatomical Context for Ring Chromosome 16

MalaCards organs/tissues related to Ring Chromosome 16:

40
Skin, Trachea

Publications for Ring Chromosome 16

Articles related to Ring Chromosome 16:

(show all 20)
# Title Authors PMID Year
1
Novel distamycin analogues that block the cell cycle of African trypanosomes with high selectivity and potency. 61
31978782 2020
2
Synthesis of Novel Pyridine Bearing Biologically Active Imidiazolyl, Pyrazolyl, Oxa/thiadiazolyl and Urea Derivatives as Promising Anticancer Agents. 61
32103718 2020
3
New Insight into the Origin of the Red/Near-Infrared Intense Fluorescence of a Crystalline 2-Hydroxychalcone Derivative: A Comprehensive Picture from the Excited-State Femtosecond Dynamics. 61
29094952 2017
4
High-order modulation on a single discrete eigenvalue for optical communications based on nonlinear Fourier transform. 61
29041711 2017
5
A quality assurance framework for the fully automated and objective evaluation of image quality in cone-beam computed tomography. 61
24593719 2014
6
The role of fibrin glue in the treatment of high and low fistulas in ano. 61
23814732 2013
7
Dynamic anatomic relationship of the esophagus and trachea on sonography: implications for endotracheal tube confirmation in children. 61
22922616 2012
8
Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization. 61
23705081 2011
9
Adult transitional pre-B acute lymphoblastic leukemia associated with ring chromosome 16. 61
18503834 2008
10
Ex vivo study of the adhesion of an epoxy-based sealer to human dentine submitted to irradiation with Er : YAG and Nd : YAG lasers. 61
16343112 2005
11
Does downstaging predict improved outcome after preoperative chemoradiation for extraperitoneal locally advanced rectal cancer? A long-term analysis of 165 patients. 61
12062610 2002
12
Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts. 61
11807861 2002
13
Conceptually new deltanoids (vitamin D analogs) inhibit multistage skin tumorigenesis. 61
10874012 2000
14
Heritabilities of teat end shape and teat diameter and their relationships with somatic cell score. 61
10509262 1999
15
Delineation of a ring chromosome 16 by the FISH-technique: a case report with review. 61
9137886 1997
16
Profile of ligand specificity of the vitamin D binding protein for 1 alpha,25-dihydroxyvitamin D3 and its analogs. 61
7976510 1994
17
Altered hapten recognition by two anti-digoxin hybridoma variants due to variable region point mutations. 61
1999439 1991
18
Ring chromosome 16: a new case. 61
2195979 1990
19
Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16. 61
2464927 1988
20
Ring chromosome 16. 61
7327577 1981

Variations for Ring Chromosome 16

Expression for Ring Chromosome 16

Search GEO for disease gene expression data for Ring Chromosome 16.

Pathways for Ring Chromosome 16

GO Terms for Ring Chromosome 16

Sources for Ring Chromosome 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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
Content
Loading form....