R17
MCID: RNG012
MIFTS: 20

Ring Chromosome 17 (R17)

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

Aliases & Classifications for Ring Chromosome 17

MalaCards integrated aliases for Ring Chromosome 17:

Name: Ring Chromosome 17 53 59
Chromosome 17 Ring 53 72
Ring 17 53 59
Ring Chromosome 17 Syndrome 59
R17 53

Characteristics:

Orphanet epidemiological data:

59
ring chromosome 17 syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

MESH via Orphanet 45 C538046
ICD10 via Orphanet 34 Q93.2
UMLS via Orphanet 73 C2931714
Orphanet 59 ORPHA1441
UMLS 72 C2931714

Summaries for Ring Chromosome 17

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1441DefinitionRing chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), cafe-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ring Chromosome 17, also known as chromosome 17 ring, is related to miller-dieker lissencephaly syndrome and ring chromosome. Affiliated tissues include retina, liver and prostate.

Related Diseases for Ring Chromosome 17

Graphical network of the top 20 diseases related to Ring Chromosome 17:



Diseases related to Ring Chromosome 17

Symptoms & Phenotypes for Ring Chromosome 17

Drugs & Therapeutics for Ring Chromosome 17

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 17

Genetic Tests for Ring Chromosome 17

Anatomical Context for Ring Chromosome 17

MalaCards organs/tissues related to Ring Chromosome 17:

41
Retina, Liver, Prostate

Publications for Ring Chromosome 17

Articles related to Ring Chromosome 17:

(show all 36)
# Title Authors PMID Year
1
"Double-hit" chronic lymphocytic leukemia: An aggressive subgroup with 17p deletion and 8q24 gain. 38
29194741 2018
2
Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy. 38
29456482 2017
3
Combined papillary muscle sling and ring annuloplasty for moderate-to-severe secondary mitral regurgitation. 38
27620350 2016
4
Ring 17 syndrome: first clinical report without intellectual disability. 38
25635406 2015
5
Telomere shortening and telomere position effect in mild ring 17 syndrome. 38
24393457 2014
6
Flecked retina associated with ring 17 chromosome. 38
19197320 2009
7
Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location. 38
19793054 2009
8
Synthesis and EPR studies of 2'-deoxyuridines with alkynyl, rodlike linkages. 38
19609983 2009
9
Complex and segmental uniparental disomy updated. 38
18524837 2008
10
Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism. 38
17996402 2008
11
Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome. 38
17884758 2007
12
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17. 38
17163520 2007
13
Macrocyclic polyamines deplete cellular ATP levels and inhibit cell growth in human prostate cancer cells. 38
14761207 2004
14
Ring chromosome 17: phenotype variation by deletion size. 38
12974742 2003
15
CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature. 38
12774038 2003
16
Synthesis and electronic properties of regioisomerically pure oxochlorins. 38
12375962 2002
17
Ring chromosome 17 syndrome with monosomy 17 mosaicism: case report and literature review. 38
10519353 1999
18
Spatial cone activity distribution in diseases of the posterior pole determined by multifocal electroretinography. 38
9893810 1998
19
Supernumerary ring chromosome 17 identified by fluorescent in situ hybridization. 38
9098481 1997
20
Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation. 38
8986275 1997
21
Flecked retina associated with café au lait spots, microcephaly, epilepsy, short stature, and ring 17 chromosome. 38
8002828 1994
22
Ring chromosome 17. Case report and review of the literature. 38
1381884 1992
23
Miller-Dieker syndrome with ring chromosome 17. 38
1711306 1991
24
Flecked retina associated with ring 17 chromosome. 38
1995042 1991
25
[Ring chromosome 17 and recurring pneumopathy]. 38
2694873 1989
26
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. 38
3189330 1988
27
The metabolism of oestrone and some other steroids in isolated perfused rat and guinea pig livers. 38
2963441 1987
28
Partial deletion of distal 17q. 38
4014309 1985
29
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. 38
6745939 1984
30
Miller-Dieker syndrome: lissencephaly and monosomy 17p. 38
6834189 1983
31
Brief clinical report: ring chromosome 17 in a mentally retarded young man - clinical, cytogenetic, and biochemical investigations. 38
7048927 1982
32
Abnormalities of chromosome No. 17 in myeloproliferative disorders. 38
6950807 1982
33
An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome? 38
7241549 1981
34
[Tricuspid valve motion and tricuspid valve ring size in normals and patients with atrial septal defect (author's transl)]. 38
7264386 1981
35
Ring chromosome 17 in a mentally retarded boy. 38
121681 1979
36
Ring 17 chromosome detected by amniocentesis. 38
1150287 1975

Variations for Ring Chromosome 17

Expression for Ring Chromosome 17

Search GEO for disease gene expression data for Ring Chromosome 17.

Pathways for Ring Chromosome 17

GO Terms for Ring Chromosome 17

Sources for Ring Chromosome 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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