R11
MCID: RNG006
MIFTS: 19

Ring Chromosome 11 (R11)

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

Aliases & Classifications for Ring Chromosome 11

MalaCards integrated aliases for Ring Chromosome 11:

Name: Ring Chromosome 11 52 58
Ring Chromosome 11 Syndrome 58 71
Ring 11 52 58
R11 52 17
Chromosome 11 Ring 52
R(11) Syndrome 58
Rc11 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.2
UMLS via Orphanet 72 C0265444
Orphanet 58 ORPHA96175
UMLS 71 C0265444

Summaries for Ring Chromosome 11

MalaCards based summary : Ring Chromosome 11, also known as ring chromosome 11 syndrome, is related to muscular dystrophy-dystroglycanopathy , type c, 1 and bladder cancer. Affiliated tissues include bone, heart and myeloid.

Related Diseases for Ring Chromosome 11

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 1 11.6
2 bladder cancer 10.4
3 ring chromosome 10.4
4 autoimmune disease 10.3
5 dermatitis, atopic 10.3
6 chromosomal triplication 10.1
7 hypertelorism 10.0
8 jacobsen syndrome 10.0
9 wilms tumor 5 10.0
10 pancytopenia 10.0
11 beckwith-wiedemann syndrome 9.8
12 strabismus 9.8
13 diabetes mellitus, type i 9.8
14 leukemia, acute myeloid 9.8
15 diffuse large b-cell lymphoma 9.8
16 androgenic alopecia 9.8
17 microcephaly 9.8
18 polycystic ovary syndrome 9.8
19 hyperandrogenism 9.8
20 amenorrhea 9.8
21 thrombocytopenia 9.8
22 ventricular septal defect 9.8
23 heart septal defect 9.8
24 hyperinsulinism 9.8
25 neurilemmoma 9.8
26 b-cell lymphoma 9.8
27 myeloid leukemia 9.8
28 mechanical strabismus 9.8
29 alopecia 9.8
30 47,xyy 9.8
31 chromosome 6p duplication 9.8
32 precocious puberty 9.8
33 splenomegaly 9.8
34 bicornuate uterus 9.8
35 partial deletion of the long arm of chromosome 11 9.8
36 intravascular large b-cell lymphoma 9.8
37 hypothyroidism 9.7

Graphical network of the top 20 diseases related to Ring Chromosome 11:



Diseases related to Ring Chromosome 11

Symptoms & Phenotypes for Ring Chromosome 11

Drugs & Therapeutics for Ring Chromosome 11

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 11

Genetic Tests for Ring Chromosome 11

Anatomical Context for Ring Chromosome 11

MalaCards organs/tissues related to Ring Chromosome 11:

40
Bone, Heart, Myeloid, B Cells

Publications for Ring Chromosome 11

Articles related to Ring Chromosome 11:

(show all 17)
# Title Authors PMID Year
1
Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report. 61
28832804 2018
2
Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome. 61
28232783 2017
3
Endocrine abnormalities in ring chromosome 11: a case report and review of the literature. 61
26576288 2015
4
De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease. 61
26557157 2015
5
Gain of 11q by an additional ring chromosome 11 and trisomy 18 in CD5-positive intravascular large B-cell lymphoma. 61
23995114 2013
6
Molecular and clinical characterization of patients with a ring chromosome 11. 61
22975011 2012
7
[Wilms' tumor and ring chromosome 11 in a child]. 61
23234794 2012
8
Trisomy 6p and ring chromosome 11 in a melanotic schwannoma suggest relation to malignant melanoma rather than conventional schwannoma. 61
21424748 2011
9
Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies. 61
20583153 2010
10
Evidence for telomeric fusions as a mechanism for recurring structural aberrations of chromosome 11 in giant cell tumor of bone. 61
15860354 2005
11
Prenatal diagnosis of a de novo ring chromosome 11. 61
11503165 2001
12
Pre-B acute lymphoblastic leukemia in a 3-year-old boy with pre-acute myelogenous leukemia myelodysplastic syndrome: cytogenetic evidence of common early progenitor cell ontogeny. 61
9703011 1998
13
Ring chromosome 11 and café-au-lait spots. 61
3189413 1988
14
Ring chromosome 11. A case report and review of the literature. 61
3487279 1986
15
Congenital ocular and other systemic abnormalities associated with ring-11 chromosome. 61
3086186 1986
16
Two cases of ring chromosome 11. 61
6315941 1983
17
Ring chromosome 11 [46,XX,r(11) (p15q25)] associated with clinical features of the 11q- syndrome. 61
6974530 1981

Variations for Ring Chromosome 11

Expression for Ring Chromosome 11

Search GEO for disease gene expression data for Ring Chromosome 11.

Pathways for Ring Chromosome 11

GO Terms for Ring Chromosome 11

Sources for Ring Chromosome 11

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
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