MCID: RNG032
MIFTS: 39

Ring Chromosome

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

Aliases & Classifications for Ring Chromosome

MalaCards integrated aliases for Ring Chromosome:

Name: Ring Chromosome 58

Characteristics:

Orphanet epidemiological data:

58
ring chromosome
Prevalence: 1-9/100000 (Worldwide);

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA363203

Summaries for Ring Chromosome

MalaCards based summary : Ring Chromosome is related to ring chromosome 4 and ring chromosome 21. An important gene associated with Ring Chromosome is RC14S (Ring Chromosome 14 Syndrome), and among its related pathways/superpathways are Human cytomegalovirus infection and Pathways in cancer. Affiliated tissues include myeloid, bone marrow and eye, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

Wikipedia : 73 A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Ring... more...

Related Diseases for Ring Chromosome

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 460)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 4 32.9 PDGFB COL1A1
2 ring chromosome 21 32.9 KMT2A ETV6
3 ring chromosome 15 32.9 NR2F2 IGF1R
4 ring chromosome 1 32.5 TRIM62 HMGA2 HMGA1
5 ring chromosome 7 32.3 TP53 MDM2 CDK4
6 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 30.2 KMT2A ETV6
7 bednar tumor 30.1 PDGFB COL1A1
8 spindle cell sarcoma 30.1 MDM2 EWSR1 ETV6
9 dermatofibrosarcoma protuberans 29.9 TP53 PDGFB HMGA2 COL1A1 CDK4
10 rhabdoid cancer 29.8 TP53 IGF1R EWSR1
11 juxtacortical osteosarcoma 29.8 MDM2 CDK4
12 soft tissue sarcoma 29.8 TP53 MDM2
13 mesenchymal cell neoplasm 29.7 TP53 HMGA2 EWSR1
14 pleomorphic liposarcoma 29.6 MDM2 EWSR1 CDK4
15 pleomorphic lipoma 29.6 MDM2 HMGA2 CDK4
16 atypical teratoid rhabdoid tumor 29.5 TP53 IGF1R HMGA2 EWSR1
17 osteogenic sarcoma 29.4 TP53 MDM2 IGF1R CDK4
18 malignant fibrous histiocytoma 29.4 TP53 MDM2 EWSR1 CDK4
19 breast fibroadenoma 29.4 TP53 HMGA2 HMGA1
20 sarcoma 29.4 TP53 PDGFB MDM2 EWSR1 CREB3L2 CDK4
21 leukemia, acute lymphoblastic 29.4 TP53 KMT2A HMGA2 ETV6 CDK4
22 sarcoma, synovial 29.3 MDM2 IGF1R HMGA2 EWSR1
23 malignant astrocytoma 29.3 TP53 MDM2 COL1A1 CDK4
24 well-differentiated liposarcoma 29.2 TP53 MDM2 HMGA2 EWSR1 CDK4
25 leiomyosarcoma 29.1 TP53 MDM2 HMGA2 CDK4
26 lipomatosis, multiple 29.0 MDM2 HMGA2 HMGA1 EWSR1 CDK4
27 liposarcoma 28.9 TP53 MDM2 IGF1R HMGA2 EWSR1 CDK4
28 ewing sarcoma 28.8 TP53 PDGFB MDM2 IGF1R EWSR1 CDK4
29 ring chromosome 20 11.8
30 ring chromosome 14 syndrome 11.8
31 ring chromosome 18 11.7
32 ring chromosome 13 11.7
33 ring chromosome 9 11.7
34 ring chromosome 2 11.6
35 ring chromosome 22 11.6
36 ring chromosome 6 11.5
37 ring chromosome 12 11.5
38 ring chromosome 17 11.5
39 ring chromosome 16 11.5
40 ring chromosome 10 11.5
41 ring chromosome 11 11.4
42 ring chromosome 19 11.4
43 ring chromosome 8 11.4
44 ring chromosome 3 11.4
45 ring chromosome 5 11.4
46 ring chromosome y syndrome 11.2
47 insulin-like growth factor i 11.2
48 phelan-mcdermid syndrome 11.0
49 miller-dieker lissencephaly syndrome 10.9
50 vater/vacterl association 10.9

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



Diseases related to Ring Chromosome

Symptoms & Phenotypes for Ring Chromosome

GenomeRNAi Phenotypes related to Ring Chromosome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.61 IGF1R PDGFB
2 Decreased substrate adherent cell growth GR00193-A-2 9.61 CDK4 PDGFB
3 Decreased substrate adherent cell growth GR00193-A-3 9.61 CDK4 PDGFB
4 Decreased substrate adherent cell growth GR00193-A-4 9.61 CDK4 IGF1R PDGFB
5 shRNA abundance <= 50% GR00343-S 9.17 CDK4 CREB3L2 CTSA HMGA2 IGF1R NR2F2

MGI Mouse Phenotypes related to Ring Chromosome:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.38 CDK4 COL1A1 CREB3L2 CTSA ETV6 FOXC1
2 cardiovascular system MP:0005385 10.36 CDK4 COL1A1 CTSA ETV6 FOXC1 HMGA1
3 homeostasis/metabolism MP:0005376 10.34 CDK4 COL1A1 CTSA ETV6 FOXC1 HMGA1
4 mortality/aging MP:0010768 10.31 CDK4 COL1A1 CREB3L2 CTSA ETV6 FOXC1
5 embryo MP:0005380 10.3 CDK4 COL1A1 ETV6 FOXC1 HMGA1 IGF1R
6 integument MP:0010771 10.27 CDK4 COL1A1 CTSA ETV6 FOXC1 IGF1R
7 endocrine/exocrine gland MP:0005379 10.25 CDK4 COL1A1 ETV6 FOXC1 HMGA1 IGF1R
8 immune system MP:0005387 10.25 CDK4 COL1A1 CTSA ETV6 HMGA1 IGF1R
9 craniofacial MP:0005382 10.23 CDK4 COL1A1 CREB3L2 CTSA FOXC1 IGF1R
10 digestive/alimentary MP:0005381 10.22 CDK4 COL1A1 CREB3L2 ETV6 FOXC1 IGF1R
11 liver/biliary system MP:0005370 10.2 CDK4 COL1A1 CTSA ETV6 FOXC1 IGF1R
12 limbs/digits/tail MP:0005371 10.08 COL1A1 CREB3L2 FOXC1 IGF1R KMT2A MDM2
13 muscle MP:0005369 10.06 CDK4 COL1A1 FOXC1 IGF1R KMT2A MDM2
14 neoplasm MP:0002006 10.02 CDK4 COL1A1 ETV6 HMGA1 IGF1R KMT2A
15 no phenotypic analysis MP:0003012 9.97 COL1A1 ETV6 HMGA1 KMT2A MDM2 NR2F2
16 pigmentation MP:0001186 9.8 CDK4 COL1A1 FOXC1 MDM2 NR2F2 PDGFB
17 renal/urinary system MP:0005367 9.76 CDK4 COL1A1 CTSA FOXC1 KMT2A MDM2
18 reproductive system MP:0005389 9.7 CDK4 COL1A1 CTSA FOXC1 HMGA1 IGF1R
19 respiratory system MP:0005388 9.17 COL1A1 CTSA FOXC1 IGF1R PDGFB TP53

Drugs & Therapeutics for Ring Chromosome

Search Clinical Trials , NIH Clinical Center for Ring Chromosome

Genetic Tests for Ring Chromosome

Anatomical Context for Ring Chromosome

MalaCards organs/tissues related to Ring Chromosome:

40
Myeloid, Bone Marrow, Eye, Thyroid, Pituitary, Pancreas, Salivary Gland

Publications for Ring Chromosome

Articles related to Ring Chromosome:

(show top 50) (show all 1243)
# Title Authors PMID Year
1
[Molecular cytogenetic study of a case with ring chromosome 15]. 61
33751532 2021
2
Multiple desmoplastic Spitz nevi with BRAF fusions in a patient with ring chromosome 7 syndrome. 61
33522711 2021
3
A novel aberration of COL1A1-PDGFB fusion as an insertion in chromosome 15 in one case of dermatofibrosarcoma protuberans involving a rare location. 61
32519331 2021
4
Relative Biological Effectiveness and Non-Poissonian Distribution of Dicentric Chromosome Aberrations following Californium-252 Neutron Exposures of Human Peripheral Blood Lymphocytes. 61
33400791 2021
5
Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming. 61
33619287 2021
6
Ring chromosome 7 in a child with T-cell acute lymphoblastic leukemia with myeloid markers. 61
33678971 2021
7
Bilateral Vestibular Schwannomas in a Patient with Ring Chromosome 22: Case Report and Review of the Literature. 61
33550291 2021
8
Transcriptome analysis of a ring chromosome 20 patient cohort. 61
33207017 2021
9
Prenatal diagnosis and molecular cytogenetic characterization of a pure ring chromosome 21 with a 4.657-Mb 21q22.3 deletion. 61
33494993 2021
10
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion. 61
32663882 2020
11
Ring chromosome formation by intra-strand repairing of subtelomeric double stand breaks and clinico-cytogenomic correlations for ring chromosome 9. 61
32978894 2020
12
Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis. 61
33318309 2020
13
46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study. 61
33316910 2020
14
Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,-8 mosaicism. 61
33070101 2020
15
Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18. 61
33212351 2020
16
Relative Biological Effectiveness and Non-Poissonian Distribution of Dicentric Chromosome Aberrations after Californium-252 Neutron Exposures of Human Peripheral Blood Lymphocytes. 61
33264403 2020
17
Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature. 61
32822873 2020
18
Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5. 61
32519173 2020
19
Clinical, cytogenetic and molecular analyses of a rare case with ring chromosome 15 and review of the literature. 61
33218427 2020
20
A Case of Ring Chromosome 18 with Single Umbilical Artery Detected During Prenatal Period. 61
33224015 2020
21
Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review. 61
33020433 2020
22
Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report. 61
32972420 2020
23
Epilepsy in Ring Chromosome 20 Syndrome Might Have Variable Clinical Features. 61
33623285 2020
24
In vivo genotoxicity assessment of sunset yellow and sodium benzoate in female rats. 61
30208729 2020
25
[Analysis of clinical and genetic characteristics of a child with ring chromosome 4 syndrome]. 61
32761591 2020
26
Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives. 61
32399795 2020
27
Improvement of epilepsy with lacosamide in a patient with ring chromosome 20 syndrome. 61
32247529 2020
28
Assessing the role of ketogenic dietary therapy in ring chromosome 20 syndrome: A patient-led approach. 61
32524055 2020
29
Praxis-induced reflex seizures in two Japanese cases with ring chromosome 20 syndrome. 61
32301722 2020
30
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 associated with congenital hypoplasia of the tongue and review of the literature. 61
32127158 2020
31
A rare case of ring chromosome 3 syndrome. 61
32090537 2020
32
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis. 61
32039781 2020
33
Café au Lait Macules and Associated Genetic Syndromes. 61
31831114 2020
34
Association of DEAR1 Tagging Single Nucleotide Polymorphisms With Breast Cancer in a Sample of Colombian Population: A Case Control Study. 61
32341648 2020
35
Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20. 61
32082653 2020
36
Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes. 61
33363513 2020
37
Genome sequencing of gut symbiotic Bacillus velezensis LC1 for bioethanol production from bamboo shoots. 61
32140179 2020
38
Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients. 61
32733533 2020
39
Multimodal imaging of ring 14 syndrome associated maculopathy. 61
31755799 2019
40
Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review. 61
32293439 2019
41
Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18. 61
31788257 2019
42
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. 61
31694722 2019
43
A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature. 61
30385235 2019
44
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies. 61
31210441 2019
45
[Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome]. 61
31598948 2019
46
A Rare Cytogenetic Variant of Monosomy 18p Syndrome as a Consequence of Whole-Arm Translocation between Chromosomes 13 and 18. 61
31679365 2019
47
[Alopecia, deformed ear and mental retardation associated with terminal 21q deletion]. 61
30922549 2019
48
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes. 61
30225942 2019
49
[Kleefstra syndrome 1 and ring chromosome 9 in a case]. 61
31400141 2019
50
X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood. 61
30991358 2019

Variations for Ring Chromosome

Expression for Ring Chromosome

Search GEO for disease gene expression data for Ring Chromosome.

Pathways for Ring Chromosome

Pathways related to Ring Chromosome according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 TP53 PDGFB MDM2 CREB3L2 CDK4
2 12.66 TP53 PDGFB MDM2 IGF1R CDK4
3
Show member pathways
12.64 TP53 PDGFB MDM2 IGF1R CREB3L2 COL1A1
4
Show member pathways
12.55 TP53 PDGFB MDM2 IGF1R CREB3L2 CDK4
5
Show member pathways
12.48 TP53 PDGFB MDM2 IGF1R CDK4
6 12.38 TP53 PDGFB MDM2 HMGA2
7 12.27 KMT2A HMGA2 HMGA1 EWSR1
8 12.12 TP53 MDM2 IGF1R COL1A1
9 12.11 TP53 MDM2 CREB3L2 CDK4
10
Show member pathways
11.99 TP53 MDM2 IGF1R CREB3L2 CDK4
11 11.69 TP53 MDM2 CDK4
12 11.63 TP53 HMGA1 CDK4
13 11.6 TP53 PDGFB MDM2 IGF1R CDK4
14 11.56 TP53 MDM2 CDK4
15 11.46 TP53 MDM2 KMT2A IGF1R HMGA1 COL1A1
16 11.45 TP53 MDM2 KMT2A IGF1R HMGA2 EWSR1
17 11.3 TP53 MDM2 CDK4
18 11.25 TP53 MDM2 CDK4
19 11.05 TP53 MDM2 CDK4
20 10.72 PDGFB COL1A1

GO Terms for Ring Chromosome

Cellular components related to Ring Chromosome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.85 TP53 NR2F2 MDM2 KMT2A HMGA2 HMGA1
2 chromatin GO:0000785 9.23 TP53 NR2F2 HMGA2 HMGA1 FOXC1 ETV6
3 senescence-associated heterochromatin focus GO:0035985 8.96 HMGA2 HMGA1

Biological processes related to Ring Chromosome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.99 TP53 NR2F2 MDM2 HMGA2 FOXC1 ETV6
2 negative regulation of transcription, DNA-templated GO:0045892 9.91 TP53 PDGFB NR2F2 MDM2 HMGA2 HMGA1
3 response to drug GO:0042493 9.86 TP53 MDM2 COL1A1 CDK4
4 heart development GO:0007507 9.83 TP53 PDGFB MDM2 FOXC1
5 regulation of transcription, DNA-templated GO:0006355 9.81 TP53 NR2F2 KMT2A HMGA2 HMGA1 FOXC1
6 positive regulation of gene expression GO:0010628 9.73 TP53 PDGFB MDM2 HMGA2 FOXC1 CREB3L2
7 blood vessel development GO:0001568 9.63 MDM2 FOXC1 COL1A1
8 positive regulation of transcription by RNA polymerase II GO:0045944 9.61 TP53 NR2F2 MDM2 KMT2A HMGA2 HMGA1
9 response to hyperoxia GO:0055093 9.57 COL1A1 CDK4
10 cardiac septum morphogenesis GO:0060411 9.55 TP53 MDM2
11 lymph vessel development GO:0001945 9.54 NR2F2 FOXC1
12 mesenchymal cell differentiation GO:0048762 9.49 HMGA2 FOXC1
13 cellular response to UV-C GO:0071494 9.48 TP53 MDM2
14 oncogene-induced cell senescence GO:0090402 9.4 HMGA2 HMGA1
15 cellular response to actinomycin D GO:0072717 9.37 TP53 MDM2
16 senescence-associated heterochromatin focus assembly GO:0035986 9.32 HMGA2 HMGA1
17 positive regulation of transcription, DNA-templated GO:0045893 9.32 TRIM62 TP53 PDGFB NR2F2 KMT2A HMGA2

Molecular functions related to Ring Chromosome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.11 TP53 NR2F2 KMT2A HMGA2 HMGA1 FOXC1
2 transcription factor binding GO:0008134 9.83 TP53 HMGA2 HMGA1 FOXC1
3 zinc ion binding GO:0008270 9.8 TRIM62 TP53 SHANK3 NR2F2 MDM2 KMT2A
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.67 TP53 HMGA2 FOXC1 CREB3L2
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.65 TP53 MDM2 FOXC1 ETV6 CREB3L2
6 identical protein binding GO:0042802 9.56 TRIM62 TP53 PDGFB MDM2 KMT2A IGF1R
7 cAMP response element binding GO:0035497 9.49 HMGA2 CREB3L2
8 DNA binding, bending GO:0008301 9.48 HMGA2 FOXC1
9 peroxisome proliferator activated receptor binding GO:0042975 9.46 MDM2 HMGA1
10 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 9.43 HMGA2 HMGA1
11 platelet-derived growth factor binding GO:0048407 9.4 PDGFB COL1A1
12 5'-deoxyribose-5-phosphate lyase activity GO:0051575 9.16 HMGA2 HMGA1
13 AT DNA binding GO:0003680 8.8 KMT2A HMGA2 HMGA1

Sources for Ring Chromosome

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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