MCID: RNG032
MIFTS: 42

Ring Chromosome

Categories: Eye diseases, Fetal diseases, Immune diseases, Neuronal diseases, Rare 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 21 and ring chromosome 4. 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. The drugs Dopamine and Apomorphine have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and t cells, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

Wikipedia : 74 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 473)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 21 34.9 KMT2A ETV6
2 ring chromosome 4 34.7 PDGFB COL1A1
3 ring chromosome 15 34.4 NR2F2 IGF1R
4 ring chromosome 1 34.1 TRIM62 HMGA2 HMGA1
5 ring chromosome 7 33.8 TP53 MDM2 CDK4
6 bednar tumor 30.4 PDGFB COL1A1
7 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 30.4 KMT2A ETV6
8 juxtacortical osteosarcoma 30.1 MDM2 CDK4
9 familial retinoblastoma 29.8 TP53 MDM2 CDK4
10 dermatofibrosarcoma protuberans 29.7 TP53 PDGFB HMGA2 COL1A1 CDK4
11 pleomorphic lipoma 29.7 MDM2 HMGA2 CDK4
12 mesenchymal cell neoplasm 29.7 TP53 HMGA2 EWSR1
13 malignant fibroxanthoma 29.6 MDM2 HMGA2 CDK4
14 atypical teratoid rhabdoid tumor 29.5 TP53 IGF1R HMGA2
15 well-differentiated liposarcoma 29.5 MDM2 HMGA2 EWSR1 CDK4
16 mesenchymoma 29.4 MDM2 HMGA2
17 pleomorphic liposarcoma 29.4 MDM2 EWSR1 CDK4
18 osteogenic sarcoma 29.3 TP53 MDM2 IGF1R CDK4
19 connective tissue benign neoplasm 29.2 TP53 MDM2 CDK4
20 myelodysplastic syndrome 29.2 TP53 MDM2 KMT2A ETV6 CDK4
21 soft tissue sarcoma 29.2 TP53 MDM2 EWSR1
22 breast fibroadenoma 29.1 TP53 HMGA2 HMGA1
23 histiocytoma 29.1 TP53 MDM2 EWSR1 CDK4
24 leukemia, acute myeloid 29.0 TP53 MDM2 KMT2A EWSR1 ETV6 CDK4
25 fibrosarcoma 29.0 TP53 PDGFB EWSR1 ETV6 COL1A1
26 leiomyosarcoma 28.9 TP53 MDM2 HMGA2 CDK4
27 sarcoma, synovial 28.9 MDM2 IGF1R HMGA2 EWSR1
28 lipomatosis, multiple 28.8 MDM2 HMGA2 HMGA1 EWSR1 CDK4
29 sarcoma 28.5 TP53 PDGFB MDM2 IGF1R EWSR1 CREB3L2
30 ewing sarcoma 28.5 TP53 MDM2 IGF1R EWSR1 CDK4
31 melanoma 28.4 TP53 PDGFB MDM2 IGF1R EWSR1 CDK4
32 glioblastoma multiforme 28.4 TP53 PDGFB MDM2 IGF1R CDK4
33 liposarcoma 28.4 TP53 MDM2 IGF1R HMGA2 EWSR1 CDK4
34 ring chromosome 20 12.8
35 ring chromosome 14 syndrome 12.8
36 ring chromosome 9 12.7
37 ring chromosome 18 12.7
38 ring chromosome 13 12.7
39 ring chromosome 22 12.7
40 ring chromosome 2 12.7
41 ring chromosome 17 12.6
42 ring chromosome 12 12.6
43 ring chromosome 6 12.6
44 ring chromosome 16 12.6
45 ring chromosome 8 12.5
46 ring chromosome 10 12.5
47 ring chromosome 19 12.5
48 ring chromosome 11 12.5
49 ring chromosome 3 12.4
50 ring chromosome 5 12.4

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 9.32 CDK4 CREB3L2 CTSA ETV6 FOXC1 HMGA2

MGI Mouse Phenotypes related to Ring Chromosome:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 CDK4 COL1A1 CREB3L2 CTSA ETV6 FOXC1
2 cardiovascular system MP:0005385 10.33 CDK4 COL1A1 CTSA ETV6 FOXC1 IGF1R
3 homeostasis/metabolism MP:0005376 10.31 CDK4 COL1A1 CTSA ETV6 FOXC1 IGF1R
4 mortality/aging MP:0010768 10.3 CDK4 COL1A1 CREB3L2 CTSA ETV6 FOXC1
5 integument MP:0010771 10.29 CDK4 COL1A1 CTSA ETV6 FOXC1 IGF1R
6 embryo MP:0005380 10.27 CDK4 COL1A1 ETV6 FOXC1 IGF1R KMT2A
7 craniofacial MP:0005382 10.24 CDK4 COL1A1 CREB3L2 CTSA FOXC1 IGF1R
8 digestive/alimentary MP:0005381 10.23 CDK4 COL1A1 CREB3L2 ETV6 FOXC1 IGF1R
9 immune system MP:0005387 10.22 CDK4 COL1A1 CTSA ETV6 IGF1R KMT2A
10 endocrine/exocrine gland MP:0005379 10.21 CDK4 COL1A1 ETV6 FOXC1 IGF1R MDM2
11 liver/biliary system MP:0005370 10.18 CDK4 COL1A1 CTSA FOXC1 IGF1R KMT2A
12 limbs/digits/tail MP:0005371 10.1 COL1A1 CREB3L2 FOXC1 IGF1R KMT2A MDM2
13 muscle MP:0005369 10.09 CDK4 COL1A1 FOXC1 IGF1R KMT2A MDM2
14 nervous system MP:0003631 10.07 CDK4 COL1A1 FOXC1 IGF1R KMT2A MDM2
15 neoplasm MP:0002006 10.01 CDK4 COL1A1 ETV6 IGF1R KMT2A MDM2
16 no phenotypic analysis MP:0003012 9.92 COL1A1 ETV6 KMT2A MDM2 NR2F2 PDGFB
17 pigmentation MP:0001186 9.8 CDK4 COL1A1 FOXC1 MDM2 NR2F2 PDGFB
18 renal/urinary system MP:0005367 9.76 CDK4 COL1A1 CTSA FOXC1 KMT2A MDM2
19 reproductive system MP:0005389 9.65 CDK4 COL1A1 CTSA FOXC1 IGF1R KMT2A
20 respiratory system MP:0005388 9.17 COL1A1 CTSA FOXC1 IGF1R PDGFB TP53

Drugs & Therapeutics for Ring Chromosome

Drugs for Ring Chromosome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2
Apomorphine Approved, Investigational 58-00-4, 41372-20-7 6005
3 Sympathomimetics
4 Gastrointestinal Agents
5 Neurotransmitter Agents
6 Dopamine agonists
7 Dopamine Agents
8 Autonomic Agents
9 Protective Agents
10 Emetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dopaminergic Reactivity In Idiopathic Generalized Epilepsy: A "Proof Of Concept" Clinical, Pharmacological And Neurophysiological Study Completed NCT01432821

Search NIH Clinical Center for Ring Chromosome

Genetic Tests for Ring Chromosome

Anatomical Context for Ring Chromosome

MalaCards organs/tissues related to Ring Chromosome:

40
Bone, Myeloid, T Cells, B Cells, Skin, Heart, Breast

Publications for Ring Chromosome

Articles related to Ring Chromosome:

(show top 50) (show all 1207)
# Title Authors PMID Year
1
Café au Lait Macules and Associated Genetic Syndromes. 61
31831114 2020
2
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis. 61
32039781 2020
3
Multimodal imaging of ring 14 syndrome associated maculopathy. 61
31755799 2019
4
Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18. 61
31788257 2019
5
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
6
A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature. 61
30385235 2019
7
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies. 61
31210441 2019
8
[Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome]. 61
31598948 2019
9
A Rare Cytogenetic Variant of Monosomy 18p Syndrome as a Consequence of Whole-Arm Translocation between Chromosomes 13 and 18. 61
31679365 2019
10
[Alopecia, deformed ear and mental retardation associated with terminal 21q deletion]. 61
30922549 2019
11
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes. 61
30225942 2019
12
[Kleefstra syndrome 1 and ring chromosome 9 in a case]. 61
31400141 2019
13
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
14
Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples. 61
30632238 2019
15
Cromosoma 13 en anillo. 61
30907385 2019
16
Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of RUNX1: Cytogenetic and Molecular Characterization. 61
30800047 2019
17
Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome. 61
31976095 2019
18
Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages. 61
31195399 2019
19
MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism. 61
30647996 2019
20
Small Supernumerary Ring Chromosome Derived from an Inverted Duplication of 13q11.2q14 in a Fetus with Coarctation of the Aorta. 61
31315112 2019
21
Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13. 61
30500678 2018
22
CRISPR-C: circularization of genes and chromosome by CRISPR in human cells. 61
30551175 2018
23
A Case of Thumb Polydactyly which Ulnar Thumb Has No Active Motion in Ring Chromosome 4. 61
30428788 2018
24
[Genetic analysis of a patient with premature ovarian failure and a 45,XX,-13/46,XX,r(13)(p13q34)/46,XX,r(13;13) karyotype]. 61
30512167 2018
25
A rare case of hepatosplenic γδ T-cell lymphoma expressing CD19 with ring chromosome 7 and trisomy 8. 61
30553467 2018
26
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. 61
30419018 2018
27
Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified. 61
30455928 2018
28
Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature. 61
30442194 2018
29
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature. 61
30305128 2018
30
A new perspective to aberrations caused by barium and vanadium ions on Lens culinaris Medik. 61
29783108 2018
31
In vivo genotoxicity assessment of sunset yellow and sodium benzoate in female rats. 61
30208729 2018
32
Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22. 61
30144655 2018
33
Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report. 61
28832804 2018
34
[Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case]. 61
29972124 2018
35
Cutis tricolor parvimaculata in ring chromosome 15 syndrome: A case report. 61
29658137 2018
36
Combined Immunodeficiency with Ring Chromosome 21. 61
29656336 2018
37
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome). 61
29378768 2018
38
Gene Duplication and Aneuploidy Trigger Rapid Evolution of Herbicide Resistance in Common Waterhemp. 61
29295942 2018
39
Ring chromosomes: from formation to clinical potential. 61
28894962 2018
40
"Double-hit" chronic lymphocytic leukemia: An aggressive subgroup with 17p deletion and 8q24 gain. 61
29194741 2018
41
Specificity of electroclinical features in the diagnosis of ring chromosome 20. 61
29414555 2018
42
The normality of sperm in an infertile man with ring chromosome 15: a case report. 61
29063501 2018
43
Fecundity in an infertile man with r(15) - a challenge to the current paradigm. 61
29223476 2018
44
Otologic disorders in Turner syndrome. 61
28941966 2018
45
Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene. 61
29226546 2018
46
Rapid and Efficient CRISPR/Cas9-Based Mating-Type Switching of Saccharomyces cerevisiae. 61
29150593 2018
47
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22. 61
29736186 2018
48
Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature. 61
29760778 2018
49
Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review. 61
29656294 2018
50
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. 61
29492108 2018

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 12.67 TP53 PDGFB MDM2 IGF1R CDK4
3
Show member pathways
12.64 TP53 PDGFB MDM2 IGF1R CREB3L2 COL1A1
4
Show member pathways
12.63 TP53 PDGFB MDM2 IGF1R CREB3L2 CDK4
5
Show member pathways
12.47 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 12.1 TP53 MDM2 CREB3L2 CDK4
10
Show member pathways
11.9 TP53 MDM2 IGF1R CREB3L2 CDK4
11 11.69 TP53 MDM2 CDK4
12 11.62 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 11.44 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 9.7 TP53 NR2F2 MDM2 KMT2A HMGA2 HMGA1
2 senescence-associated heterochromatin focus GO:0035985 8.62 HMGA2 HMGA1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 TP53 KMT2A HMGA2 HMGA1 FOXC1 ETV6
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.01 TP53 NR2F2 MDM2 HMGA2 FOXC1 ETV6
3 response to drug GO:0042493 9.88 TP53 MDM2 COL1A1 CDK4
4 negative regulation of transcription, DNA-templated GO:0045892 9.88 TP53 PDGFB NR2F2 MDM2 HMGA2 HMGA1
5 heart development GO:0007507 9.86 TP53 PDGFB MDM2 FOXC1
6 regulation of transcription, DNA-templated GO:0006355 9.81 TP53 NR2F2 KMT2A HMGA2 HMGA1 FOXC1
7 positive regulation of gene expression GO:0010628 9.73 TP53 PDGFB MDM2 HMGA2 FOXC1 CREB3L2
8 blood vessel development GO:0001568 9.67 MDM2 FOXC1 COL1A1
9 protein-containing complex assembly GO:0065003 9.67 TP53 MDM2 KMT2A HMGA1
10 base-excision repair GO:0006284 9.65 TP53 HMGA2 HMGA1
11 cardiac septum morphogenesis GO:0060411 9.58 TP53 MDM2
12 lymph vessel development GO:0001945 9.57 NR2F2 FOXC1
13 mesenchymal cell differentiation GO:0048762 9.55 HMGA2 FOXC1
14 cellular response to UV-C GO:0071494 9.52 TP53 MDM2
15 cellular response to actinomycin D GO:0072717 9.46 TP53 MDM2
16 senescence-associated heterochromatin focus assembly GO:0035986 9.43 HMGA2 HMGA1
17 oncogene-induced cell senescence GO:0090402 9.32 HMGA2 HMGA1
18 positive regulation of transcription, DNA-templated GO:0045893 9.28 TP53 PDGFB NR2F2 KMT2A HMGA2 HMGA1
19 response to hyperoxia GO:0055093 9.13 TP53 COL1A1 CDK4

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.13 TP53 NR2F2 KMT2A HMGA2 HMGA1 FOXC1
2 DNA-binding transcription factor activity GO:0003700 9.88 TP53 NR2F2 KMT2A FOXC1 ETV6 CREB3L2
3 zinc ion binding GO:0008270 9.85 TRIM62 TP53 SHANK3 NR2F2 MDM2 KMT2A
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.84 TP53 NR2F2 FOXC1 ETV6
5 identical protein binding GO:0042802 9.8 TP53 PDGFB MDM2 KMT2A IGF1R EWSR1
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.72 TP53 HMGA2 FOXC1 ETV6 CREB3L2
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 TP53 NR2F2 KMT2A HMGA1 FOXC1 ETV6
8 DNA binding, bending GO:0008301 9.51 HMGA2 FOXC1
9 cAMP response element binding GO:0035497 9.49 HMGA2 CREB3L2
10 platelet-derived growth factor binding GO:0048407 9.48 PDGFB COL1A1
11 peroxisome proliferator activated receptor binding GO:0042975 9.46 MDM2 HMGA1
12 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 9.43 HMGA2 HMGA1
13 transcription regulatory region DNA binding GO:0044212 9.35 TP53 KMT2A HMGA2 FOXC1 CREB3L2
14 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
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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