R7
MCID: RNG023
MIFTS: 37

Ring Chromosome 7 (R7) malady

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Ring Chromosome 7

Aliases & Descriptions for Ring Chromosome 7:

Name: Ring Chromosome 7 50 56 69
Chromosome 7 Ring 50 29
Ring 7 50
R7 50

Classifications:



External Ids:

Orphanet 56 ORPHA1449
UMLS via Orphanet 70 C0795818 C2931622
ICD10 via Orphanet 34 Q93.2
MESH via Orphanet 43 C537813

Summaries for Ring Chromosome 7

MalaCards based summary : Ring Chromosome 7, also known as chromosome 7 ring, is related to ossifying fibromyxoid tumor and prostate rhabdomyosarcoma. An important gene associated with Ring Chromosome 7 is CDK4 (Cyclin Dependent Kinase 4), and among its related pathways/superpathways are Cellular Senescence and Glioma. Affiliated tissues include t cells, myeloid and skin, and related phenotypes are digestive/alimentary and liver/biliary system

Related Diseases for Ring Chromosome 7

Diseases in the Ring Chromosome Y 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

Diseases related to Ring Chromosome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
id Related Disease Score Top Affiliating Genes
1 ossifying fibromyxoid tumor 10.1 CDK4 TP53
2 prostate rhabdomyosarcoma 10.0 CDK4 TP53
3 occlusion precerebral artery 10.0 CDK4 TP53
4 acute mountain sickness 10.0 MDM2 TP53
5 functionless pituitary adenoma 10.0 MDM2 TP53
6 scarlet fever 10.0 MDM2 TP53
7 endometrial squamous cell carcinoma 10.0 MDM2 TP53
8 coronary stenosis 10.0 MDM2 TP53
9 neuronitis 10.0
10 cervical verrucous carcinoma 10.0 MDM2 TP53
11 endodermal sinus tumor 10.0 MDM2 TP53
12 spastic paraplegia 1 10.0 MDM2 TP53
13 juvenile astrocytoma 10.0 CDK4 TP53
14 brain oligodendroglioma 10.0 MDM2 TP53
15 toxic megacolon 10.0 MDM2 TP53
16 intraorbital meningioma 10.0 MDM2 TP53
17 childhood central nervous system primitive neuroectodermal neoplasm 10.0 MDM2 TP53
18 vascular myelopathy 10.0 MDM2 TP53
19 primary eye hypotony 10.0 CDK4 MDM2
20 osteomyelitis 10.0 CDK4 MDM2
21 amelogenesis imperfecta-gingival hyperplasia syndrome 10.0 CDK4 MDM2
22 aortic aneurysm 10.0 CDK4 MDM2
23 blood protein disease 10.0 CDK4 MDM2
24 liposarcoma of bone 10.0 CDK4 MDM2
25 apocrine sweat gland neoplasm 10.0 CDK4 MDM2
26 bone leiomyosarcoma 10.0 CDK4 MDM2
27 early myoclonic encephalopathy 10.0 MDM2 TP53
28 localized hypertrophic neuropathy 10.0 CDK4 MDM2
29 episodic ataxia 10.0 CDK4 MDM2
30 intracranial liposarcoma 10.0 CDK4 MDM2
31 mediastinum sarcoma 10.0 MDM2 TP53
32 extraosseous osteosarcoma 10.0 CDK4 MDM2
33 pinta disease 10.0 CDK4 MDM2
34 hormone producing pituitary cancer 10.0 CDK4 MDM2
35 mediastinum angiosarcoma 10.0 MDM2 TP53
36 pleural lipoma 10.0 CDK4 MDM2
37 cecum adenoma 10.0 MDM2 TP53
38 childhood immature teratoma of ovary 9.9 CDK4 MDM2
39 malignant pleural solitary fibrous tumor 9.9 CDK4 TP53
40 conventional central osteosarcoma 9.9 CDK4 MDM2
41 liposarcoma of the ovary 9.9 CDK4 MDM2
42 nasopharyngeal carcinoma 9.9 MDM2 TP53
43 metachronous osteosarcoma of the bone 9.9 CDK4 MDM2
44 multifocal osteogenic sarcoma 9.9 CDK4 MDM2
45 rhabdomyosarcoma 2, alveolar 9.9 CDK4 MDM2
46 hypogonadotropic hypogonadism 20 with or without anosmia 9.9 CDK4 TP53
47 ectodermal dysplasia 3, witkop type 9.9 CDK4 MDM2
48 in situ pulmonary adenocarcinoma 9.9 MDM2 TP53
49 lymphoma 9.9
50 hidradenoma 9.9 MDM2 TP53

Graphical network of the top 20 diseases related to Ring Chromosome 7:



Diseases related to Ring Chromosome 7

Symptoms & Phenotypes for Ring Chromosome 7

MGI Mouse Phenotypes related to Ring Chromosome 7:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.5 MDM2 TP53 CDK4
2 liver/biliary system MP:0005370 9.43 MDM2 TP53 CDK4
3 neoplasm MP:0002006 9.33 MDM2 TP53 CDK4
4 pigmentation MP:0001186 9.13 MDM2 TP53 CDK4
5 renal/urinary system MP:0005367 8.8 MDM2 TP53 CDK4

Drugs & Therapeutics for Ring Chromosome 7

Interventional clinical trials:


id Name Status NCT ID Phase
1 Randomized Controlled Trial of Shang Ring Male Children Circumcision: Comparison Between Flip and No Flip Technique Completed NCT02481492

Search NIH Clinical Center for Ring Chromosome 7

Genetic Tests for Ring Chromosome 7

Genetic tests related to Ring Chromosome 7:

id Genetic test Affiliating Genes
1 Chromosome 7 Ring Syndrome 29

Anatomical Context for Ring Chromosome 7

MalaCards organs/tissues related to Ring Chromosome 7:

39
T Cells, Myeloid, Skin, Heart

Publications for Ring Chromosome 7

Articles related to Ring Chromosome 7:

(show all 31)
id Title Authors Year
1
Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML). ( 27849184 )
2016
2
Donor cell-derived myelodysplastic syndrome with ring chromosome 7 after allogeneic hematopoietic stem cell transplant in 2 patients with lymphomas as primary disease. ( 25022600 )
2014
3
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7. ( 24677512 )
2014
4
First trimester diagnosis of holoprosencephaly secondary to a ring chromosome 7. ( 23509645 )
2013
5
Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7. ( 21303521 )
2011
6
Ring chromosome 7 in an Indian woman. ( 18300171 )
2008
7
Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: report of a new patient. ( 18924230 )
2008
8
Primary glioblastoma with EGFR amplification and a ring chromosome 7 in a young patient. ( 16866301 )
2006
9
Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma. ( 16737917 )
2006
10
Hepatosplenic gammadelta T-cell lymphoma with ring chromosome 7, an isochromosome 7q equivalent clonal chromosomal aberration. ( 16941150 )
2006
11
Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay. ( 16007665 )
2005
12
Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype. ( 15580634 )
2005
13
Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient. ( 15523614 )
2004
14
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. ( 12431259 )
2002
15
De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature. ( 12000362 )
2002
16
Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype. ( 10797441 )
2000
17
Ring chromosome 7 and sacral agenesis. ( 10982483 )
2000
18
Silver-Russell syndrome and ring chromosome 7. ( 10905891 )
2000
19
Myelodysplastic syndrome with atypical eosinophilia in association with ring chromosome 7. A case report. ( 10565294 )
1999
20
Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly. ( 8911601 )
1996
21
Case of ring chromosome 7: the first report of neuropathological findings. ( 8362903 )
1993
22
Melanoma associated with ring chromosome 7. ( 8428043 )
1993
23
Cutaneous findings in ring chromosome 7 syndrome. ( 8428052 )
1993
24
Ring chromosome 7, hyperpigmented skin lesions and malignant melanoma. ( 1415332 )
1992
25
Severe anomalies associated with ring chromosome 7. ( 1746606 )
1991
26
Ring chromosome 7: report of the fifth case. ( 2189730 )
1990
27
Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. ( 2395166 )
1990
28
Ring chromosome 7: report of a case. ( 3150243 )
1988
29
Cytogenetics of ring chromosome 7. ( 6705244 )
1984
30
A fourth case of ring chromosome 7. ( 7172483 )
1982
31
Ring chromosome 7 with variable phenotypic expression. ( 4145271 )
1973

Variations for Ring Chromosome 7

Expression for Ring Chromosome 7

Search GEO for disease gene expression data for Ring Chromosome 7.

Pathways for Ring Chromosome 7

Pathways related to Ring Chromosome 7 according to GeneCards Suite gene sharing:

(show all 43)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 CDK4 MDM2 TP53
2
Show member pathways
12.68 CDK4 MDM2 TP53
3 12.37 CDK4 MDM2 TP53
4
Show member pathways
12.37 CDK4 MDM2 TP53
5 12.29 CDK4 MDM2 TP53
6
Show member pathways
12.27 CDK4 MDM2 TP53
7 12.19 CDK4 MDM2 TP53
8
Show member pathways
12.08 CDK4 MDM2 TP53
9 12.06 CDK4 MDM2 TP53
10 11.99 CDK4 MDM2 TP53
11 11.95 MDM2 TP53
12
Show member pathways
11.94 CDK4 MDM2 TP53
13
Show member pathways
11.87 CDK4 MDM2 TP53
14 11.84 MDM2 TP53
15 11.82 CDK4 MDM2 TP53
16 11.8 MDM2 TP53
17 11.76 CDK4 TP53
18
Show member pathways
11.76 CDK4 MDM2 TP53
19 11.74 MDM2 TP53
20 11.73 MDM2 TP53
21 11.71 CDK4 MDM2 TP53
22 11.69 MDM2 TP53
23
Show member pathways
11.6 MDM2 TP53
24 11.59 CDK4 MDM2 TP53
25 11.58 CDK4 TP53
26 11.57 MDM2 TP53
27 11.56 CDK4 TP53
28 11.51 MDM2 TP53
29
Show member pathways
11.5 MDM2 TP53
30 11.44 CDK4 MDM2 TP53
31 11.42 MDM2 TP53
32 11.4 MDM2 TP53
33 11.36 MDM2 TP53
34 11.36 MDM2 TP53
35
Show member pathways
11.35 MDM2 TP53
36 11.3 CDK4 MDM2 TP53
37 11.12 CDK4 TP53
38 11.1 MDM2 TP53
39 10.99 CDK4 MDM2 TP53
40 10.91 MDM2 TP53
41
Show member pathways
10.9 MDM2 TP53
42 10.78 CDK4 MDM2 TP53
43 10.3 CDK4 MDM2 TP53

GO Terms for Ring Chromosome 7

Cellular components related to Ring Chromosome 7 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.13 CDK4 MDM2 TP53
2 protein complex GO:0043234 8.8 CDK4 MDM2 TP53

Biological processes related to Ring Chromosome 7 according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 regulation of signal transduction by p53 class mediator GO:1901796 9.49 MDM2 TP53
2 protein complex assembly GO:0006461 9.48 MDM2 TP53
3 cellular response to hypoxia GO:0071456 9.46 MDM2 TP53
4 response to toxic substance GO:0009636 9.43 CDK4 MDM2
5 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.4 MDM2 TP53
6 positive regulation of cell cycle GO:0045787 9.37 CDK4 MDM2
7 response to antibiotic GO:0046677 9.32 MDM2 TP53
8 cellular response to gamma radiation GO:0071480 9.26 MDM2 TP53
9 negative regulation of cell cycle arrest GO:0071157 9.16 CDK4 MDM2
10 positive regulation of protein export from nucleus GO:0046827 8.96 MDM2 TP53
11 cellular response to actinomycin D GO:0072717 8.62 MDM2 TP53

Molecular functions related to Ring Chromosome 7 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.16 MDM2 TP53
2 p53 binding GO:0002039 8.96 MDM2 TP53
3 disordered domain specific binding GO:0097718 8.62 MDM2 TP53

Sources for Ring Chromosome 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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