R7
MCID: RNG023
MIFTS: 37

Ring Chromosome 7 (R7) malady

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Ring Chromosome 7

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Sources:
27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ring Chromosome 7:

Name: Ring Chromosome 7 48 54 68
Chromosome 7 Ring 48 27
 
Ring 7 48
R7 48

Classifications:



External Ids:

Orphanet54 ORPHA1449
UMLS via Orphanet69 C0795818, C2931622
ICD10 via Orphanet31 Q93.2
MESH via Orphanet40 C537813

Summaries for Ring Chromosome 7

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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 are GADD45 Pathway and Small cell lung cancer. Affiliated tissues include t cells, myeloid and skin, and related mouse phenotypes are digestive/alimentary and liver/biliary system.

Related Diseases for Ring Chromosome 7

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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)
idRelated DiseaseScoreTop Affiliating Genes
1ossifying fibromyxoid tumor10.1CDK4, TP53
2prostate rhabdomyosarcoma10.0CDK4, TP53
3occlusion precerebral artery10.0CDK4, TP53
4acute mountain sickness10.0MDM2, TP53
5functionless pituitary adenoma10.0MDM2, TP53
6scarlet fever10.0MDM2, TP53
7endometrial squamous cell carcinoma10.0MDM2, TP53
8coronary stenosis10.0MDM2, TP53
9neuronitis10.0
10cervical verrucous carcinoma10.0MDM2, TP53
11endodermal sinus tumor10.0MDM2, TP53
12spastic paraplegia 110.0MDM2, TP53
13juvenile astrocytoma10.0CDK4, TP53
14brain oligodendroglioma10.0MDM2, TP53
15toxic megacolon10.0MDM2, TP53
16intraorbital meningioma10.0MDM2, TP53
17childhood central nervous system primitive neuroectodermal neoplasm10.0MDM2, TP53
18vascular myelopathy10.0MDM2, TP53
19primary eye hypotony10.0CDK4, MDM2
20osteomyelitis10.0CDK4, MDM2
21amelogenesis imperfecta-gingival hyperplasia syndrome10.0CDK4, MDM2
22aortic aneurysm10.0CDK4, MDM2
23blood protein disease10.0CDK4, MDM2
24liposarcoma of bone10.0CDK4, MDM2
25apocrine sweat gland neoplasm10.0CDK4, MDM2
26bone leiomyosarcoma10.0CDK4, MDM2
27early myoclonic encephalopathy10.0MDM2, TP53
28localized hypertrophic neuropathy10.0CDK4, MDM2
29episodic ataxia10.0CDK4, MDM2
30intracranial liposarcoma10.0CDK4, MDM2
31mediastinum sarcoma10.0MDM2, TP53
32extraosseous osteosarcoma10.0CDK4, MDM2
33pinta disease10.0CDK4, MDM2
34hormone producing pituitary cancer10.0CDK4, MDM2
35mediastinum angiosarcoma10.0MDM2, TP53
36pleural lipoma10.0CDK4, MDM2
37cecum adenoma10.0MDM2, TP53
38childhood immature teratoma of ovary9.9CDK4, MDM2
39malignant pleural solitary fibrous tumor9.9CDK4, TP53
40conventional central osteosarcoma9.9CDK4, MDM2
41liposarcoma of the ovary9.9CDK4, MDM2
42nasopharyngeal carcinoma9.9MDM2, TP53
43metachronous osteosarcoma of the bone9.9CDK4, MDM2
44multifocal osteogenic sarcoma9.9CDK4, MDM2
45rhabdomyosarcoma 2, alveolar9.9CDK4, MDM2
46hypogonadotropic hypogonadism 20 with or without anosmia9.9CDK4, TP53
47ectodermal dysplasia 3, witkop type9.9CDK4, MDM2
48in situ pulmonary adenocarcinoma9.9MDM2, TP53
49lymphoma9.9
50hidradenoma9.9MDM2, 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

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MGI Mouse Phenotypes related to Ring Chromosome 7 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.3CDK4, MDM2, TP53
2MP:00053709.3CDK4, MDM2, TP53
3MP:00020069.2CDK4, MDM2, TP53
4MP:00011869.2CDK4, MDM2, TP53
5MP:00053678.5CDK4, MDM2, TP53

Drugs & Therapeutics for Ring Chromosome 7

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Randomized Controlled Trial of Shang Ring Male Children Circumcision: Comparison Between Flip and No Flip TechniqueCompletedNCT02481492

Search NIH Clinical Center for Ring Chromosome 7

Genetic Tests for Ring Chromosome 7

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Genetic tests related to Ring Chromosome 7:

id Genetic test Affiliating Genes
1 Chromosome 7 Ring Syndrome27

Anatomical Context for Ring Chromosome 7

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MalaCards organs/tissues related to Ring Chromosome 7:

36
T cells, Myeloid, Skin, Heart

Publications for Ring Chromosome 7

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Articles related to Ring Chromosome 7:

(show all 31)
idTitleAuthorsYear
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

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Expression for genes affiliated with Ring Chromosome 7

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

Pathways for genes affiliated with Ring Chromosome 7

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

(show all 43)
idSuper pathwaysScoreTop Affiliating Genes
19.3CDK4, TP53
29.3CDK4, TP53
39.3CDK4, TP53
49.3CDK4, TP53
59.1MDM2, TP53
69.1MDM2, TP53
7
Show member pathways
9.1MDM2, TP53
8
Show member pathways
9.1MDM2, TP53
99.1MDM2, TP53
109.1MDM2, TP53
11
Show member pathways
9.1MDM2, TP53
12
Show member pathways
9.1MDM2, TP53
139.1MDM2, TP53
149.1MDM2, TP53
159.1MDM2, TP53
169.1MDM2, TP53
179.1MDM2, TP53
189.1MDM2, TP53
199.1MDM2, TP53
209.1MDM2, TP53
219.1MDM2, TP53
22
Show member pathways
9.1MDM2, TP53
23
Show member pathways
8.5CDK4, MDM2, TP53
24
Show member pathways
8.5CDK4, MDM2, TP53
258.5CDK4, MDM2, TP53
26
Show member pathways
8.5CDK4, MDM2, TP53
278.5CDK4, MDM2, TP53
288.5CDK4, MDM2, TP53
29
Show member pathways
8.5CDK4, MDM2, TP53
308.5CDK4, MDM2, TP53
31
Show member pathways
8.5CDK4, MDM2, TP53
328.5CDK4, MDM2, TP53
338.5CDK4, MDM2, TP53
34
Show member pathways
8.5CDK4, MDM2, TP53
358.5CDK4, MDM2, TP53
36
Show member pathways
8.5CDK4, MDM2, TP53
378.5CDK4, MDM2, TP53
388.5CDK4, MDM2, TP53
39
Show member pathways
8.5CDK4, MDM2, TP53
408.5CDK4, MDM2, TP53
41
Show member pathways
8.5CDK4, MDM2, TP53
42
Show member pathways
8.5CDK4, MDM2, TP53
43
Show member pathways
8.5CDK4, MDM2, TP53

GO Terms for genes affiliated with Ring Chromosome 7

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

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:00057309.2CDK4, MDM2, TP53
2protein complexGO:00432348.5CDK4, MDM2, TP53

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cellular response to actinomycin DGO:00727179.8MDM2, TP53
2cellular response to gamma radiationGO:00714809.8MDM2, TP53
3cellular response to hypoxiaGO:00714569.8MDM2, TP53
4DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.8MDM2, TP53
5positive regulation of protein export from nucleusGO:00468279.8MDM2, TP53
6protein complex assemblyGO:00064619.7MDM2, TP53
7regulation of signal transduction by p53 class mediatorGO:19017969.7MDM2, TP53
8negative regulation of cell cycle arrestGO:00711579.7CDK4, MDM2
9positive regulation of cell cycleGO:00457879.7CDK4, MDM2
10response to antibioticGO:00466779.7MDM2, TP53
11response to toxic substanceGO:00096369.0CDK4, MDM2

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

idNameGO IDScoreTop Affiliating Genes
1disordered domain specific bindingGO:00977189.7MDM2, TP53
2p53 bindingGO:00020399.7MDM2, TP53
3protein N-terminus bindingGO:00474859.1MDM2, TP53

Sources for Ring Chromosome 7

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet