MCID: RNG023
MIFTS: 32

Ring Chromosome 7 malady

Rare diseases, Fetal diseases, Neuronal diseases categories

Aliases & Classifications for Ring Chromosome 7

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Ring Chromosome 7:

Name: Ring Chromosome 7 45 51 65
Chromosome 7 Ring 45
 
Ring 7 45
R7 45


Classifications:



External Ids:

Orphanet51 1449
ICD10 via Orphanet28 Q93.2
MESH via Orphanet37 C537813
UMLS via Orphanet66 C0795818, C2931622

Summaries for Ring Chromosome 7

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MalaCards based summary: Ring Chromosome 7, also known as chromosome 7 ring, is related to myelodysplastic syndrome and holoprosencephaly. An important gene associated with Ring Chromosome 7 is CDK4 (Cyclin-Dependent Kinase 4), and among its related pathways are Spinal Cord Injury and Validated targets of C-MYC transcriptional activation. Affiliated tissues include t cells, skin and heart, 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 82)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic syndrome10.3
2holoprosencephaly10.3
3melanoma10.3
4neuronitis10.3
5silver-russell syndrome10.1
6hematopoietic stem cell transplantation10.1
7eosinophilia10.1
8glioblastoma10.1
9hepatosplenic t-cell lymphoma10.1
10kidney hemangiopericytoma10.1CDK4, TP53
11fibroma10.1CDK4, TP53
12malignant melanoma, somatic10.0CDK4, TP53
13grade iii astrocytoma10.0CDK4, TP53
14actinic lichen planus10.0MDM2, TP53
15gastric liposarcoma10.0MDM2, TP53
16nervous system disease10.0CDK4, TP53
17primary eye hypotony10.0MDM2, TP53
18angioedema10.0MDM2, TP53
19acantholytic variant squamous cell breast carcinoma10.0MDM2, TP53
20bronchogenic lung adenocarcinoma10.0MDM2, TP53
21biliary tract intraductal papillary mucinous neoplasm10.0MDM2, TP53
22nemaline myopathy10.0MDM2, TP53
23childhood brain stem glioma10.0MDM2, TP53
24anterior spinal artery syndrome10.0MDM2, TP53
25adenocarcinoma in situ10.0CDK4, MDM2
26antenatal multiminicore disease with arthrogryposis multiplex congenita9.9CDK4, MDM2
27esophageal lipoma9.9CDK4, MDM2
28cheek mucosa cancer9.9CDK4, MDM2
29soft tissue sarcoma childhood9.9MDM2, TP53
30bone remodeling disease9.9CDK4, MDM2
31type c thymoma9.9CDK4, MDM2
32lipodermatosclerosis9.9CDK4, MDM2
33gliosarcoma9.9MDM2, TP53
34metabolic syndrome x9.9CDK4, MDM2
35extrahepatic bile duct lipoma9.9CDK4, MDM2
36kidney lipoma9.9CDK4, MDM2
37lumbosacral lipoma9.9CDK4, MDM2
38acute frontal sinusitis9.9CDK4, MDM2
39corpus callosum oligodendroglioma9.9MDM2, TP53
40atypical polypoid adenomyoma9.9CDK4, MDM2
41keratoacanthoma9.9CDK4, MDM2
42angiomyolipoma9.9CDK4, MDM2
43malignant gastric germ cell tumor9.9CDK4, MDM2
44peripheral primitive neuroectodermal tumor9.9CDK4, MDM2
45anaplastic plasmacytoma9.9CDK4, MDM2
46auricular cancer9.9MDM2, TP53
47lacrimal gland mucoepidermoid carcinoma9.9CDK4, MDM2
48rhabdomyosarcoma 2, alveolar9.9CDK4, MDM2
49catshl syndrome9.9CDK4, MDM2
50choroid plexus papilloma9.9MDM2, TP53

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



Diseases related to ring chromosome 7

Symptoms for Ring Chromosome 7

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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 TechniqueCompletedNCT02481492Phase 2, Phase 3

Search NIH Clinical Center for Ring Chromosome 7

Genetic Tests for Ring Chromosome 7

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Anatomical Context for Ring Chromosome 7

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MalaCards organs/tissues related to Ring Chromosome 7:

33
T cells, Skin, Heart

Animal Models for Ring Chromosome 7 or affiliated genes

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MGI Mouse Phenotypes related to Ring Chromosome 7:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6CDK4, MDM2, TP53
2MP:00053708.5CDK4, MDM2, TP53
3MP:00020068.5CDK4, MDM2, TP53
4MP:00053698.4CDK4, MDM2, TP53
5MP:00053678.2CDK4, MDM2, TP53

Publications for Ring Chromosome 7

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Articles related to Ring Chromosome 7:

(show all 29)
idTitleAuthorsYear
1
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
2
First trimester diagnosis of holoprosencephaly secondary to a ring chromosome 7. (23509645)
2013
3
Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7. (21303521)
2011
4
Ring chromosome 7 in an Indian woman. (18300171)
2008
5
Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: report of a new patient. (18924230)
2008
6
Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma. (16737917)
2006
7
Primary glioblastoma with EGFR amplification and a ring chromosome 7 in a young patient. (16866301)
2006
8
Hepatosplenic gammadelta T-cell lymphoma with ring chromosome 7, an isochromosome 7q equivalent clonal chromosomal aberration. (16941150)
2006
9
Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype. (15580634)
2005
10
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
11
Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient. (15523614)
2004
12
De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature. (12000362)
2002
13
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. (12431259)
2002
14
Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype. (10797441)
2000
15
Silver-Russell syndrome and ring chromosome 7. (10905891)
2000
16
Ring chromosome 7 and sacral agenesis. (10982483)
2000
17
Myelodysplastic syndrome with atypical eosinophilia in association with ring chromosome 7. A case report. (10565294)
1999
18
Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly. (8911601)
1996
19
Case of ring chromosome 7: the first report of neuropathological findings. (8362903)
1993
20
Melanoma associated with ring chromosome 7. (8428043)
1993
21
Cutaneous findings in ring chromosome 7 syndrome. (8428052)
1993
22
Ring chromosome 7, hyperpigmented skin lesions and malignant melanoma. (1415332)
1992
23
Severe anomalies associated with ring chromosome 7. (1746606)
1991
24
Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. (2395166)
1990
25
Ring chromosome 7: report of the fifth case. (2189730)
1990
26
Ring chromosome 7: report of a case. (3150243)
1988
27
Cytogenetics of ring chromosome 7. (6705244)
1984
28
A fourth case of ring chromosome 7. (7172483)
1982
29
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 pathways (with members indented)ScoreTop Affiliating Genes
19.3CDK4, TP53
29.3CDK4, TP53
39.3CDK4, TP53
49.3CDK4, TP53
59.3CDK4, TP53
69.1MDM2, TP53
79.1MDM2, TP53
8
Show member pathways
9.1MDM2, TP53
99.1MDM2, TP53
10
Show member pathways
9.1MDM2, TP53
119.1MDM2, TP53
12
Show member pathways
9.1MDM2, TP53
139.1MDM2, TP53
149.1MDM2, TP53
159.1MDM2, TP53
169.1MDM2, TP53
179.1MDM2, TP53
18
Apoptosis (WikiPathways)
Show member pathways
9.1MDM2, TP53
19
Show member pathways
9.1MDM2, TP53
209.1MDM2, TP53
219.1MDM2, TP53
22
Show member pathways
8.5CDK4, MDM2, TP53
23
Show member pathways
8.5CDK4, MDM2, TP53
248.5CDK4, MDM2, TP53
25
Show member pathways
8.5CDK4, MDM2, TP53
26
Show member pathways
8.5CDK4, MDM2, TP53
278.5CDK4, MDM2, TP53
288.5CDK4, MDM2, TP53
298.5CDK4, MDM2, TP53
308.5CDK4, MDM2, TP53
318.5CDK4, MDM2, TP53
328.5CDK4, MDM2, TP53
33
Show member pathways
8.5CDK4, MDM2, TP53
34
Show member pathways
8.5CDK4, MDM2, TP53
358.5CDK4, MDM2, TP53
36
Show member pathways
8.5CDK4, MDM2, TP53
37
Show member pathways
8.5CDK4, MDM2, TP53
38
Show member pathways
8.5CDK4, MDM2, TP53
398.5CDK4, MDM2, TP53
408.5CDK4, MDM2, TP53
418.5CDK4, MDM2, TP53
428.5CDK4, MDM2, TP53
438.5CDK4, 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
1nuclear bodyGO:00166049.6MDM2, TP53
2nucleolusGO:00057308.5CDK4, MDM2, TP53

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell cycle arrestGO:00711579.4CDK4, MDM2
2DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.4MDM2, TP53
3regulation of cell cycleGO:00517269.3CDK4, TP53
4response to antibioticGO:00466779.1MDM2, TP53
5protein complex assemblyGO:00064619.0MDM2, TP53
6cellular response to hypoxiaGO:00714568.8MDM2, TP53

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

idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:00020399.1MDM2, TP53

Sources for Ring Chromosome 7

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet