MCID: RNG023
MIFTS: 37

Ring Chromosome 7 malady

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Ring Chromosome 7

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Sources:
46NIH Rare Diseases, 52Orphanet, 66UMLS, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ring Chromosome 7:

Name: Ring Chromosome 7 46 52 66
Chromosome 7 Ring 46 25
 
Ring 7 46
R7 46

Classifications:



External Ids:

Orphanet52 ORPHA1449
ICD10 via Orphanet29 Q93.2
MESH via Orphanet38 C537813
UMLS via Orphanet67 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 neuronitis and adenofibroma. An important gene associated with Ring Chromosome 7 is CDK4 (Cyclin Dependent Kinase 4), and among its related pathways are Validated targets of C-MYC transcriptional activation and GADD45 Pathway. Affiliated tissues include t cells, skin and heart, and related mouse phenotypes are liver/biliary system and pigmentation.

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 91)
idRelated DiseaseScoreTop Affiliating Genes
1neuronitis10.1
2adenofibroma10.1CDK4, TP53
3dubin-johnson syndrome10.0CDK4, TP53
4lymphoma10.0
5brown-vialetto-van laere syndrome10.0CDK4, TP53
6pasli disease10.0MDM2, TP53
7median neuropathy10.0MDM2, TP53
8ampulla of vater squamous cell carcinoma10.0MDM2, TP53
9multiple carboxylase deficiency10.0MDM2, TP53
10prostate calculus10.0MDM2, TP53
11kidney sarcoma10.0MDM2, TP53
12vaginal yolk sac tumor9.9MDM2, TP53
13bile duct disease9.9MDM2, TP53
14bladder verrucous squamous cell carcinoma9.9MDM2, TP53
15stampe sorensen syndrome9.9MDM2, TP53
16myelodysplastic syndrome9.9
17holoprosencephaly9.9
18melanoma9.9
19spinal cord glioma9.9MDM2, TP53
20early myoclonic encephalopathy9.9MDM2, TP53
21hypoglossal nerve neoplasm9.9MDM2, TP53
22conversion disorder9.9MDM2, TP53
23ciliary body spindle cell melanoma9.9CDK4, TP53
24epidural spinal canal angiolipoma9.9CDK4, MDM2
25osteogenesis imperfecta9.9CDK4, MDM2
26central nervous system rhabdomyosarcoma9.9MDM2, TP53
27familial long qt syndrome9.9CDK4, MDM2
28skin lipoma9.9CDK4, MDM2
29grade iii astrocytoma9.9MDM2, TP53
30conjunctivitis9.9CDK4, MDM2
31conventional central osteosarcoma9.9CDK4, MDM2
32pediatric osteosarcoma9.9CDK4, MDM2
33localized chondrosarcoma9.9CDK4, MDM2
34lipoic acid synthetase deficiency9.9CDK4, MDM2
35mantle cell lymphoma9.9MDM2, TP53
36spindle cell liposarcoma9.9CDK4, MDM2
37pleuropulmonary blastoma type 29.9CDK4, MDM2
38fibrosarcoma9.9CDK4, MDM2
39kidney lipoma9.8CDK4, MDM2
40breast capillary hemangioma9.8CDK4, MDM2
41cholelithiasis9.8CDK4, MDM2
42mixed extragonadal germ cell cancer9.8MDM2, TP53
43vulvar liposarcoma9.8CDK4, MDM2
44lumbosacral lipoma9.8CDK4, MDM2
45toxascariasis9.8CDK4, MDM2
46atrial standstill9.8MDM2, TP53
47bone osteosarcoma9.8CDK4, MDM2
48nasopharyngeal carcinoma9.8MDM2, TP53
49cellular myxoid liposarcoma9.8CDK4, MDM2
50esophagus lymphoma9.8MDM2, 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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Genetic tests related to Ring Chromosome 7:

id Genetic test Affiliating Genes
1 Chromosome 7 Ring Syndrome25

Anatomical Context for Ring Chromosome 7

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MalaCards organs/tissues related to Ring Chromosome 7:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8CDK4, MDM2, TP53
2MP:00011868.7CDK4, MDM2, TP53
3MP:00053698.6CDK4, MDM2, TP53
4MP:00020068.5CDK4, MDM2, TP53
5MP:00053678.5CDK4, MDM2, TP53
6MP:00053818.4CDK4, MDM2, TP53

Publications for Ring Chromosome 7

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Articles related to Ring Chromosome 7:

(show all 30)
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
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7. (24677512)
2014
3
First trimester diagnosis of holoprosencephaly secondary to a ring chromosome 7. (23509645)
2013
4
Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7. (21303521)
2011
5
Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: report of a new patient. (18924230)
2008
6
Ring chromosome 7 in an Indian woman. (18300171)
2008
7
Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma. (16737917)
2006
8
Primary glioblastoma with EGFR amplification and a ring chromosome 7 in a young patient. (16866301)
2006
9
Hepatosplenic gammadelta T-cell lymphoma with ring chromosome 7, an isochromosome 7q equivalent clonal chromosomal aberration. (16941150)
2006
10
Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype. (15580634)
2005
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
Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient. (15523614)
2004
13
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. (12431259)
2002
14
De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature. (12000362)
2002
15
Silver-Russell syndrome and ring chromosome 7. (10905891)
2000
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
Myelodysplastic syndrome with atypical eosinophilia in association with ring chromosome 7. A case report. (10565294)
1999
19
Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly. (8911601)
1996
20
Case of ring chromosome 7: the first report of neuropathological findings. (8362903)
1993
21
Melanoma associated with ring chromosome 7. (8428043)
1993
22
Cutaneous findings in ring chromosome 7 syndrome. (8428052)
1993
23
Ring chromosome 7, hyperpigmented skin lesions and malignant melanoma. (1415332)
1992
24
Severe anomalies associated with ring chromosome 7. (1746606)
1991
25
Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. (2395166)
1990
26
Ring chromosome 7: report of the fifth case. (2189730)
1990
27
Ring chromosome 7: report of a case. (3150243)
1988
28
Cytogenetics of ring chromosome 7. (6705244)
1984
29
A fourth case of ring chromosome 7. (7172483)
1982
30
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 45)
idSuper pathwaysScoreTop Affiliating Genes
19.3CDK4, TP53
29.3CDK4, TP53
39.3CDK4, TP53
49.3CDK4, TP53
59.3CDK4, TP53
6
Show member pathways
9.1MDM2, TP53
7
Show member pathways
9.1MDM2, TP53
89.1MDM2, TP53
99.1MDM2, TP53
10
Show member pathways
9.1MDM2, TP53
119.1MDM2, TP53
129.1MDM2, TP53
139.1MDM2, TP53
149.1MDM2, TP53
15
Show member pathways
9.1MDM2, 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
27
Show member pathways
8.5CDK4, MDM2, TP53
288.5CDK4, MDM2, TP53
29
Show member pathways
8.5CDK4, MDM2, TP53
30
Show member pathways
8.5CDK4, MDM2, TP53
318.5CDK4, MDM2, TP53
328.5CDK4, MDM2, TP53
338.5CDK4, MDM2, TP53
348.5CDK4, MDM2, TP53
35
Show member pathways
8.5CDK4, MDM2, TP53
36
Show member pathways
8.5CDK4, MDM2, TP53
378.5CDK4, MDM2, TP53
38
Show member pathways
8.5CDK4, MDM2, TP53
39
Show member pathways
8.5CDK4, MDM2, TP53
40
Show member pathways
8.5CDK4, MDM2, TP53
418.5CDK4, MDM2, TP53
428.5CDK4, MDM2, TP53
438.5CDK4, MDM2, TP53
448.5CDK4, MDM2, TP53
458.5CDK4, 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:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1protein sumoylationGO:00169259.6MDM2, TP53
2DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.6MDM2, TP53
3positive regulation of protein export from nucleusGO:00468279.5MDM2, TP53
4negative regulation of cell cycle arrestGO:00711579.5CDK4, MDM2
5positive regulation of cell cycleGO:00457879.5CDK4, MDM2
6response to antibioticGO:00466779.5MDM2, TP53
7protein complex assemblyGO:00064619.4MDM2, TP53
8regulation of signal transduction by p53 class mediatorGO:19017969.4MDM2, TP53
9regulation of gene expressionGO:00104689.0CDK4, MDM2
10response to toxic substanceGO:00096369.0CDK4, MDM2
11cellular 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet