MCID: RNG023
MIFTS: 38

Ring Chromosome 7 malady

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Ring Chromosome 7

About this section
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
Rose Cluster 7 68
 
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

About this section
MalaCards based summary: Ring Chromosome 7, also known as chromosome 7 ring, is related to adenofibroma and neuronitis, and has symptoms including hepatomegaly 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, myeloid and skin, and related mouse phenotypes are digestive/alimentary and liver/biliary system.

Related Diseases for Ring Chromosome 7

About this section

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
1adenofibroma10.1CDK4, TP53
2neuronitis10.0
3dubin-johnson syndrome10.0CDK4, TP53
4brown-vialetto-van laere syndrome10.0CDK4, TP53
5pasli disease10.0MDM2, TP53
6median neuropathy10.0MDM2, TP53
7ampulla of vater squamous cell carcinoma9.9MDM2, TP53
8multiple carboxylase deficiency9.9MDM2, TP53
9prostate calculus9.9MDM2, TP53
10kidney sarcoma9.9MDM2, TP53
11vaginal yolk sac tumor9.9MDM2, TP53
12bile duct disease9.9MDM2, TP53
13bladder verrucous squamous cell carcinoma9.9MDM2, TP53
14stampe sorensen syndrome9.9MDM2, TP53
15lymphoma9.9
16spinal cord glioma9.9MDM2, TP53
17early myoclonic encephalopathy9.9MDM2, TP53
18hypoglossal nerve neoplasm9.9MDM2, TP53
19conversion disorder9.9MDM2, TP53
20ciliary body spindle cell melanoma9.9CDK4, TP53
21epidural spinal canal angiolipoma9.9CDK4, MDM2
22osteogenesis imperfecta9.9CDK4, MDM2
23central nervous system rhabdomyosarcoma9.9MDM2, TP53
24familial long qt syndrome9.9CDK4, MDM2
25skin lipoma9.9CDK4, MDM2
26grade iii astrocytoma9.9MDM2, TP53
27conjunctivitis9.9CDK4, MDM2
28conventional central osteosarcoma9.9CDK4, MDM2
29pediatric osteosarcoma9.9CDK4, MDM2
30localized chondrosarcoma9.9CDK4, MDM2
31lipoic acid synthetase deficiency9.9CDK4, MDM2
32mantle cell lymphoma9.9MDM2, TP53
33spindle cell liposarcoma9.8CDK4, MDM2
34pleuropulmonary blastoma type 29.8CDK4, MDM2
35fibrosarcoma9.8CDK4, MDM2
36kidney lipoma9.8CDK4, MDM2
37breast capillary hemangioma9.8CDK4, MDM2
38cholelithiasis9.8CDK4, MDM2
39mixed extragonadal germ cell cancer9.8MDM2, TP53
40vulvar liposarcoma9.8CDK4, MDM2
41lumbosacral lipoma9.8CDK4, MDM2
42toxascariasis9.8CDK4, MDM2
43myelodysplastic syndrome9.8
44holoprosencephaly9.8
45atrial standstill9.8MDM2, TP53
46bone osteosarcoma9.8CDK4, MDM2
47nasopharyngeal carcinoma9.8MDM2, TP53
48cellular myxoid liposarcoma9.8CDK4, MDM2
49esophagus lymphoma9.8MDM2, TP53
50small cell osteogenic sarcoma9.8CDK4, MDM2

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



Diseases related to ring chromosome 7

Symptoms & Phenotypes for Ring Chromosome 7

About this section

UMLS symptoms related to Ring Chromosome 7:


hepatomegaly

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:00053699.3CDK4, MDM2, TP53
4MP:00020069.2CDK4, MDM2, TP53
5MP:00011869.2CDK4, MDM2, TP53
6MP:00053678.5CDK4, MDM2, TP53

Drugs & Therapeutics for Ring Chromosome 7

About this section

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

About this section

Genetic tests related to Ring Chromosome 7:

id Genetic test Affiliating Genes
1 Chromosome 7 Ring Syndrome27

Anatomical Context for Ring Chromosome 7

About this section

MalaCards organs/tissues related to Ring Chromosome 7:

36
T cells, Myeloid, Skin, Heart

Publications for Ring Chromosome 7

About this section

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
Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: report of a new patient. (18924230)
2008
7
Ring chromosome 7 in an Indian woman. (18300171)
2008
8
Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma. (16737917)
2006
9
Primary glioblastoma with EGFR amplification and a ring chromosome 7 in a young patient. (16866301)
2006
10
Hepatosplenic gammadelta T-cell lymphoma with ring chromosome 7, an isochromosome 7q equivalent clonal chromosomal aberration. (16941150)
2006
11
Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype. (15580634)
2005
12
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
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
Silver-Russell syndrome and ring chromosome 7. (10905891)
2000
17
Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype. (10797441)
2000
18
Ring chromosome 7 and sacral agenesis. (10982483)
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 in a man with multiple congenital anomalies and mental retardation. (2395166)
1990
27
Ring chromosome 7: report of the fifth case. (2189730)
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

About this section

Expression for genes affiliated with Ring Chromosome 7

About this section
Search GEO for disease gene expression data for Ring Chromosome 7.

Pathways for genes affiliated with Ring Chromosome 7

About this section

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

(show all 42)
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
79.1MDM2, TP53
8
Show member pathways
9.1MDM2, TP53
99.1MDM2, TP53
10
Show member pathways
9.1MDM2, TP53
11
Show member pathways
9.1MDM2, 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
21
Show member pathways
9.1MDM2, 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
268.5CDK4, MDM2, TP53
27
Show member pathways
8.5CDK4, MDM2, TP53
28
Show member pathways
8.5CDK4, 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
348.5CDK4, 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
41
Show member pathways
8.5CDK4, MDM2, TP53
428.5CDK4, MDM2, TP53

GO Terms for genes affiliated with Ring Chromosome 7

About this section

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

idNameGO IDScoreTop Affiliating Genes
1nuclear bodyGO:00166049.8MDM2, 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
1cellular response to hypoxiaGO:00714569.8MDM2, TP53
2DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.8MDM2, TP53
3positive regulation of protein export from nucleusGO:00468279.8MDM2, TP53
4protein complex assemblyGO:00064619.8MDM2, TP53
5protein sumoylationGO:00169259.8MDM2, TP53
6negative regulation of cell cycle arrestGO:00711579.7CDK4, MDM2
7positive regulation of cell cycleGO:00457879.7CDK4, MDM2
8regulation of signal transduction by p53 class mediatorGO:19017969.7MDM2, TP53
9response to antibioticGO:00466779.7MDM2, TP53
10regulation of gene expressionGO:00104689.6CDK4, MDM2
11response to toxic substanceGO:00096369.0CDK4, MDM2

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

About this section
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